{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T20:13:03Z","timestamp":1791922383365,"version":"4.3.4"},"reference-count":512,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2020,4,10]],"date-time":"2020-04-10T00:00:00Z","timestamp":1586476800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["EY011996"],"award-info":[{"award-number":["EY011996"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["EY027860"],"award-info":[{"award-number":["EY027860"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["EY027305"],"award-info":[{"award-number":["EY027305"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["EY028561"],"award-info":[{"award-number":["EY028561"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["EY019943"],"award-info":[{"award-number":["EY019943"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["EY027894"],"award-info":[{"award-number":["EY027894"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012309","name":"Royal Golden Jubilee (RGJ) Ph.D. Programme","doi-asserted-by":"publisher","award":["0102\/2559"],"award-info":[{"award-number":["0102\/2559"]}],"id":[{"id":"10.13039\/501100012309","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Inherited retinal degeneration (RD) leads to the impairment or loss of vision in millions of individuals worldwide, most frequently due to the loss of photoreceptor (PR) cells. Animal models, particularly the laboratory mouse, have been used to understand the pathogenic mechanisms that underlie PR cell loss and to explore therapies that may prevent, delay, or reverse RD. Here, we reviewed entries in the Mouse Genome Informatics and PubMed databases to compile a comprehensive list of monogenic mouse models in which PR cell loss is demonstrated. The progression of PR cell loss with postnatal age was documented in mutant alleles of genes grouped by biological function. As anticipated, a wide range in the onset and rate of cell loss was observed among the reported models. The analysis underscored relationships between RD genes and ciliary function, transcription-coupled DNA damage repair, and cellular chloride homeostasis. Comparing the mouse gene list to human RD genes identified in the RetNet database revealed that mouse models are available for 40% of the known human diseases, suggesting opportunities for future research. This work may provide insight into the molecular players and pathways through which PR degenerative disease occurs and may be useful for planning translational studies.<\/jats:p>","DOI":"10.3390\/cells9040931","type":"journal-article","created":{"date-parts":[[2020,4,13]],"date-time":"2020-04-13T10:41:52Z","timestamp":1586774512000},"page":"931","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":92,"title":["Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss"],"prefix":"10.3390","volume":"9","author":[{"given":"Gayle B.","family":"Collin","sequence":"first","affiliation":[{"name":"The Jackson Laboratory, Bar Harbor, Maine, ME 04609, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Navdeep","family":"Gogna","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory, Bar Harbor, Maine, ME 04609, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo","family":"Chang","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory, Bar Harbor, Maine, ME 04609, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nattaya","family":"Damkham","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory, Bar Harbor, Maine, ME 04609, USA"},{"name":"Department of Immunology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand"},{"name":"Siriraj Center of Excellence for Stem Cell Research, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jai","family":"Pinkney","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory, Bar Harbor, Maine, ME 04609, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lillian F.","family":"Hyde","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory, Bar Harbor, Maine, ME 04609, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3998-9579","authenticated-orcid":false,"given":"Lisa","family":"Stone","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory, Bar Harbor, Maine, ME 04609, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8213-0869","authenticated-orcid":false,"given":"J\u00fcrgen K.","family":"Naggert","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory, Bar Harbor, Maine, ME 04609, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patsy M.","family":"Nishina","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory, Bar Harbor, Maine, ME 04609, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark P.","family":"Krebs","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory, Bar Harbor, Maine, ME 04609, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,4,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Cremers, F.P.M., Boon, C.J.F., Bujakowska, K., and Zeitz, C. (2018). Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype-Phenotype Correlations, and Inheritance Models. Genes (Basel), 9.","DOI":"10.3390\/genes9040215"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"2710","DOI":"10.1073\/pnas.1913179117","article-title":"Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases","volume":"117","author":"Hanany","year":"2020","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_3","unstructured":"(2019, December 08). RetNet\u2014Retinal Information Network. Available online: https:\/\/sph.uth.edu\/retnet\/home.htm."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"26280","DOI":"10.1073\/pnas.1902292116","article-title":"The primate model for understanding and restoring vision","volume":"116","author":"Picaud","year":"2019","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1007\/s00439-019-01999-6","article-title":"Natural models for retinitis pigmentosa: Progressive retinal atrophy in dog breeds","volume":"138","author":"Bunel","year":"2019","journal-title":"Hum. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1016\/B978-0-12-384878-9.00006-6","article-title":"Animal models of retinal disease","volume":"100","author":"Fletcher","year":"2011","journal-title":"Prog. Mol. Biol. Transl. Sci."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1242\/dmm.017913","article-title":"Biology and therapy of inherited retinal degenerative disease: Insights from mouse models","volume":"8","author":"Veleri","year":"2015","journal-title":"Dis. Model. Mech."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"110","DOI":"10.3389\/fcell.2018.00110","article-title":"Leveraging Zebrafish to Study Retinal Degenerations","volume":"6","author":"Angueyra","year":"2018","journal-title":"Front. Cell Dev. Biol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1007\/978-1-4939-8669-9_16","article-title":"Drosophila melanogaster: A Valuable Genetic Model Organism to Elucidate the Biology of Retinitis Pigmentosa","volume":"1834","author":"Lehmann","year":"2019","journal-title":"Methods Mol. Biol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1038\/338070a0","article-title":"Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)","volume":"338","author":"Travis","year":"1989","journal-title":"Nature"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1038\/343364a0","article-title":"A point mutation of the rhodopsin gene in one form of retinitis pigmentosa","volume":"343","author":"Dryja","year":"1990","journal-title":"Nature"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1038\/347677a0","article-title":"Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase","volume":"347","author":"Bowes","year":"1990","journal-title":"Nature"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"69","DOI":"10.4161\/org.26710","article-title":"The role of primary cilia in the development and disease of the retina","volume":"10","author":"Wheway","year":"2014","journal-title":"Organogenesis"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.preteyeres.2018.12.004","article-title":"Insights into photoreceptor ciliogenesis revealed by animal models","volume":"71","author":"Baehr","year":"2019","journal-title":"Prog. Retin. Eye Res."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1016\/S0042-6989(01)00146-8","article-title":"Retinal degeneration mutants in the mouse","volume":"42","author":"Chang","year":"2002","journal-title":"Vis. Res."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1017\/S0952523805225075","article-title":"Mouse models of ocular diseases","volume":"22","author":"Chang","year":"2005","journal-title":"Vis. NeuroSci."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"391384","DOI":"10.1155\/2011\/391384","article-title":"Mouse model resources for vision research","volume":"2011","author":"Won","year":"2011","journal-title":"J. Ophthalmol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1007\/978-1-4614-0631-0_50","article-title":"Translational vision research models program","volume":"723","author":"Won","year":"2012","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1007\/978-1-62703-080-9_2","article-title":"Mouse models for studies of retinal degeneration and diseases","volume":"935","author":"Chang","year":"2013","journal-title":"Methods Mol. Biol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1007\/978-1-4939-3661-8_21","article-title":"Mouse Models as Tools to Identify Genetic Pathways for Retinal Degeneration, as Exemplified by Leber\u2019s Congenital Amaurosis","volume":"1438","author":"Chang","year":"2016","journal-title":"Methods Mol. Biol."},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Krebs, M.P., Collin, G.B., Hicks, W.L., Yu, M., Charette, J.R., Shi, L.Y., Wang, J., Naggert, J.K., Peachey, N.S., and Nishina, P.M. (2017). Mouse models of human ocular disease for translational research. PLoS ONE, 12.","DOI":"10.1371\/journal.pone.0183837"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1547","DOI":"10.1152\/physrev.00013.2010","article-title":"Intrinsically photosensitive retinal ganglion cells","volume":"90","author":"Do","year":"2010","journal-title":"Physiol. Rev."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.preteyeres.2016.05.003","article-title":"Molecular basis for photoreceptor outer segment architecture","volume":"55","author":"Goldberg","year":"2016","journal-title":"Prog. Retin. Eye Res."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/2046-2530-1-22","article-title":"Photoreceptor sensory cilia and ciliopathies: Focus on CEP290, RPGR and their interacting proteins","volume":"1","author":"Rachel","year":"2012","journal-title":"Cilia"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1759","DOI":"10.1002\/cne.24153","article-title":"Anatomy and spatial organization of Muller glia in mouse retina","volume":"525","author":"Wang","year":"2017","journal-title":"J. Comp. Neurol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1002\/glia.23727","article-title":"Glia of the human retina","volume":"68","author":"Reichenbach","year":"2019","journal-title":"Glia"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1152\/physrev.00021.2004","article-title":"The retinal pigment epithelium in visual function","volume":"85","author":"Strauss","year":"2005","journal-title":"Physiol. Rev."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.preteyeres.2018.03.005","article-title":"Non-syndromic retinitis pigmentosa","volume":"66","author":"Verbakel","year":"2018","journal-title":"Prog. Retin. Eye Res."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1136\/bjophthalmol-2016-309975","article-title":"Leber congenital amaurosis\/early-onset severe retinal dystrophy: Clinical features, molecular genetics and therapeutic interventions","volume":"101","author":"Kumaran","year":"2017","journal-title":"Br. J. Ophthalmol."},{"key":"ref_30","first-page":"25","article-title":"The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity","volume":"4","author":"Parisi","year":"2019","journal-title":"Transl. Sci. Rare Dis."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1159\/000445491","article-title":"Bardet-Biedl Syndrome","volume":"7","author":"Suspitsin","year":"2016","journal-title":"Mol. Syndromol."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1016\/j.bbadis.2014.11.020","article-title":"Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities","volume":"1852","author":"Mathur","year":"2015","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1093\/bmb\/ldy005","article-title":"Retinal gene therapy","volume":"126","author":"Kumaran","year":"2018","journal-title":"Br. Med. Bull."},{"key":"ref_34","unstructured":"(2019, October 18). Mouse Genome Database (MGD) at the Mouse Genome Informatics website, The Jackson Laboratory, Bar Harbor, Maine. Available online: http:\/\/www.informatics.jax.org."},{"key":"ref_35","unstructured":"PubMed [Internet] (2019, October 15). Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information, Available online: https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1038\/35018098","article-title":"A one-hit model of cell death in inherited neuronal degenerations","volume":"406","author":"Clarke","year":"2000","journal-title":"Nature"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1007\/978-1-4939-3661-8_20","article-title":"Bright-Field Imaging and Optical Coherence Tomography of the Mouse Posterior Eye","volume":"1438","author":"Krebs","year":"2016","journal-title":"Methods Mol. Biol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1002\/cpmo.32","article-title":"Using Vascular Landmarks to Orient 3D Optical Coherence Tomography Images of the Mouse Eye","volume":"7","author":"Krebs","year":"2017","journal-title":"Curr. Protoc. Mouse Biol."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/j.molbrainres.2004.10.011","article-title":"Retinal degeneration in Aipl1-deficient mice: A new genetic model of Leber congenital amaurosis","volume":"132","author":"Dyer","year":"2004","journal-title":"Brain Res. Mol. Brain Res."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"13903","DOI":"10.1073\/pnas.0405160101","article-title":"AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase","volume":"101","author":"Liu","year":"2004","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1038\/nature19356","article-title":"High-throughput discovery of novel developmental phenotypes","volume":"537","author":"Dickinson","year":"2016","journal-title":"Nature"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"7142","DOI":"10.1074\/jbc.M115.710954","article-title":"Arf-like Protein 3 (ARL3) Regulates Protein Trafficking and Ciliogenesis in Mouse Photoreceptors","volume":"291","author":"Wu","year":"2016","journal-title":"J. Biol. Chem."},{"key":"ref_43","unstructured":"(2019, December 22). International Mouse Phenotyping Consortium: Home\u2014IMPC. Available online: https:\/\/www.mousephenotype.org\/."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"a028274","DOI":"10.1101\/cshperspect.a028274","article-title":"Photoreceptor Cilia and Retinal Ciliopathies","volume":"9","author":"Bujakowska","year":"2017","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1016\/j.cell.2012.10.038","article-title":"Three-dimensional architecture of the rod sensory cilium and its disruption in retinal neurodegeneration","volume":"151","author":"Gilliam","year":"2012","journal-title":"Cell"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1007\/BF00220009","article-title":"The sensory cilium of retinal rods is analogous to the transitional zone of motile cilia","volume":"161","author":"Rohlich","year":"1975","journal-title":"Cell Tiss. Res."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"243","DOI":"10.14348\/molcells.2017.0054","article-title":"The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate","volume":"40","author":"Goncalves","year":"2017","journal-title":"Mol. Cells"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"R75","DOI":"10.1093\/hmg\/ddx163","article-title":"Photoreceptor outer segment as a sink for membrane proteins: Hypothesis and implications in retinal ciliopathies","volume":"26","author":"Seo","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"674","DOI":"10.3390\/cells4040674","article-title":"Photoreceptor Sensory Cilium: Traversing the Ciliary Gate","volume":"4","author":"Khanna","year":"2015","journal-title":"Cells"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1038\/ng.891","article-title":"A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition","volume":"43","author":"Corbit","year":"2011","journal-title":"Nat. Genet."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1042\/BC20110034","article-title":"Intraflagellar transport proteins in ciliogenesis of photoreceptor cells","volume":"103","author":"Sedmak","year":"2011","journal-title":"Biol. Cell"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"1489","DOI":"10.1083\/jcb.201608081","article-title":"Photoreceptor discs form through peripherin-dependent suppression of ciliary ectosome release","volume":"216","author":"Salinas","year":"2017","journal-title":"J. Cell Biol."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1083\/jcb.58.3.650","article-title":"Kinetics of rod outer segment renewal in the developing mouse retina","volume":"58","author":"LaVail","year":"1973","journal-title":"J. Cell Biol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1083\/jcb.2.4.209","article-title":"Morphogenesis of the retinal rods; an electron microscope study","volume":"2","year":"1956","journal-title":"J. Biophys. Biochem. Cytol."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"1982","DOI":"10.1002\/dvdy.21554","article-title":"Intraflagellar transport and the sensory outer segment of vertebrate photoreceptors","volume":"237","author":"Insinna","year":"2008","journal-title":"Dev. Dyn."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1083\/jcb.144.3.385","article-title":"Intraflagellar transport: The eyes have it","volume":"144","author":"Rosenbaum","year":"1999","journal-title":"J. Cell Biol."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.cell.2007.06.030","article-title":"SARA-regulated vesicular targeting underlies formation of the light-sensing organelle in mammalian rods","volume":"130","author":"Chuang","year":"2007","journal-title":"Cell"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/s13630-015-0013-1","article-title":"Ultrastructural visualization of trans-ciliary rhodopsin cargoes in mammalian rods","volume":"4","author":"Chuang","year":"2015","journal-title":"Cilia"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1002\/cne.901900307","article-title":"Disc morphogenesis in vertebrate photoreceptors","volume":"190","author":"Steinberg","year":"1980","journal-title":"J. Comp. Neurol."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1083\/jcb.201508093","article-title":"Discs of mammalian rod photoreceptors form through the membrane evagination mechanism","volume":"211","author":"Ding","year":"2015","journal-title":"J. Cell Biol."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"15922","DOI":"10.1073\/pnas.1509285113","article-title":"Rod disc renewal occurs by evagination of the ciliary plasma membrane that makes cadherin-based contacts with the inner segment","volume":"112","author":"Burgoyne","year":"2015","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1083\/jcb.33.1.61","article-title":"The renewal of photoreceptor cell outer segments","volume":"33","author":"Young","year":"1967","journal-title":"J. Cell Biol."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"1208","DOI":"10.1016\/j.cell.2010.05.015","article-title":"The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia","volume":"141","author":"Jin","year":"2010","journal-title":"Cell"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/j.devcel.2014.09.004","article-title":"The intraflagellar transport protein IFT27 promotes BBSome exit from cilia through the GTPase ARL6\/BBS3","volume":"31","author":"Liew","year":"2014","journal-title":"Dev. Cell"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1007\/978-3-319-17121-0_83","article-title":"The Role of Intraflagellar Transport in the Photoreceptor Sensory Cilium","volume":"854","author":"Taub","year":"2016","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1083\/jcb.200107108","article-title":"The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance","volume":"157","author":"Pazour","year":"2002","journal-title":"J. Cell Biol."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.ceb.2017.03.012","article-title":"Gates for soluble and membrane proteins, and two trafficking systems (IFT and LIFT), establish a dynamic ciliary signaling compartment","volume":"47","author":"Jensen","year":"2017","journal-title":"Curr. Opin. Cell Biol."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"8653","DOI":"10.1167\/iovs.14-16066","article-title":"Membrane protein transport in photoreceptors: The function of PDEdelta: The Proctor lecture","volume":"55","author":"Baehr","year":"2014","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_69","doi-asserted-by":"crossref","unstructured":"Hsu, Y., Garrison, J.E., Kim, G., Schmitz, A.R., Searby, C.C., Zhang, Q., Datta, P., Nishimura, D.Y., Seo, S., and Sheffield, V.C. (2017). BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment. PLoS Genet., 13.","DOI":"10.1371\/journal.pgen.1007057"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"12765","DOI":"10.1074\/jbc.M115.638437","article-title":"Heterotrimeric kinesin-2 (KIF3) mediates transition zone and axoneme formation of mouse photoreceptors","volume":"290","author":"Jiang","year":"2015","journal-title":"J. Biol. Chem."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"3400","DOI":"10.1096\/fj.201600511R","article-title":"Ciliopathy-associated IQCB1\/NPHP5 protein is required for mouse photoreceptor outer segment formation","volume":"30","author":"Ronquillo","year":"2016","journal-title":"FASEB J."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"21442","DOI":"10.1074\/jbc.RA117.000141","article-title":"The guanine nucleotide exchange factor Arf-like protein 13b is essential for assembly of the mouse photoreceptor transition zone and outer segment","volume":"292","author":"Wu","year":"2017","journal-title":"J. Biol. Chem."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1016\/j.ajhg.2008.06.023","article-title":"Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome","volume":"83","author":"Cantagrel","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1016\/j.devcel.2007.03.004","article-title":"The graded response to Sonic Hedgehog depends on cilia architecture","volume":"12","author":"Caspary","year":"2007","journal-title":"Dev. Cell"},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1016\/j.exer.2017.10.015","article-title":"Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice","volume":"166","author":"Eblimit","year":"2018","journal-title":"Exp. Eye Res."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1126\/science.1124534","article-title":"The primary cilium as the cell\u2019s antenna: Signaling at a sensory organelle","volume":"313","author":"Singla","year":"2006","journal-title":"Science"},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"a028134","DOI":"10.1101\/cshperspect.a028134","article-title":"Open Sesame: How Transition Fibers and the Transition Zone Control Ciliary Composition","volume":"9","author":"Reiter","year":"2017","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1038\/ncb3599","article-title":"Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome","volume":"19","author":"Shi","year":"2017","journal-title":"Nat. Cell Biol."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1083\/jcb.201012116","article-title":"MKS and NPHP modules cooperate to establish basal body\/transition zone membrane associations and ciliary gate function during ciliogenesis","volume":"192","author":"Williams","year":"2011","journal-title":"J. Cell Biol."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"3617","DOI":"10.1091\/mbc.e10-03-0246","article-title":"Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731","volume":"21","author":"Knorz","year":"2010","journal-title":"Mol. Biol. Cell"},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/ng874","article-title":"Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome","volume":"31","author":"Hearn","year":"2002","journal-title":"Nat. Genet."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1038\/ng867","article-title":"Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome","volume":"31","author":"Collin","year":"2002","journal-title":"Nat. Genet."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"2323","DOI":"10.1093\/hmg\/ddi235","article-title":"Alms1-disrupted mice recapitulate human Alstrom syndrome","volume":"14","author":"Collin","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"107721","DOI":"10.1016\/j.exer.2019.107721","article-title":"In vivo phenotypic and molecular characterization of retinal degeneration in mouse models of three ciliopathies","volume":"186","author":"Brun","year":"2019","journal-title":"Exp. Eye Res."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"1399","DOI":"10.1016\/j.celrep.2016.09.089","article-title":"Loss of MACF1 Abolishes Ciliogenesis and Disrupts Apicobasal Polarity Establishment in the Retina","volume":"17","author":"Gumerson","year":"2016","journal-title":"Cell Rep."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"3620","DOI":"10.1093\/hmg\/ddr282","article-title":"Ccdc66 null mutation causes retinal degeneration and dysfunction","volume":"20","author":"Gerding","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1016\/j.neuron.2014.06.029","article-title":"SDCCAG8 regulates pericentriolar material recruitment and neuronal migration in the developing cortex","volume":"83","author":"Insolera","year":"2014","journal-title":"Neuron"},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"4207","DOI":"10.1038\/ncomms5207","article-title":"Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis","volume":"5","author":"Veleri","year":"2014","journal-title":"Nat. Commun."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"1361","DOI":"10.1016\/j.ajhg.2008.05.004","article-title":"Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle","volume":"82","author":"Tallila","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1016\/j.ajhg.2008.10.002","article-title":"CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290","volume":"83","author":"Gorden","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1111\/cge.13453","article-title":"Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy","volume":"95","author":"Mejecase","year":"2019","journal-title":"Clin. Genet."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"1440","DOI":"10.1096\/fj.201801149R","article-title":"Mks6 mutations reveal tissue- and cell type-specific roles for the cilia transition zone","volume":"33","author":"Lewis","year":"2019","journal-title":"FASEB J."},{"key":"ref_93","first-page":"1157","article-title":"Characterization of the ternary Usher syndrome SANS\/ush2a\/whirlin protein complex","volume":"26","author":"Sorusch","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"4413","DOI":"10.1073\/pnas.0610950104","article-title":"Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells","volume":"104","author":"Liu","year":"2007","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_95","doi-asserted-by":"crossref","unstructured":"Yang, J., Liu, X., Zhao, Y., Adamian, M., Pawlyk, B., Sun, X., McMillan, D.R., Liberman, M.C., and Li, T. (2010). Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss. PLoS Genet., 6.","DOI":"10.1371\/journal.pgen.1000955"},{"key":"ref_96","first-page":"4659","article-title":"Membrane curvature generation by a C-terminal amphipathic helix in peripherin-2\/rds, a tetraspanin required for photoreceptor sensory cilium morphogenesis","volume":"126","author":"Khattree","year":"2013","journal-title":"J. Cell Sci."},{"key":"ref_97","first-page":"50","article-title":"Peripherin. A rim-specific membrane protein of rod outer segment discs","volume":"28","author":"Molday","year":"1987","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1016\/j.cub.2013.04.019","article-title":"The cilium secretes bioactive ectosomes","volume":"23","author":"Wood","year":"2013","journal-title":"Curr. Biol."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1016\/j.tcb.2014.12.008","article-title":"Ciliary ectosomes: Transmissions from the cell\u2019s antenna","volume":"25","author":"Wood","year":"2015","journal-title":"Trends Cell Biol."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"6260","DOI":"10.1093\/hmg\/ddu345","article-title":"The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse","volume":"23","author":"Stuck","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"3500","DOI":"10.1093\/hmg\/ddw193","article-title":"The K153Del PRPH2 mutation differentially impacts photoreceptor structure and function","volume":"25","author":"Chakraborty","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1002\/cne.901940110","article-title":"Development and degeneration of retina in rds mutant mice: Light microscopy","volume":"194","author":"Sanyal","year":"1980","journal-title":"J. Comp. Neurol."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"1177","DOI":"10.1016\/0042-6989(86)90099-4","article-title":"Development and degeneration of retina in rds mutant mice: Effects of light on the rate of degeneration in albino and pigmented homozygous and heterozygous mutant and normal mice","volume":"26","author":"Sanyal","year":"1986","journal-title":"Vis. Res."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1093\/hmg\/11.9.1005","article-title":"Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin gene","volume":"11","author":"McNally","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"ref_105","doi-asserted-by":"crossref","unstructured":"Chakraborty, D., Conley, S.M., Al-Ubaidi, M.R., and Naash, M.I. (2014). Initiation of rod outer segment disc formation requires RDS. PLoS ONE, 9.","DOI":"10.1371\/journal.pone.0098939"},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"1604","DOI":"10.1126\/science.8202715","article-title":"Digenic retinitis pigmentosa due to mutations at the unlinked peripherin\/RDS and ROM1 loci","volume":"264","author":"Kajiwara","year":"1994","journal-title":"Science"},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1038\/75621","article-title":"Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis","volume":"25","author":"Clarke","year":"2000","journal-title":"Nat. Genet."},{"key":"ref_108","first-page":"378","article-title":"A monogenic dominant mutation in Rom1 generated by N-ethyl-N-nitrosourea mutagenesis causes retinal degeneration in mice","volume":"16","author":"Sato","year":"2010","journal-title":"Mol. Vis."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"5028","DOI":"10.1021\/acs.biochem.6b00489","article-title":"Progressive Rod-Cone Degeneration (PRCD) Protein Requires N-Terminal S-Acylation and Rhodopsin Binding for Photoreceptor Outer Segment Localization and Maintaining Intracellular Stability","volume":"55","author":"Spencer","year":"2016","journal-title":"Biochemistry"},{"key":"ref_110","first-page":"4078","article-title":"PRCD is Concentrated at the Base of Photoreceptor Outer Segments and is Involved in Outer Segment Disc Formation","volume":"28","author":"Allon","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1016\/j.ygeno.2006.07.007","article-title":"Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans","volume":"88","author":"Zangerl","year":"2006","journal-title":"Genomics"},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"13087","DOI":"10.1073\/pnas.1906421116","article-title":"PRCD is essential for high-fidelity photoreceptor disc formation","volume":"116","author":"Spencer","year":"2019","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/S0070-2153(08)00802-8","article-title":"Intraflagellar transport (IFT) role in ciliary assembly, resorption and signalling","volume":"85","author":"Pedersen","year":"2008","journal-title":"Curr. Top. Dev. Biol."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/j.ydbio.2008.10.020","article-title":"Defective ciliogenesis, embryonic lethality and severe impairment of the Sonic Hedgehog pathway caused by inactivation of the mouse complex A intraflagellar transport gene Ift122\/Wdr10, partially overlapping with the DNA repair gene Med1\/Mbd4","volume":"325","author":"Cortellino","year":"2009","journal-title":"Dev. Biol."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"2347","DOI":"10.1242\/dev.127.11.2347","article-title":"The Oak Ridge Polycystic Kidney (orpk) disease gene is required for left-right axis determination","volume":"127","author":"Murcia","year":"2000","journal-title":"Development"},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1016\/j.ydbio.2009.08.023","article-title":"Ttc21b is required to restrict sonic hedgehog activity in the developing mouse forebrain","volume":"335","author":"Stottmann","year":"2009","journal-title":"Dev. Biol."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.ydbio.2008.09.019","article-title":"Intraflagellar transport protein 172 is essential for primary cilia formation and plays a vital role in patterning the mammalian brain","volume":"325","author":"Gorivodsky","year":"2009","journal-title":"Dev. Biol."},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"1306","DOI":"10.1093\/hmg\/ddr013","article-title":"An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia","volume":"20","author":"Rix","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.ydbio.2011.09.001","article-title":"Mutations in Traf3ip1 reveal defects in ciliogenesis, embryonic development, and altered cell size regulation","volume":"360","author":"Berbari","year":"2011","journal-title":"Dev. Biol."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"a028175","DOI":"10.1101\/cshperspect.a028175","article-title":"Primary Cilia and Mammalian Hedgehog Signaling","volume":"9","author":"Bangs","year":"2017","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/S0091-679X(08)93017-X","article-title":"Analysis of hedgehog signaling in mouse intraflagellar transport mutants","volume":"93","author":"Ko","year":"2009","journal-title":"Methods Cell Biol."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"2012","DOI":"10.1093\/hmg\/ddy109","article-title":"Ift172 conditional knock-out mice exhibit rapid retinal degeneration and protein trafficking defects","volume":"27","author":"Gupta","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1091\/mbc.e10-09-0792","article-title":"IFT20 is required for opsin trafficking and photoreceptor outer segment development","volume":"22","author":"Keady","year":"2011","journal-title":"Mol. Biol. Cell"},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1038\/nchembio834","article-title":"Trafficking and signaling by fatty-acylated and prenylated proteins","volume":"2","author":"Resh","year":"2006","journal-title":"Nat. Chem. Biol."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1016\/j.visres.2012.07.016","article-title":"Arl3 and RP2 mediated assembly and traffic of membrane associated cilia proteins","volume":"75","author":"Schwarz","year":"2012","journal-title":"Vis. Res."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"4503","DOI":"10.1167\/iovs.13-12140","article-title":"Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration","volume":"54","author":"Li","year":"2013","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1096\/fj.14-257915","article-title":"Mistrafficking of prenylated proteins causes retinitis pigmentosa 2","volume":"29","author":"Zhang","year":"2015","journal-title":"FASEB J."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"2031","DOI":"10.1093\/hmg\/ddw077","article-title":"ARL3 regulates trafficking of prenylated phototransduction proteins to the rod outer segment","volume":"25","author":"Wright","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"1288","DOI":"10.2353\/ajpath.2006.050941","article-title":"ADP-ribosylation factor-like 3 is involved in kidney and photoreceptor development","volume":"168","author":"Schrick","year":"2006","journal-title":"Am. J. Pathol."},{"key":"ref_130","first-page":"4533","article-title":"Prenylated retinal ciliopathy protein RPGR interacts with PDE6delta and regulates ciliary localization of Joubert syndrome-associated protein INPP5E","volume":"25","author":"Rao","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1681\/ASN.2015080906","article-title":"The Joubert Syndrome Protein Inpp5e Controls Ciliogenesis by Regulating Phosphoinositides at the Apical Membrane","volume":"28","author":"Xu","year":"2017","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"12187","DOI":"10.1016\/S0021-9258(18)63839-6","article-title":"A soluble form of bovine rod photoreceptor phosphodiesterase has a novel 15-kDa subunit","volume":"264","author":"Gillespie","year":"1989","journal-title":"J. Biol. Chem."},{"key":"ref_133","doi-asserted-by":"crossref","unstructured":"Thompson, D.A., Khan, N.W., Othman, M.I., Chang, B., Jia, L., Grahek, G., Wu, Z., Hiriyanna, S., Nellissery, J., and Li, T. (2012). Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15. PLoS ONE, 7.","DOI":"10.1371\/journal.pone.0035865"},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"3649","DOI":"10.1073\/pnas.97.7.3649","article-title":"A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)","volume":"97","author":"Hong","year":"2000","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"8857","DOI":"10.1073\/pnas.0701681104","article-title":"Deletion of PrBP\/delta impedes transport of GRK1 and PDE6 catalytic subunits to photoreceptor outer segments","volume":"104","author":"Zhang","year":"2007","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"13897","DOI":"10.1073\/pnas.0404197101","article-title":"Leber congenital amaurosis linked to AIPL1: A mouse model reveals destabilization of cGMP phosphodiesterase","volume":"101","author":"Ramamurthy","year":"2004","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.cellsig.2017.09.014","article-title":"AIPL1: A specialized chaperone for the phototransduction effector","volume":"40","author":"Yadav","year":"2017","journal-title":"Cell Signal."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1136\/jmedgenet-2013-101785","article-title":"Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)","volume":"51","author":"Scheidecker","year":"2014","journal-title":"J. Med. Genet."},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1007\/s00439-006-0197-y","article-title":"Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity","volume":"120","author":"Eichers","year":"2006","journal-title":"Hum. Genet."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"8664","DOI":"10.1073\/pnas.0402354101","article-title":"Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly","volume":"101","author":"Mykytyn","year":"2004","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"67","DOI":"10.3389\/fnmol.2015.00067","article-title":"Protein and Signaling Networks in Vertebrate Photoreceptor Cells","volume":"8","author":"Koch","year":"2015","journal-title":"Front. Mol. Neurosci."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1017\/S0952523805225117","article-title":"Generation, characterization, and molecular cloning of the Noerg-1 mutation of rhodopsin in the mouse","volume":"22","author":"Pinto","year":"2005","journal-title":"Vis. Neurosci."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1167\/iovs.09-3585","article-title":"Severe retinal degeneration caused by a novel rhodopsin mutation","volume":"51","author":"Liu","year":"2010","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"10551","DOI":"10.1074\/jbc.M110.209759","article-title":"Probing mechanisms of photoreceptor degeneration in a new mouse model of the common form of autosomal dominant retinitis pigmentosa due to P23H opsin mutations","volume":"286","author":"Sakami","year":"2011","journal-title":"J. Biol. Chem."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1007\/s12035-014-8881-8","article-title":"Robust Endoplasmic Reticulum-Associated Degradation of Rhodopsin Precedes Retinal Degeneration","volume":"52","author":"Chiang","year":"2015","journal-title":"Mol. Neurobiol."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1007\/s12035-019-01723-5","article-title":"Calpain Activation Is the Major Cause of Cell Death in Photoreceptors Expressing a Rhodopsin Misfolding Mutation","volume":"57","author":"Comitato","year":"2020","journal-title":"Mol. Neurobiol."},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"2008","DOI":"10.1016\/j.febslet.2013.05.020","article-title":"The cell stress machinery and retinal degeneration","volume":"587","author":"Athanasiou","year":"2013","journal-title":"FEBS Lett."},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"4896","DOI":"10.1093\/hmg\/ddx370","article-title":"The role of the ER stress-response protein PERK in rhodopsin retinitis pigmentosa","volume":"26","author":"Athanasiou","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1172\/JCI66176","article-title":"Autosomal recessive retinitis pigmentosa E150K opsin mice exhibit photoreceptor disorganization","volume":"123","author":"Zhang","year":"2013","journal-title":"J. Clin. Investig."},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1093\/hmg\/ddt561","article-title":"P23H opsin knock-in mice reveal a novel step in retinal rod disc morphogenesis","volume":"23","author":"Sakami","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"29047","DOI":"10.1074\/jbc.M113.495184","article-title":"The severe autosomal dominant retinitis pigmentosa rhodopsin mutant Ter349Glu mislocalizes and induces rapid rod cell death","volume":"288","author":"Hollingsworth","year":"2013","journal-title":"J. Biol. Chem."},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/ng0297-216","article-title":"Retinopathy induced in mice by targeted disruption of the rhodopsin gene","volume":"15","author":"Humphries","year":"1997","journal-title":"Nat. Genet."},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1073\/pnas.96.2.736","article-title":"Morphological, physiological, and biochemical changes in rhodopsin knockout mice","volume":"96","author":"Lem","year":"1999","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_154","doi-asserted-by":"crossref","unstructured":"Faber, S., and Roepman, R. (2019). Balancing the Photoreceptor Proteome: Proteostasis Network Therapeutics for Inherited Retinal Disease. Genes, 10.","DOI":"10.3390\/genes10080557"},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"3657","DOI":"10.1007\/s00018-019-03090-9","article-title":"Mechanisms of neurodegeneration in a preclinical autosomal dominant retinitis pigmentosa knock-in model with a Rho(D190N) mutation","volume":"76","author":"Cui","year":"2019","journal-title":"Cell Mol. Life Sci."},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/B978-0-12-417197-8.00001-8","article-title":"Constitutively active rhodopsin and retinal disease","volume":"70","author":"Park","year":"2014","journal-title":"Adv. Pharmacol."},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"14521","DOI":"10.1074\/jbc.M110.112409","article-title":"Mutations of the opsin gene (Y102H and I307N) lead to light-induced degeneration of photoreceptors and constitutive activation of phototransduction in mice","volume":"285","author":"Budzynski","year":"2010","journal-title":"J. Biol. Chem."},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1016\/j.visres.2010.12.017","article-title":"A mouse M-opsin monochromat: Retinal cone photoreceptors have increased M-opsin expression when S-opsin is knocked out","volume":"51","author":"Daniele","year":"2011","journal-title":"Vis. Res."},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"6690","DOI":"10.1038\/s41598-017-06982-7","article-title":"Gene-based Therapy in a Mouse Model of Blue Cone Monochromacy","volume":"7","author":"Zhang","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_160","first-page":"489","article-title":"Differential effect of the rd mutation on rods and cones in the mouse retina","volume":"17","author":"LaVail","year":"1978","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"13913","DOI":"10.1073\/pnas.250478897","article-title":"Phototransduction in transgenic mice after targeted deletion of the rod transducin alpha -subunit","volume":"97","author":"Calvert","year":"2000","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1073\/pnas.1212677110","article-title":"Repair of the degenerate retina by photoreceptor transplantation","volume":"110","author":"Barber","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"137","DOI":"10.3109\/02713680903447900","article-title":"IRD1 and IRD2 mice, naturally occurring models of hereditary retinal dysfunction, show late-onset and progressive retinal degeneration","volume":"35","author":"Miyamoto","year":"2010","journal-title":"Curr. Eye Res."},{"key":"ref_164","doi-asserted-by":"crossref","unstructured":"Mejecase, C., Laurent-Coriat, C., Mayer, C., Poch, O., Mohand-Said, S., Prevot, C., Antonio, A., Boyard, F., Condroyer, C., and Michiels, C. (2016). Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy. PLoS ONE, 11.","DOI":"10.1371\/journal.pone.0168271"},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1136\/bjophthalmol-2015-306939","article-title":"A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration","volume":"100","author":"Carrigan","year":"2016","journal-title":"Br. J. Ophthalmol."},{"key":"ref_166","doi-asserted-by":"crossref","unstructured":"Zenteno, J.C., Garcia-Montano, L.A., Cruz-Aguilar, M., Ronquillo, J., Rodas-Serrano, A., Aguilar-Castul, L., Matsui, R., Vencedor-Meraz, C.I., Arce-Gonzalez, R., and Graue-Wiechers, F. (2020). Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing. Mol. Genet. Genomic Med., 8.","DOI":"10.1002\/mgg3.1044"},{"key":"ref_167","doi-asserted-by":"crossref","first-page":"17681","DOI":"10.1073\/pnas.0901382106","article-title":"Functional interchangeability of rod and cone transducin alpha-subunits","volume":"106","author":"Deng","year":"2009","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_168","unstructured":"Chang, B., Hawes, N.L., Hurd, R.E., Wang, J., Davisson, M.T., Nusinowitz, S., and Heckenlively, J.R. (2007, January 6\u201310). A New Mouse Model of Retinal Degeneration (rd17). Proceedings of ARVO Annual Meeting Abstract, Fort Lauderdale, FL, USA."},{"key":"ref_169","doi-asserted-by":"crossref","first-page":"3510","DOI":"10.1523\/JNEUROSCI.0338-08.2008","article-title":"Transducin gamma-subunit sets expression levels of alpha- and beta-subunits and is crucial for rod viability","volume":"28","author":"Lobanova","year":"2008","journal-title":"J. Neurosci."},{"key":"ref_170","doi-asserted-by":"crossref","first-page":"8067","DOI":"10.1523\/JNEUROSCI.0174-11.2011","article-title":"G-protein betagamma-complex is crucial for efficient signal amplification in vision","volume":"31","author":"Kolesnikov","year":"2011","journal-title":"J. Neurosci."},{"key":"ref_171","doi-asserted-by":"crossref","first-page":"9986","DOI":"10.1073\/pnas.1305521110","article-title":"Proteasome overload is a common stress factor in multiple forms of inherited retinal degeneration","volume":"110","author":"Lobanova","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_172","doi-asserted-by":"crossref","first-page":"3350","DOI":"10.1167\/iovs.13-11831","article-title":"A naturally occurring mouse model of achromatopsia: Characterization of the mutation in cone transducin and subsequent retinal phenotype","volume":"54","author":"Jobling","year":"2013","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_173","doi-asserted-by":"crossref","first-page":"5017","DOI":"10.1167\/iovs.05-1468","article-title":"Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2","volume":"47","author":"Chang","year":"2006","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_174","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.exer.2018.02.024","article-title":"Loss of cone function without degeneration in a novel Gnat2 knock-out mouse","volume":"171","author":"Ronning","year":"2018","journal-title":"Exp. Eye Res."},{"key":"ref_175","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1080\/13816810.2017.1418389","article-title":"Achromatopsia: Clinical features, molecular genetics, animal models and therapeutic options","volume":"39","author":"Hirji","year":"2018","journal-title":"Ophthalmic Genet."},{"key":"ref_176","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1136\/bjo.87.11.1317","article-title":"Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2)","volume":"87","author":"Michaelides","year":"2003","journal-title":"Br. J. Ophthalmol."},{"key":"ref_177","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1007\/978-3-319-75402-4_35","article-title":"How Excessive cGMP Impacts Metabolic Proteins in Retinas at the Onset of Degeneration","volume":"1074","author":"Du","year":"2018","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_178","doi-asserted-by":"crossref","unstructured":"Tolone, A., Belhadj, S., Rentsch, A., Schwede, F., and Paquet-Durand, F. (2019). The cGMP Pathway and Inherited Photoreceptor Degeneration: Targets, Compounds, and Biomarkers. Genes, 10.","DOI":"10.3390\/genes10060453"},{"key":"ref_179","doi-asserted-by":"crossref","first-page":"5486","DOI":"10.1093\/hmg\/ddv275","article-title":"Retinitis pigmentosa: Impact of different Pde6a point mutations on the disease phenotype","volume":"24","author":"Sothilingam","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_180","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1093\/hmg\/ddn327","article-title":"New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a gene","volume":"18","author":"Sakamoto","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"ref_181","doi-asserted-by":"crossref","first-page":"100772","DOI":"10.1016\/j.preteyeres.2019.07.005","article-title":"Cellular mechanisms of hereditary photoreceptor degeneration\u2014Focus on cGMP","volume":"74","author":"Power","year":"2020","journal-title":"Prog. Retin. Eye Res."},{"key":"ref_182","doi-asserted-by":"crossref","first-page":"1026","DOI":"10.1126\/science.272.5264.1026","article-title":"Retinal degeneration in mice lacking the gamma subunit of the rod cGMP phosphodiesterase","volume":"272","author":"Tsang","year":"1996","journal-title":"Science"},{"key":"ref_183","doi-asserted-by":"crossref","first-page":"5952","DOI":"10.1167\/iovs.10-5680","article-title":"Progressive loss of cones in achromatopsia: An imaging study using spectral-domain optical coherence tomography","volume":"51","author":"Thiadens","year":"2010","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_184","doi-asserted-by":"crossref","first-page":"10242","DOI":"10.1074\/jbc.M114.611921","article-title":"Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory","volume":"290","author":"Brennenstuhl","year":"2015","journal-title":"J. Biol. Chem."},{"key":"ref_185","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1016\/j.ajhg.2012.07.006","article-title":"A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia","volume":"91","author":"Kohl","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"ref_186","doi-asserted-by":"crossref","unstructured":"Pedurupillay, C.R., Landsend, E.C., Vigeland, M.D., Ansar, M., Frengen, E., Misceo, D., and Stromme, P. (2016). Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan. Genes, 7.","DOI":"10.3390\/genes7080041"},{"key":"ref_187","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1016\/S0896-6273(02)01098-X","article-title":"Subunit stoichiometry of the CNG channel of rod photoreceptors","volume":"36","author":"Weitz","year":"2002","journal-title":"Neuron"},{"key":"ref_188","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1016\/S0896-6273(02)01099-1","article-title":"Rod cyclic nucleotide-gated channels have a stoichiometry of three CNGA1 subunits and one CNGB1 subunit","volume":"36","author":"Zheng","year":"2002","journal-title":"Neuron"},{"key":"ref_189","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1523\/JNEUROSCI.3764-04.2005","article-title":"Impaired channel targeting and retinal degeneration in mice lacking the cyclic nucleotide-gated channel subunit CNGB1","volume":"25","author":"Huttl","year":"2005","journal-title":"J. Neurosci."},{"key":"ref_190","doi-asserted-by":"crossref","first-page":"5915","DOI":"10.1093\/hmg\/ddv319","article-title":"A new mouse model for stationary night blindness with mutant Slc24a1 explains the pathophysiology of the associated human disease","volume":"24","author":"Vinberg","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_191","doi-asserted-by":"crossref","first-page":"5889","DOI":"10.1523\/JNEUROSCI.19-14-05889.1999","article-title":"Disruption of a retinal guanylyl cyclase gene leads to cone-specific dystrophy and paradoxical rod behavior","volume":"19","author":"Yang","year":"1999","journal-title":"J. Neurosci."},{"key":"ref_192","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.ajo.2019.10.019","article-title":"GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies","volume":"210","author":"Bouzia","year":"2020","journal-title":"Am. J. Ophthalmol."},{"key":"ref_193","doi-asserted-by":"crossref","first-page":"8837","DOI":"10.1074\/jbc.M610369200","article-title":"The function of guanylate cyclase 1 and guanylate cyclase 2 in rod and cone photoreceptors","volume":"282","author":"Baehr","year":"2007","journal-title":"J. Biol. Chem."},{"key":"ref_194","doi-asserted-by":"crossref","first-page":"9948","DOI":"10.1073\/pnas.171308998","article-title":"Role of guanylate cyclase-activating proteins (GCAPs) in setting the flash sensitivity of rod photoreceptors","volume":"98","author":"Mendez","year":"2001","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_195","doi-asserted-by":"crossref","unstructured":"Buch, P.K., Mihelec, M., Cottrill, P., Wilkie, S.E., Pearson, R.A., Duran, Y., West, E.L., Michaelides, M., Ali, R.R., and Hunt, D.M. (2011). Dominant cone-rod dystrophy: A mouse model generated by gene targeting of the GCAP1\/Guca1a gene. PLoS ONE, 6.","DOI":"10.1371\/journal.pone.0018089"},{"key":"ref_196","first-page":"4204","article-title":"A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors","volume":"27","author":"Marino","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"ref_197","doi-asserted-by":"crossref","first-page":"3718","DOI":"10.1073\/pnas.96.7.3718","article-title":"Abnormal photoresponses and light-induced apoptosis in rods lacking rhodopsin kinase","volume":"96","author":"Chen","year":"1999","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_198","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1038\/39068","article-title":"Prolonged photoresponses in transgenic mouse rods lacking arrestin","volume":"389","author":"Xu","year":"1997","journal-title":"Nature"},{"key":"ref_199","first-page":"2978","article-title":"Increased susceptibility to light damage in an arrestin knockout mouse model of Oguchi disease (stationary night blindness)","volume":"40","author":"Chen","year":"1999","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_200","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1007\/978-3-319-17121-0_24","article-title":"A Chemical Mutagenesis Screen Identifies Mouse Models with ERG Defects","volume":"854","author":"Charette","year":"2016","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_201","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1038\/eye.2009.229","article-title":"Inherited metabolic disorders involving the eye: A clinico-biochemical perspective","volume":"24","author":"Rajappa","year":"2010","journal-title":"Eye"},{"key":"ref_202","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.ejpn.2011.03.005","article-title":"The eye in metabolic diseases: Clues to diagnosis","volume":"15","year":"2011","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_203","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1038\/nrg2717","article-title":"Photoreceptor degeneration: Genetic and mechanistic dissection of a complex trait","volume":"11","author":"Wright","year":"2010","journal-title":"Nat. Rev. Genet."},{"key":"ref_204","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/0163-7827(83)90004-8","article-title":"Chemistry and metabolism of lipids in the vertebrate retina","volume":"22","author":"Fliesler","year":"1983","journal-title":"Prog. Lipid Res."},{"key":"ref_205","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1194\/jlr.R001891","article-title":"Lipid second messengers and related enzymes in vertebrate rod outer segments","volume":"51","author":"Giusto","year":"2010","journal-title":"J. Lipid Res."},{"key":"ref_206","doi-asserted-by":"crossref","first-page":"20139","DOI":"10.1074\/jbc.M200594200","article-title":"Manipulation of cholesterol levels in rod disk membranes by methyl-beta-cyclodextrin: Effects on receptor activation","volume":"277","author":"Niu","year":"2002","journal-title":"J. Biol. Chem."},{"key":"ref_207","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1016\/j.exer.2008.08.010","article-title":"Lipid and fatty acid profile of the retina, retinal pigment epithelium\/choroid, and the lacrimal gland, and associations with adipose tissue fatty acids in human subjects","volume":"87","author":"Bretillon","year":"2008","journal-title":"Exp. Eye Res."},{"key":"ref_208","doi-asserted-by":"crossref","first-page":"3399","DOI":"10.1194\/jlr.R010538","article-title":"The ins and outs of cholesterol in the vertebrate retina","volume":"51","author":"Fliesler","year":"2010","journal-title":"J. Lipid Res."},{"key":"ref_209","doi-asserted-by":"crossref","first-page":"1737","DOI":"10.1039\/c5pp00194c","article-title":"Light, lipids and photoreceptor survival: Live or let die?","volume":"14","author":"German","year":"2015","journal-title":"Photochem. Photobiol. Sci."},{"key":"ref_210","doi-asserted-by":"crossref","first-page":"12054","DOI":"10.1074\/jbc.M117.790568","article-title":"Docosahexaenoic acid preserves visual function by maintaining correct disc morphology in retinal photoreceptor cells","volume":"292","author":"Shindou","year":"2017","journal-title":"J. Biol. Chem."},{"key":"ref_211","doi-asserted-by":"crossref","first-page":"9689","DOI":"10.1523\/JNEUROSCI.1142-19.2019","article-title":"Disrupted Blood-Retina Lysophosphatidylcholine Transport Impairs Photoreceptor Health But Not Visual Signal Transduction","volume":"39","author":"Lobanova","year":"2019","journal-title":"J. Neurosci."},{"key":"ref_212","doi-asserted-by":"crossref","first-page":"18486","DOI":"10.1074\/jbc.M117.801472","article-title":"Defining a mechanistic link between pigment epithelium-derived factor, docosahexaenoic acid, and corneal nerve regeneration","volume":"292","author":"Pham","year":"2017","journal-title":"J. Biol. Chem."},{"key":"ref_213","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1038\/s41419-018-0613-y","article-title":"Pigment epithelium-derived factor hinders photoreceptor cell death by reducing intracellular calcium in the degenerating retina","volume":"9","author":"Comitato","year":"2018","journal-title":"Cell Death Dis."},{"key":"ref_214","first-page":"3331","article-title":"Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene","volume":"42","author":"Bernstein","year":"2001","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_215","doi-asserted-by":"crossref","first-page":"4558","DOI":"10.1167\/iovs.06-0353","article-title":"Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degeneration","volume":"47","author":"Vasireddy","year":"2006","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_216","doi-asserted-by":"crossref","first-page":"15523","DOI":"10.1073\/pnas.1002897107","article-title":"Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice","volume":"107","author":"Friedman","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_217","doi-asserted-by":"crossref","first-page":"R53","DOI":"10.1007\/s004240000004","article-title":"The Str mouse as a model for incontinentia pigmenti","volume":"440","author":"Perkovic","year":"2000","journal-title":"Pflugers Arch."},{"key":"ref_218","first-page":"1138","article-title":"Phospholipid flippase ATP8A2 is required for normal visual and auditory function and photoreceptor and spiral ganglion cell survival","volume":"127","author":"Coleman","year":"2014","journal-title":"J. Cell Sci."},{"key":"ref_219","doi-asserted-by":"crossref","first-page":"40562","DOI":"10.1074\/jbc.M110.139543","article-title":"CDC50 proteins are critical components of the human class-1 P4-ATPase transport machinery","volume":"285","author":"Bryde","year":"2010","journal-title":"J. Biol. Chem."},{"key":"ref_220","doi-asserted-by":"crossref","first-page":"40088","DOI":"10.1074\/jbc.M110.139006","article-title":"Heteromeric interactions required for abundance and subcellular localization of human CDC50 proteins and class 1 P4-ATPases","volume":"285","author":"Wichers","year":"2010","journal-title":"J. Biol. Chem."},{"key":"ref_221","doi-asserted-by":"crossref","first-page":"9296","DOI":"10.1038\/s41598-017-09506-5","article-title":"Loss of Tmem30a leads to photoreceptor degeneration","volume":"7","author":"Zhang","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_222","first-page":"99","article-title":"Energy metabolism of the visual system","volume":"2","year":"2010","journal-title":"Eye Brain"},{"key":"ref_223","doi-asserted-by":"crossref","first-page":"4698","DOI":"10.1074\/jbc.M115.698985","article-title":"Phototransduction Influences Metabolic Flux and Nucleotide Metabolism in Mouse Retina","volume":"291","author":"Du","year":"2016","journal-title":"J. Biol. Chem."},{"key":"ref_224","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1038\/nm.4059","article-title":"Retinal lipid and glucose metabolism dictates angiogenesis through the lipid sensor Ffar1","volume":"22","author":"Joyal","year":"2016","journal-title":"Nat. Med."},{"key":"ref_225","first-page":"4157","article-title":"Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa","volume":"27","author":"Zhang","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"ref_226","doi-asserted-by":"crossref","first-page":"6572","DOI":"10.1167\/iovs.10-7082","article-title":"The role of Vldlr in intraretinal angiogenesis in mice","volume":"52","author":"Xia","year":"2011","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_227","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1167\/iovs.07-0870","article-title":"Expression of VLDLR in the retina and evolution of subretinal neovascularization in the knockout mouse model\u2019s retinal angiomatous proliferation","volume":"49","author":"Hu","year":"2008","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_228","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/j.mvr.2009.02.005","article-title":"Photoreceptor degeneration and retinal inflammation induced by very low-density lipoprotein receptor deficiency","volume":"78","author":"Chen","year":"2009","journal-title":"Microvasc. Res."},{"key":"ref_229","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.celrep.2016.08.073","article-title":"NAMPT-Mediated NAD(+) Biosynthesis Is Essential for Vision In Mice","volume":"17","author":"Lin","year":"2016","journal-title":"Cell Rep."},{"key":"ref_230","doi-asserted-by":"crossref","first-page":"1925","DOI":"10.1016\/j.ajpath.2016.03.013","article-title":"Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease","volume":"186","author":"Greenwald","year":"2016","journal-title":"Am. J. Pathol."},{"key":"ref_231","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1093\/emboj\/20.6.1289","article-title":"Male germ cells and photoreceptors, both dependent on close cell-cell interactions, degenerate upon ClC-2 Cl(-) channel disruption","volume":"20","author":"Bosl","year":"2001","journal-title":"EMBO J."},{"key":"ref_232","doi-asserted-by":"crossref","first-page":"3347","DOI":"10.1523\/JNEUROSCI.5267-09.2010","article-title":"Type 3 deiodinase, a thyroid-hormone-inactivating enzyme, controls survival and maturation of cone photoreceptors","volume":"30","author":"Ng","year":"2010","journal-title":"J. Neurosci."},{"key":"ref_233","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1038\/83829","article-title":"A thyroid hormone receptor that is required for the development of green cone photoreceptors","volume":"27","author":"Ng","year":"2001","journal-title":"Nat. Genet."},{"key":"ref_234","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1167\/iovs.15-18235","article-title":"Cone Viability Is Affected by Disruption of Melatonin Receptors Signaling","volume":"57","author":"Gianesini","year":"2016","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_235","doi-asserted-by":"crossref","first-page":"15043","DOI":"10.1073\/pnas.0904400106","article-title":"Melatonin modulates visual function and cell viability in the mouse retina via the MT1 melatonin receptor","volume":"106","author":"Baba","year":"2009","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_236","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1016\/S1542-0124(12)70185-4","article-title":"Antioxidant defenses in the ocular surface","volume":"7","author":"Chen","year":"2009","journal-title":"Ocul. Surf."},{"key":"ref_237","doi-asserted-by":"crossref","first-page":"3164734","DOI":"10.1155\/2016\/3164734","article-title":"The Role of the Reactive Oxygen Species and Oxidative Stress in the Pathomechanism of the Age-Related Ocular Diseases and Other Pathologies of the Anterior and Posterior Eye Segments in Adults","volume":"2016","author":"Nita","year":"2016","journal-title":"Oxid. Med. Cell Longev."},{"key":"ref_238","doi-asserted-by":"crossref","first-page":"1895","DOI":"10.1167\/iovs.08-2850","article-title":"Dysfunction of the retinal pigment epithelium with age: Increased iron decreases phagocytosis and lysosomal activity","volume":"50","author":"Chen","year":"2009","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_239","doi-asserted-by":"crossref","first-page":"2996","DOI":"10.3390\/ijms14022996","article-title":"Mitochondrial and nuclear DNA damage and repair in age-related macular degeneration","volume":"14","author":"Blasiak","year":"2013","journal-title":"Int. J. Mol. Sci."},{"key":"ref_240","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.3389\/fphar.2018.01162","article-title":"Antioxidant and Oxidative Stress: A Mutual Interplay in Age-Related Diseases","volume":"9","author":"Tan","year":"2018","journal-title":"Front. Pharmacol."},{"key":"ref_241","doi-asserted-by":"crossref","first-page":"1080","DOI":"10.1016\/j.cub.2014.03.061","article-title":"Inefficient double-strand break repair in murine rod photoreceptors with inverted heterochromatin organization","volume":"24","author":"Frohns","year":"2014","journal-title":"Curr. Biol."},{"key":"ref_242","doi-asserted-by":"crossref","first-page":"768026","DOI":"10.1155\/2014\/768026","article-title":"Oxidative stress, hypoxia, and autophagy in the neovascular processes of age-related macular degeneration","volume":"2014","author":"Blasiak","year":"2014","journal-title":"Biomed. Res. Int."},{"key":"ref_243","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1007\/s10522-013-9463-2","article-title":"Role of antioxidant enzymes and small molecular weight antioxidants in the pathogenesis of age-related macular degeneration (AMD)","volume":"14","author":"Tokarz","year":"2013","journal-title":"Biogerontology"},{"key":"ref_244","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.2353\/ajpath.2008.070730","article-title":"Retinal dysfunction and progressive retinal cell death in SOD1-deficient mice","volume":"172","author":"Hashizume","year":"2008","journal-title":"Am. J. Pathol."},{"key":"ref_245","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1007\/978-3-319-17121-0_5","article-title":"Conditional Induction of Oxidative Stress in RPE: A Mouse Model of Progressive Retinal Degeneration","volume":"854","author":"Biswal","year":"2016","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_246","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1038\/cdd.2010.2","article-title":"The disruption of the rod-derived cone viability gene leads to photoreceptor dysfunction and susceptibility to oxidative stress","volume":"17","author":"Cronin","year":"2010","journal-title":"Cell Death Differ."},{"key":"ref_247","doi-asserted-by":"crossref","first-page":"2298","DOI":"10.1093\/hmg\/dds050","article-title":"Nxnl2 splicing results in dual functions in neuronal cell survival and maintenance of cell integrity","volume":"21","author":"Jaillard","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"ref_248","doi-asserted-by":"crossref","first-page":"15185","DOI":"10.1073\/pnas.261456098","article-title":"Delayed-onset ataxia in mice lacking alpha -tocopherol transfer protein: Model for neuronal degeneration caused by chronic oxidative stress","volume":"98","author":"Yokota","year":"2001","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_249","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/s13024-018-0300-6","article-title":"Emerging new roles of the lysosome and neuronal ceroid lipofuscinoses","volume":"14","author":"Mukherjee","year":"2019","journal-title":"Mol. Neurodegener."},{"key":"ref_250","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1016\/j.bbamcr.2008.09.020","article-title":"Principles of lysosomal membrane degradation: Cellular topology and biochemistry of lysosomal lipid degradation","volume":"1793","author":"Schulze","year":"2009","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_251","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1006\/mgme.1999.2829","article-title":"Retinal degeneration in retinitis pigmentosa and neuronal ceroid lipofuscinosis: An overview","volume":"66","author":"Birch","year":"1999","journal-title":"Mol. Genet. Metab."},{"key":"ref_252","first-page":"73","article-title":"Juvenile neuronal ceroid lipofuscinosis (Batten disease): Current insights","volume":"6","author":"Ostergaard","year":"2016","journal-title":"Degener. Neurol. Neuromuscul. Dis."},{"key":"ref_253","doi-asserted-by":"crossref","first-page":"1597","DOI":"10.1038\/s41598-017-01716-1","article-title":"Retinal Degeneration In A Mouse Model Of CLN5 Disease Is Associated With Compromised Autophagy","volume":"7","author":"Leinonen","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_254","doi-asserted-by":"crossref","first-page":"6952","DOI":"10.1167\/iovs.13-12945","article-title":"Apoptotic photoreceptor loss and altered expression of lysosomal proteins in the nclf mouse model of neuronal ceroid lipofuscinosis","volume":"54","author":"Bartsch","year":"2013","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_255","doi-asserted-by":"crossref","first-page":"4989","DOI":"10.1167\/iovs.16-20158","article-title":"Retinal Degeneration in Mice Deficient in the Lysosomal Membrane Protein CLN7","volume":"57","author":"Jankowiak","year":"2016","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_256","first-page":"1071","article-title":"Retinal degeneration in motor neuron degeneration: A mouse model of ceroid lipofuscinosis","volume":"35","author":"Chang","year":"1994","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_257","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1016\/j.brainres.2014.09.023","article-title":"Progressive retinal degeneration and accumulation of autofluorescent lipopigments in Progranulin deficient mice","volume":"1588","author":"Hafler","year":"2014","journal-title":"Brain Res."},{"key":"ref_258","doi-asserted-by":"crossref","unstructured":"Heldermon, C.D., Hennig, A.K., Ohlemiller, K.K., Ogilvie, J.M., Herzog, E.D., Breidenbach, A., Vogler, C., Wozniak, D.F., and Sands, M.S. (2007). Development of sensory, motor and behavioral deficits in the murine model of Sanfilippo syndrome type B. PLoS ONE, 2.","DOI":"10.1371\/journal.pone.0000772"},{"key":"ref_259","doi-asserted-by":"crossref","first-page":"5221","DOI":"10.1167\/iovs.07-0452","article-title":"Mice lacking alpha\/beta subunits of GlcNAc-1-phosphotransferase exhibit growth retardation, retinal degeneration, and secretory cell lesions","volume":"48","author":"Gelfman","year":"2007","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_260","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1152\/physiol.00038.2009","article-title":"Phagocytosis of retinal rod and cone photoreceptors","volume":"25","author":"Kevany","year":"2010","journal-title":"Physiology"},{"key":"ref_261","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1016\/j.mcn.2006.06.011","article-title":"TAM receptor function in the retinal pigment epithelium","volume":"33","author":"Prasad","year":"2006","journal-title":"Mol. Cell Neurosci."},{"key":"ref_262","doi-asserted-by":"crossref","first-page":"826","DOI":"10.1167\/iovs.02-0438","article-title":"An RCS-like retinal dystrophy phenotype in mer knockout mice","volume":"44","author":"Duncan","year":"2003","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_263","doi-asserted-by":"crossref","unstructured":"Houssier, M., Raoul, W., Lavalette, S., Keller, N., Guillonneau, X., Baragatti, B., Jonet, L., Jeanny, J.C., Behar-Cohen, F., and Coceani, F. (2008). CD36 deficiency leads to choroidal involution via COX2 down-regulation in rodents. PLoS Med., 5.","DOI":"10.1371\/journal.pmed.0050039"},{"key":"ref_264","doi-asserted-by":"crossref","first-page":"17546","DOI":"10.1074\/jbc.RA118.005484","article-title":"The small GTPase RAB28 is required for phagocytosis of cone outer segments by the murine retinal pigmented epithelium","volume":"293","author":"Ying","year":"2018","journal-title":"J. Biol. Chem."},{"key":"ref_265","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1159\/000487486","article-title":"Autophagy: A Role in the Apoptosis, Survival, Inflammation, and Development of the Retina","volume":"61","author":"Lin","year":"2019","journal-title":"Ophthalmic Res."},{"key":"ref_266","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1042\/EBC20170055","article-title":"Dysregulation of autophagy as a common mechanism in lysosomal storage diseases","volume":"61","author":"Seranova","year":"2017","journal-title":"Essays Biochem."},{"key":"ref_267","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1093\/brain\/awv393","article-title":"EPG5-related Vici syndrome: A paradigm of neurodevelopmental disorders with defective autophagy","volume":"139","author":"Byrne","year":"2016","journal-title":"Brain"},{"key":"ref_268","first-page":"105","article-title":"Adverse drug reactions causing hospital admission in an elderly population: Experience with a decision algorithm","volume":"3","author":"Smucker","year":"1990","journal-title":"J. Am. Board Fam. Pract."},{"key":"ref_269","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1016\/j.cell.2013.06.012","article-title":"Noncanonical autophagy promotes the visual cycle","volume":"154","author":"Kim","year":"2013","journal-title":"Cell"},{"key":"ref_270","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/j.brainres.2014.08.055","article-title":"Autophagy and ER-stress contribute to photoreceptor degeneration in cultured adult porcine retina","volume":"1585","author":"Mohlin","year":"2014","journal-title":"Brain Res."},{"key":"ref_271","doi-asserted-by":"crossref","first-page":"7506","DOI":"10.1074\/jbc.M112.439935","article-title":"Autophagy protects the retina from light-induced degeneration","volume":"288","author":"Chen","year":"2013","journal-title":"J. Biol. Chem."},{"key":"ref_272","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1097\/DBP.0b013e3181ef42c1","article-title":"Neurodevelopmental manifestations of mitochondrial disease","volume":"31","author":"Falk","year":"2010","journal-title":"J. Dev. Behav. Pediatr."},{"key":"ref_273","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1093\/brain\/awm333","article-title":"A missense mutation in the murine Opa3 gene models human Costeff syndrome","volume":"131","author":"Davies","year":"2008","journal-title":"Brain"},{"key":"ref_274","first-page":"036426","article-title":"Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function","volume":"11","author":"Findlay","year":"2018","journal-title":"Dis. Model. Mech."},{"key":"ref_275","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1021\/acs.jproteome.7b00741","article-title":"Proteome of Bovine Mitochondria and Rod Outer Segment Disks: Commonalities and Differences","volume":"17","author":"Bruschi","year":"2018","journal-title":"J. Proteome Res."},{"key":"ref_276","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1111\/boc.201300003","article-title":"New findings in ATP supply in rod outer segments: Insights for retinopathies","volume":"105","author":"Calzia","year":"2013","journal-title":"Biol. Cell"},{"key":"ref_277","doi-asserted-by":"crossref","first-page":"29","DOI":"10.5318\/wjo.v4.i3.29","article-title":"Blue light induced retinal oxidative stress: Implications for macular degeneration","volume":"4","author":"Funk","year":"2014","journal-title":"World J. Ophthalmol."},{"key":"ref_278","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1016\/j.biochi.2014.02.007","article-title":"Functional expression of electron transport chain complexes in mouse rod outer segments","volume":"102","author":"Calzia","year":"2014","journal-title":"Biochimie"},{"key":"ref_279","doi-asserted-by":"crossref","unstructured":"Roehlecke, C., Schumann, U., Ader, M., Brunssen, C., Bramke, S., Morawietz, H., and Funk, R.H. (2013). Stress reaction in outer segments of photoreceptors after blue light irradiation. PLoS ONE, 8.","DOI":"10.1371\/journal.pone.0071570"},{"key":"ref_280","first-page":"83","article-title":"Metabolic Interplay between Peroxisomes and Other Subcellular Organelles Including Mitochondria and the Endoplasmic Reticulum","volume":"3","author":"Wanders","year":"2015","journal-title":"Front. Cell Dev. Biol."},{"key":"ref_281","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1016\/0039-6257(91)90185-I","article-title":"The peroxisome and the eye","volume":"35","author":"Folz","year":"1991","journal-title":"Surv. Ophthalmol."},{"key":"ref_282","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1007\/s11010-018-3489-3","article-title":"Differential distribution of peroxisomal proteins points to specific roles of peroxisomes in the murine retina","volume":"456","author":"Das","year":"2019","journal-title":"Mol. Cell Biochem."},{"key":"ref_283","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1016\/j.ymgme.2014.01.008","article-title":"The Pex1-G844D mouse: A model for mild human Zellweger spectrum disorder","volume":"111","author":"Hiebler","year":"2014","journal-title":"Mol. Genet. Metab."},{"key":"ref_284","first-page":"152","article-title":"Retinal degeneration 12 (rd12): A new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA)","volume":"11","author":"Pang","year":"2005","journal-title":"Mol. Vis."},{"key":"ref_285","doi-asserted-by":"crossref","first-page":"2500","DOI":"10.1167\/iovs.13-13574","article-title":"The Rpe65 rd12 allele exerts a semidominant negative effect on vision in mice","volume":"55","author":"Wright","year":"2014","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_286","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1038\/3813","article-title":"Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle","volume":"20","author":"Redmond","year":"1998","journal-title":"Nat. Genet."},{"key":"ref_287","doi-asserted-by":"crossref","unstructured":"Tanabu, R., Sato, K., Monai, N., Yamauchi, K., Gonome, T., Xie, Y., Takahashi, S., Ishiguro, S.I., and Nakazawa, M. (2019). The findings of optical coherence tomography of retinal degeneration in relation to the morphological and electroretinographic features in RPE65-\/- mice. PLoS ONE, 14.","DOI":"10.1371\/journal.pone.0210439"},{"key":"ref_288","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1038\/ng1246","article-title":"Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis","volume":"35","author":"Woodruff","year":"2003","journal-title":"Nat. Genet."},{"key":"ref_289","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1093\/hmg\/ddm304","article-title":"R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal","volume":"17","author":"Samardzija","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"ref_290","doi-asserted-by":"crossref","first-page":"2225","DOI":"10.1093\/hmg\/ddy128","article-title":"Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65","volume":"27","author":"Choi","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"ref_291","doi-asserted-by":"crossref","first-page":"3821","DOI":"10.1167\/iovs.07-1470","article-title":"Accelerated accumulation of lipofuscin pigments in the RPE of a mouse model for ABCA4-mediated retinal dystrophies following Vitamin A supplementation","volume":"49","author":"Radu","year":"2008","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_292","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/S0092-8674(00)80602-9","article-title":"Insights into the function of Rim protein in photoreceptors and etiology of Stargardt\u2019s disease from the phenotype in abcr knockout mice","volume":"98","author":"Weng","year":"1999","journal-title":"Cell"},{"key":"ref_293","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1093\/hmg\/ddx400","article-title":"Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration","volume":"27","author":"Molday","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"ref_294","doi-asserted-by":"crossref","first-page":"3220","DOI":"10.1093\/hmg\/ddv073","article-title":"Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations","volume":"24","author":"Zhang","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_295","doi-asserted-by":"crossref","first-page":"1910","DOI":"10.1167\/iovs.14-13867","article-title":"Light damage in Abca4 and Rpe65rd12 mice","volume":"55","author":"Wu","year":"2014","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_296","doi-asserted-by":"crossref","first-page":"26684","DOI":"10.1074\/jbc.M804505200","article-title":"Retinopathy in mice induced by disrupted all-trans-retinal clearance","volume":"283","author":"Maeda","year":"2008","journal-title":"J. Biol. Chem."},{"key":"ref_297","doi-asserted-by":"crossref","first-page":"5059","DOI":"10.1074\/jbc.M111.315432","article-title":"Mechanism of all-trans-retinal toxicity with implications for stargardt disease and age-related macular degeneration","volume":"287","author":"Chen","year":"2012","journal-title":"J. Biol. Chem."},{"key":"ref_298","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1111\/j.1471-4159.2012.07647.x","article-title":"Retinal cone and rod photoreceptor cells exhibit differential susceptibility to light-induced damage","volume":"121","author":"Okano","year":"2012","journal-title":"J. Neurochem."},{"key":"ref_299","doi-asserted-by":"crossref","first-page":"10422","DOI":"10.1074\/jbc.M312410200","article-title":"Lecithin-retinol acyltransferase is essential for accumulation of all-trans-retinyl esters in the eye and in the liver","volume":"279","author":"Batten","year":"2004","journal-title":"J. Biol. Chem."},{"key":"ref_300","doi-asserted-by":"crossref","first-page":"5377","DOI":"10.1167\/iovs.07-0673","article-title":"Somatic ablation of the Lrat gene in the mouse retinal pigment epithelium drastically reduces its retinoid storage","volume":"48","author":"Ruiz","year":"2007","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_301","doi-asserted-by":"crossref","first-page":"4511","DOI":"10.1523\/JNEUROSCI.18-12-04511.1998","article-title":"Early onset photoreceptor abnormalities induced by targeted disruption of the interphotoreceptor retinoid-binding protein gene","volume":"18","author":"Liou","year":"1998","journal-title":"J. Neurosci."},{"key":"ref_302","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1038\/labinvest.2016.39","article-title":"Severe ocular phenotypes in Rbp4-deficient mice in the C57BL\/6 genetic background","volume":"96","author":"Shen","year":"2016","journal-title":"Lab. Investig."},{"key":"ref_303","doi-asserted-by":"crossref","first-page":"3027","DOI":"10.1167\/iovs.11-8476","article-title":"Retinoid content, visual responses, and ocular morphology are compromised in the retinas of mice lacking the retinol-binding protein receptor, STRA6","volume":"53","author":"Ruiz","year":"2012","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_304","doi-asserted-by":"crossref","first-page":"5402","DOI":"10.1093\/hmg\/ddu258","article-title":"STRA6 is critical for cellular vitamin A uptake and homeostasis","volume":"23","author":"Amengual","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"ref_305","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1146\/annurev.ph.56.030194.001041","article-title":"Synaptic transmission in the outer retina","volume":"56","author":"Wu","year":"1994","journal-title":"Annu. Rev. Physiol."},{"key":"ref_306","first-page":"1263","article-title":"Synaptic organization of the vertebrate retina: General principles and species-specific variations: The Friedenwald lecture","volume":"51","author":"Wu","year":"2010","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_307","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1017\/S0952523811000356","article-title":"The dynamic architecture of photoreceptor ribbon synapses: Cytoskeletal, extracellular matrix, and intramembrane proteins","volume":"28","author":"Mercer","year":"2011","journal-title":"Vis. Neurosci."},{"key":"ref_308","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.1007\/s00018-019-03324-w","article-title":"Molecular mechanisms underlying selective synapse formation of vertebrate retinal photoreceptor cells","volume":"77","author":"Furukawa","year":"2019","journal-title":"Cell Mol. Life Sci."},{"key":"ref_309","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1007\/s10633-013-9424-8","article-title":"Mouse b-wave mutants","volume":"128","author":"Pardue","year":"2014","journal-title":"Doc. Ophthalmol."},{"key":"ref_310","first-page":"462","article-title":"mdxCv3 mouse is a model for electroretinography of Duchenne\/Becker muscular dystrophy","volume":"36","author":"Pillers","year":"1995","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_311","doi-asserted-by":"crossref","first-page":"13136","DOI":"10.1523\/JNEUROSCI.0474-09.2009","article-title":"Visual impairment in the absence of dystroglycan","volume":"29","author":"Satz","year":"2009","journal-title":"J. Neurosci."},{"key":"ref_312","doi-asserted-by":"crossref","first-page":"2953","DOI":"10.1111\/j.1460-9568.2004.03753.x","article-title":"Impaired formation of the inner retina in an AChE knockout mouse results in degeneration of all photoreceptors","volume":"20","author":"Bytyqi","year":"2004","journal-title":"Eur. J. Neurosci."},{"key":"ref_313","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1046\/j.1432-1327.1999.00693.x","article-title":"Structural roles of acetylcholinesterase variants in biology and pathology","volume":"264","author":"Grisaru","year":"1999","journal-title":"Eur. J. Biochem."},{"key":"ref_314","doi-asserted-by":"crossref","unstructured":"Regus-Leidig, H., Atorf, J., Feigenspan, A., Kremers, J., Maw, M.A., and Brandstatter, J.H. (2014). Photoreceptor degeneration in two mouse models for congenital stationary night blindness type 2. PLoS ONE, 9.","DOI":"10.1371\/journal.pone.0086769"},{"key":"ref_315","doi-asserted-by":"crossref","first-page":"6145","DOI":"10.1523\/JNEUROSCI.3818-16.2018","article-title":"alpha2delta-4 Is Required for the Molecular and Structural Organization of Rod and Cone Photoreceptor Synapses","volume":"38","author":"Kerov","year":"2018","journal-title":"J. Neurosci."},{"key":"ref_316","first-page":"4039","article-title":"Abnormalities of the photoreceptor-bipolar cell synapse in a substrain of C57BL\/10 mice","volume":"41","author":"Ruether","year":"2000","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_317","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1038\/nn1320","article-title":"Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function","volume":"7","author":"Haeseleer","year":"2004","journal-title":"Nat. Neurosci."},{"key":"ref_318","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1016\/j.exer.2006.10.016","article-title":"Targeted inactivation of synaptic HRG4 (UNC119) causes dysfunction in the distal photoreceptor and slow retinal degeneration, revealing a new function","volume":"84","author":"Ishiba","year":"2007","journal-title":"Exp. Eye Res."},{"key":"ref_319","doi-asserted-by":"crossref","first-page":"2366","DOI":"10.1167\/iovs.07-1166","article-title":"Interaction and colocalization of CaBP4 and Unc119 (MRG4) in photoreceptors","volume":"49","author":"Haeseleer","year":"2008","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_320","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/bs.apcsb.2015.11.006","article-title":"Ion Channels in the Eye: Involvement in Ocular Pathologies","volume":"104","author":"Giblin","year":"2016","journal-title":"Adv. Protein Chem. Struct. Biol."},{"key":"ref_321","doi-asserted-by":"crossref","first-page":"3264","DOI":"10.1167\/iovs.09-4887","article-title":"Photoreceptor degeneration, azoospermia, leukoencephalopathy, and abnormal RPE cell function in mice expressing an early stop mutation in CLCN2","volume":"51","author":"Edwards","year":"2010","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_322","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/S0896-6273(01)00189-1","article-title":"Disruption of ClC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus","volume":"29","author":"Stobrawa","year":"2001","journal-title":"Neuron"},{"key":"ref_323","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1177\/0300985810370164","article-title":"An alternative splicing variant in Clcn7-\/- mice prevents osteopetrosis but not neural and retinal degeneration","volume":"48","author":"Rajan","year":"2011","journal-title":"Vet. Pathol."},{"key":"ref_324","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/S0006-8993(02)03519-9","article-title":"Altered GABAergic function accompanies hippocampal degeneration in mice lacking ClC-3 voltage-gated chloride channels","volume":"958","author":"Dickerson","year":"2002","journal-title":"Brain Res."},{"key":"ref_325","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/S0092-8674(01)00206-9","article-title":"Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man","volume":"104","author":"Kornak","year":"2001","journal-title":"Cell"},{"key":"ref_326","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1038\/sj.emboj.7600576","article-title":"Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration","volume":"24","author":"Kasper","year":"2005","journal-title":"EMBO J."},{"key":"ref_327","doi-asserted-by":"crossref","first-page":"784","DOI":"10.15252\/embr.201438553","article-title":"Transport activity and presence of ClC-7\/Ostm1 complex account for different cellular functions","volume":"15","author":"Weinert","year":"2014","journal-title":"EMBO Rep."},{"key":"ref_328","doi-asserted-by":"crossref","first-page":"9192","DOI":"10.1523\/JNEUROSCI.18-22-09192.1998","article-title":"Na,K-ATPase subunit beta1 knock-in prevents lethality of beta2 deficiency in mice","volume":"18","author":"Weber","year":"1998","journal-title":"J. Neurosci."},{"key":"ref_329","first-page":"231","article-title":"Disruption of the taurine transporter gene (taut) leads to retinal degeneration in mice","volume":"16","author":"Rascher","year":"2002","journal-title":"FASEB J."},{"key":"ref_330","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1038\/ng1176","article-title":"Blindness and auditory impairment caused by loss of the sodium bicarbonate cotransporter NBC3","volume":"34","author":"Bok","year":"2003","journal-title":"Nat. Genet."},{"key":"ref_331","doi-asserted-by":"crossref","first-page":"3517","DOI":"10.1038\/ncomms4517","article-title":"SLC7A14 linked to autosomal recessive retinitis pigmentosa","volume":"5","author":"Jin","year":"2014","journal-title":"Nat. Commun."},{"key":"ref_332","doi-asserted-by":"crossref","first-page":"3015","DOI":"10.1167\/iovs.14-15735","article-title":"Mouse slc9a8 mutants exhibit retinal defects due to retinal pigmented epithelium dysfunction","volume":"56","author":"Jadeja","year":"2015","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_333","first-page":"3128","article-title":"Retinal dysfunction in basigin deficiency","volume":"41","author":"Hori","year":"2000","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_334","doi-asserted-by":"crossref","first-page":"2218","DOI":"10.1093\/hmg\/ddx111","article-title":"REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival","volume":"26","author":"Veleri","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"ref_335","doi-asserted-by":"crossref","first-page":"2417","DOI":"10.1167\/iovs.08-3028","article-title":"Acid-sensing ion channel 3 in retinal function and survival","volume":"50","author":"Ettaiche","year":"2009","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_336","doi-asserted-by":"crossref","unstructured":"Li, L., Jiao, X., D\u2019Atri, I., Ono, F., Nelson, R., Chan, C.C., Nakaya, N., Ma, Z., Ma, Y., and Cai, X. (2018). Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genet., 14.","DOI":"10.1371\/journal.pgen.1007504"},{"key":"ref_337","doi-asserted-by":"crossref","first-page":"10501","DOI":"10.1074\/jbc.M116.721340","article-title":"Mfsd2a Is a Transporter for the Essential omega-3 Fatty Acid Docosahexaenoic Acid (DHA) in Eye and Is Important for Photoreceptor Cell Development","volume":"291","author":"Wong","year":"2016","journal-title":"J. Biol. Chem."},{"key":"ref_338","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1042\/BJ20041133","article-title":"The disintegrin domain of ADAM9: A ligand for multiple beta1 renal integrins","volume":"385","author":"Mahimkar","year":"2005","journal-title":"Biochem. J."},{"key":"ref_339","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1016\/j.ajhg.2009.04.005","article-title":"Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice","volume":"84","author":"Parry","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"ref_340","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1007\/978-1-4614-0631-0_64","article-title":"Biology of retinoschisin","volume":"723","author":"Vijayasarathy","year":"2012","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_341","first-page":"569","article-title":"An ENU-induced mutation in Rs1h causes disruption of retinal structure and function","volume":"11","author":"Jablonski","year":"2005","journal-title":"Mol. Vis."},{"key":"ref_342","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1093\/jn\/132.5.904","article-title":"Octanoate attenuates adipogenesis in 3T3-L1 preadipocytes","volume":"132","author":"Han","year":"2002","journal-title":"J. Nutr."},{"key":"ref_343","doi-asserted-by":"crossref","first-page":"3279","DOI":"10.1167\/iovs.04-0576","article-title":"RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis","volume":"45","author":"Zeng","year":"2004","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_344","doi-asserted-by":"crossref","first-page":"175","DOI":"10.3389\/fnins.2017.00175","article-title":"The CRB1 Complex: Following the Trail of Crumbs to a Feasible Gene Therapy Strategy","volume":"11","author":"Quinn","year":"2017","journal-title":"Front. Neurosci."},{"key":"ref_345","doi-asserted-by":"crossref","first-page":"2179","DOI":"10.1093\/hmg\/ddg232","article-title":"CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina","volume":"12","author":"Mehalow","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"ref_346","doi-asserted-by":"crossref","first-page":"4169","DOI":"10.1242\/jcs.01301","article-title":"Crumbs homologue 1 is required for maintenance of photoreceptor cell polarization and adhesion during light exposure","volume":"117","author":"Kantardzhieva","year":"2004","journal-title":"J. Cell Sci."},{"key":"ref_347","doi-asserted-by":"crossref","unstructured":"Quinn, P.M.J., and Wijnholds, J. (2019). Retinogenesis of the Human Fetal Retina: An Apical Polarity Perspective. Genes, 10.","DOI":"10.3390\/genes10120987"},{"key":"ref_348","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1038\/s42003-018-0226-0","article-title":"Identification of genes required for eye development by high-throughput screening of mouse knockouts","volume":"1","author":"Moore","year":"2018","journal-title":"Commun. Biol."},{"key":"ref_349","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1080\/21541248.2016.1215657","article-title":"Cdc42 in actin dynamics: An ordered pathway governed by complex equilibria and directional effector handover","volume":"8","author":"Watson","year":"2017","journal-title":"Small GTPases"},{"key":"ref_350","doi-asserted-by":"crossref","first-page":"2905","DOI":"10.1167\/iovs.04-0856","article-title":"Targeted disruption of FSCN2 gene induces retinopathy in mice","volume":"46","author":"Yokokura","year":"2005","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_351","doi-asserted-by":"crossref","first-page":"3221","DOI":"10.1534\/g3.118.200405","article-title":"Null Mutation of the Fascin2 Gene by TALEN Leading to Progressive Hearing Loss and Retinal Degeneration in C57BL\/6J Mice","volume":"8","author":"Liu","year":"2018","journal-title":"G3"},{"key":"ref_352","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1038\/ng.3474","article-title":"Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity","volume":"48","author":"Saksens","year":"2016","journal-title":"Nat. Genet."},{"key":"ref_353","doi-asserted-by":"crossref","first-page":"3776","DOI":"10.1167\/iovs.14-16047","article-title":"A Mutation in Syne2 Causes Early Retinal Defects in Photoreceptors, Secondary Neurons, and Muller Glia","volume":"56","author":"Maddox","year":"2015","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_354","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1093\/hmg\/ddq549","article-title":"KASH protein Syne-2\/Nesprin-2 and SUN proteins SUN1\/2 mediate nuclear migration during mammalian retinal development","volume":"20","author":"Yu","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"ref_355","doi-asserted-by":"crossref","first-page":"22429","DOI":"10.1074\/jbc.R600015200","article-title":"Wnt signaling: Multiple pathways, multiple receptors, and multiple transcription factors","volume":"281","author":"Gordon","year":"2006","journal-title":"J. Biol. Chem."},{"key":"ref_356","doi-asserted-by":"crossref","first-page":"3567","DOI":"10.1242\/dev.028076","article-title":"An essential role for frizzled 5 in mammalian ocular development","volume":"135","author":"Liu","year":"2008","journal-title":"Development"},{"key":"ref_357","doi-asserted-by":"crossref","first-page":"2588","DOI":"10.1016\/j.ajpath.2016.06.015","article-title":"Pharmacologic Activation of Wnt Signaling by Lithium Normalizes Retinal Vasculature in a Murine Model of Familial Exudative Vitreoretinopathy","volume":"186","author":"Wang","year":"2016","journal-title":"Am. J. Pathol."},{"key":"ref_358","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1093\/hmg\/5.1.51","article-title":"An animal model for Norrie disease (ND): Gene targeting of the mouse ND gene","volume":"5","author":"Berger","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"ref_359","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/j.cell.2009.07.048","article-title":"TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4\/beta-catenin signaling","volume":"139","author":"Junge","year":"2009","journal-title":"Cell"},{"key":"ref_360","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1080\/15216540500137586","article-title":"The Wnt signaling pathway in retinal degenerations","volume":"57","author":"Hackam","year":"2005","journal-title":"IUBMB Life"},{"key":"ref_361","first-page":"3149","article-title":"Retinal degeneration 6 (rd6): A new mouse model for human retinitis punctata albescens","volume":"41","author":"Hawes","year":"2000","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_362","first-page":"14","article-title":"Bibliography: Nurses and smoking","volume":"21","author":"Hawkes","year":"1990","journal-title":"J. N. Y. State Nurses Assoc."},{"key":"ref_363","doi-asserted-by":"crossref","first-page":"2000","DOI":"10.1093\/hmg\/ddr080","article-title":"A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration","volume":"20","author":"Chavali","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"ref_364","doi-asserted-by":"crossref","first-page":"2973","DOI":"10.1128\/MCB.05054-11","article-title":"Loss of Shp2-mediated mitogen-activated protein kinase signaling in Muller glial cells results in retinal degeneration","volume":"31","author":"Cai","year":"2011","journal-title":"Mol. Cell Biol."},{"key":"ref_365","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/j.mcn.2016.01.008","article-title":"Fyn kinase genetic ablation causes structural abnormalities in mature retina and defective Muller cell function","volume":"72","author":"Trevino","year":"2016","journal-title":"Mol. Cell Neurosci."},{"key":"ref_366","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1167\/iovs.15-17495","article-title":"Retinal Pigment Epithelium Atrophy 1 (rpea1): A New Mouse Model With Retinal Detachment Caused by a Disruption of Protein Kinase C, theta","volume":"57","author":"Ji","year":"2016","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_367","doi-asserted-by":"crossref","first-page":"3775","DOI":"10.1167\/iovs.10-7139","article-title":"Deletion of the p85alpha regulatory subunit of phosphoinositide 3-kinase in cone photoreceptor cells results in cone photoreceptor degeneration","volume":"52","author":"Ivanovic","year":"2011","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_368","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.biochi.2015.02.018","article-title":"The p110alpha isoform of phosphoinositide 3-kinase is essential for cone photoreceptor survival","volume":"112","author":"Rajala","year":"2015","journal-title":"Biochimie"},{"key":"ref_369","doi-asserted-by":"crossref","first-page":"1240","DOI":"10.1523\/JNEUROSCI.3664-04.2005","article-title":"Insulin receptor substrate 2 is essential for maturation and survival of photoreceptor cells","volume":"25","author":"Yi","year":"2005","journal-title":"J. Neurosci."},{"key":"ref_370","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/j.ebiom.2018.04.021","article-title":"The Novel Pathogenesis of Retinopathy Mediated by Multiple RTK Signals is Uncovered in Newly Developed Mouse Model","volume":"31","author":"Kitahara","year":"2018","journal-title":"EBioMedicine"},{"key":"ref_371","doi-asserted-by":"crossref","first-page":"4001","DOI":"10.1242\/dev.065003","article-title":"Loss of MAP3K1 enhances proliferation and apoptosis during retinal development","volume":"138","author":"Mongan","year":"2011","journal-title":"Development"},{"key":"ref_372","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1101\/gad.184481.111","article-title":"Endosomal sorting by Semaphorin 4A in retinal pigment epithelium supports photoreceptor survival","volume":"26","author":"Toyofuku","year":"2012","journal-title":"Genes Dev."},{"key":"ref_373","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1002\/cne.901880205","article-title":"Rods and cones in the mouse retina. II. Autoradiographic analysis of cell generation using tritiated thymidine","volume":"188","author":"LaVail","year":"1979","journal-title":"J. Comp. Neurol."},{"key":"ref_374","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1038\/nrn2880","article-title":"Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retina","volume":"11","author":"Swaroop","year":"2010","journal-title":"Nat. Rev. Neurosci."},{"key":"ref_375","doi-asserted-by":"crossref","first-page":"3263","DOI":"10.1242\/dev.127043","article-title":"Photoreceptor cell fate specification in vertebrates","volume":"142","author":"Brzezinski","year":"2015","journal-title":"Development"},{"key":"ref_376","doi-asserted-by":"crossref","first-page":"5210","DOI":"10.1038\/sj.onc.1209612","article-title":"RB, the conductor that orchestrates life, death and differentiation","volume":"25","author":"Khidr","year":"2006","journal-title":"Oncogene"},{"key":"ref_377","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1172\/JCI72722","article-title":"OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness","volume":"124","author":"Roger","year":"2014","journal-title":"J. Clin. Investig."},{"key":"ref_378","doi-asserted-by":"crossref","unstructured":"Tran, N.M., Zhang, A., Zhang, X., Huecker, J.B., Hennig, A.K., and Chen, S. (2014). Mechanistically distinct mouse models for CRX-associated retinopathy. PLoS Genet., 10.","DOI":"10.1371\/journal.pgen.1004111"},{"key":"ref_379","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1111\/gtc.12233","article-title":"Mef2d is essential for the maturation and integrity of retinal photoreceptor and bipolar cells","volume":"20","author":"Omori","year":"2015","journal-title":"Genes Cells"},{"key":"ref_380","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1186\/s13024-018-0287-z","article-title":"Essential roles of mitochondrial biogenesis regulator Nrf1 in retinal development and homeostasis","volume":"13","author":"Kiyama","year":"2018","journal-title":"Mol. Neurodegener."},{"key":"ref_381","doi-asserted-by":"crossref","first-page":"13053","DOI":"10.1523\/JNEUROSCI.0116-13.2013","article-title":"Onecut1 is essential for horizontal cell genesis and retinal integrity","volume":"33","author":"Wu","year":"2013","journal-title":"J. Neurosci."},{"key":"ref_382","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1101\/gad.324657.119","article-title":"MITF-the first 25 years","volume":"33","author":"Goding","year":"2019","journal-title":"Genes Dev."},{"key":"ref_383","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1016\/j.tig.2018.01.002","article-title":"RNA Biology in Retinal Development and Disease","volume":"34","author":"Zelinger","year":"2018","journal-title":"Trends Genet."},{"key":"ref_384","first-page":"1571","article-title":"Loss of Bmi1 causes anomalies in retinal development and degeneration of cone photoreceptors","volume":"143","author":"Barabino","year":"2016","journal-title":"Development"},{"key":"ref_385","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/j.exer.2008.06.019","article-title":"Musashi-1, an RNA-binding protein, is indispensable for survival of photoreceptors","volume":"88","author":"Susaki","year":"2009","journal-title":"Exp. Eye Res."},{"key":"ref_386","doi-asserted-by":"crossref","first-page":"1523","DOI":"10.1038\/nn.3537","article-title":"Maintaining genome stability in the nervous system","volume":"16","author":"McKinnon","year":"2013","journal-title":"Nat. Neurosci."},{"key":"ref_387","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/j.tibs.2018.02.010","article-title":"The Cellular Response to Transcription-Blocking DNA Damage","volume":"43","author":"Gregersen","year":"2018","journal-title":"Trends Biochem. Sci."},{"key":"ref_388","doi-asserted-by":"crossref","first-page":"766","DOI":"10.1038\/s41580-019-0169-4","article-title":"The DNA damage response to transcription stress","volume":"20","author":"Lans","year":"2019","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"ref_389","doi-asserted-by":"crossref","first-page":"11243","DOI":"10.1073\/pnas.1610735113","article-title":"BMI1-UBR5 axis regulates transcriptional repression at damaged chromatin","volume":"113","author":"Sanchez","year":"2016","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_390","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/j.celrep.2017.03.021","article-title":"DGCR8 Mediates Repair of UV-Induced DNA Damage Independently of RNA Processing","volume":"19","author":"Calses","year":"2017","journal-title":"Cell Rep."},{"key":"ref_391","doi-asserted-by":"crossref","first-page":"2373","DOI":"10.1083\/jcb.201612131","article-title":"Nuclear phosphorylated Dicer processes double-stranded RNA in response to DNA damage","volume":"216","author":"Burger","year":"2017","journal-title":"J. Cell Biol."},{"key":"ref_392","doi-asserted-by":"crossref","first-page":"5460","DOI":"10.1038\/s41467-019-13394-w","article-title":"Alkyladenine DNA glycosylase associates with transcription elongation to coordinate DNA repair with gene expression","volume":"10","author":"Montaldo","year":"2019","journal-title":"Nat. Commun."},{"key":"ref_393","doi-asserted-by":"crossref","unstructured":"Faridounnia, M., Folkers, G.E., and Boelens, R. (2018). Function and Interactions of ERCC1-XPF in DNA Damage Response. Molecules, 23.","DOI":"10.3390\/molecules23123205"},{"key":"ref_394","doi-asserted-by":"crossref","first-page":"2271","DOI":"10.1016\/j.ajpath.2016.05.020","article-title":"Musashi1 Impacts Radio-Resistance in Glioblastoma by Controlling DNA-Protein Kinase Catalytic Subunit","volume":"186","author":"Gorthi","year":"2016","journal-title":"Am. J. Pathol."},{"key":"ref_395","doi-asserted-by":"crossref","unstructured":"Onn, L., Portillo, M., Ilic, S., Cleitman, G., Stein, D., Kaluski, S., Shirat, I., Slobodnik, Z., Einav, M., and Erdel, F. (2020). SIRT6 is a DNA double-strand break sensor. Elife, 9.","DOI":"10.7554\/eLife.51636"},{"key":"ref_396","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1080\/21541264.2016.1181142","article-title":"A critical role for topoisomerase IIb and DNA double strand breaks in transcription","volume":"7","author":"Calderwood","year":"2016","journal-title":"Transcription"},{"key":"ref_397","doi-asserted-by":"crossref","first-page":"1046.e1045","DOI":"10.1016\/j.molcel.2018.02.016","article-title":"Protein Dynamics in Complex DNA Lesions","volume":"69","author":"Aleksandrov","year":"2018","journal-title":"Mol. Cell"},{"key":"ref_398","doi-asserted-by":"crossref","first-page":"17891","DOI":"10.1038\/s41598-018-36235-0","article-title":"The deubiquitylating enzyme UCHL3 regulates Ku80 retention at sites of DNA damage","volume":"8","author":"Nishi","year":"2018","journal-title":"Sci. Rep."},{"key":"ref_399","doi-asserted-by":"crossref","first-page":"10697","DOI":"10.1073\/pnas.1502597112","article-title":"Dimerization of elongator protein 1 is essential for Elongator complex assembly","volume":"112","author":"Xu","year":"2015","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_400","doi-asserted-by":"crossref","first-page":"1951","DOI":"10.1002\/jnr.24037","article-title":"Top2b is involved in the formation of outer segment and synapse during late-stage photoreceptor differentiation by controlling key genes of photoreceptor transcriptional regulatory network","volume":"95","author":"Li","year":"2017","journal-title":"J. Neurosci. Res."},{"key":"ref_401","doi-asserted-by":"crossref","first-page":"1507","DOI":"10.1093\/hmg\/dds563","article-title":"ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice","volume":"22","author":"Massalini","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"ref_402","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1038\/s41467-019-08530-5","article-title":"NADP(+) is an endogenous PARP inhibitor in DNA damage response and tumor suppression","volume":"10","author":"Bian","year":"2019","journal-title":"Nat. Commun."},{"key":"ref_403","doi-asserted-by":"crossref","first-page":"3366","DOI":"10.1074\/jbc.M116.770024","article-title":"MicroRNA-processing Enzymes Are Essential for Survival and Function of Mature Retinal Pigmented Epithelial Cells in Mice","volume":"292","author":"Sundermeier","year":"2017","journal-title":"J. Biol. Chem."},{"key":"ref_404","doi-asserted-by":"crossref","first-page":"4878","DOI":"10.1523\/JNEUROSCI.0828-08.2008","article-title":"Dicer inactivation leads to progressive functional and structural degeneration of the mouse retina","volume":"28","author":"Damiani","year":"2008","journal-title":"J. Neurosci."},{"key":"ref_405","doi-asserted-by":"crossref","unstructured":"Ueki, Y., Ramirez, G., Salcedo, E., Stabio, M.E., and Lefcort, F. (2016). Loss of Ikbkap Causes Slow, Progressive Retinal Degeneration in a Mouse Model of Familial Dysautonomia. eNeuro, 3.","DOI":"10.1523\/ENEURO.0143-16.2016"},{"key":"ref_406","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.mad.2011.12.003","article-title":"Accelerated loss of hearing and vision in the DNA-repair deficient Ercc1(delta\/-) mouse","volume":"133","author":"Spoor","year":"2012","journal-title":"Mech. Ageing Dev."},{"key":"ref_407","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.1128\/MCB.01037-06","article-title":"Retinal degeneration and ionizing radiation hypersensitivity in a mouse model for Cockayne syndrome","volume":"27","author":"Gorgels","year":"2007","journal-title":"Mol. Cell Biol."},{"key":"ref_408","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1016\/j.exer.2018.04.010","article-title":"NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype","volume":"173","author":"Eblimit","year":"2018","journal-title":"Exp. Eye Res."},{"key":"ref_409","doi-asserted-by":"crossref","unstructured":"Peshti, V., Obolensky, A., Nahum, L., Kanfi, Y., Rathaus, M., Avraham, M., Tinman, S., Alt, F.W., Banin, E., and Cohen, H.Y. (2017). Characterization of physiological defects in adult SIRT6-\/- mice. PLoS ONE, 12.","DOI":"10.1371\/journal.pone.0176371"},{"key":"ref_410","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.bbrc.2019.03.164","article-title":"Disruption of the polyubiquitin gene Ubb causes retinal degeneration in mice","volume":"513","author":"Lim","year":"2019","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_411","doi-asserted-by":"crossref","first-page":"1301","DOI":"10.1093\/hmg\/ddg140","article-title":"An engineered 800 kilobase deletion of Uchl3 and Lmo7 on mouse chromosome 14 causes defects in viability, postnatal growth and degeneration of muscle and retina","volume":"12","author":"Semenova","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"ref_412","doi-asserted-by":"crossref","first-page":"5773","DOI":"10.1093\/nar\/gkw486","article-title":"An atlas of gene expression and gene co-regulation in the human retina","volume":"44","author":"Pinelli","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"ref_413","doi-asserted-by":"crossref","first-page":"763.e764","DOI":"10.1016\/j.devcel.2017.10.029","article-title":"Molecular Anatomy of the Developing Human Retina","volume":"43","author":"Hoshino","year":"2017","journal-title":"Dev. Cell"},{"key":"ref_414","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1167\/iovs.10-5194","article-title":"Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration","volume":"52","author":"Graziotto","year":"2011","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_415","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1016\/j.ajhg.2017.02.008","article-title":"Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies","volume":"100","author":"Xu","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"ref_416","doi-asserted-by":"crossref","first-page":"3923","DOI":"10.3892\/mmr.2017.6529","article-title":"Post-translational modifications and their applications in eye research (Review)","volume":"15","author":"Chen","year":"2017","journal-title":"Mol. Med. Rep."},{"key":"ref_417","doi-asserted-by":"crossref","first-page":"8862","DOI":"10.1073\/pnas.1103627108","article-title":"RAS-converting enzyme 1-mediated endoproteolysis is required for trafficking of rod phosphodiesterase 6 to photoreceptor outer segments","volume":"108","author":"Christiansen","year":"2011","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_418","doi-asserted-by":"crossref","first-page":"5107","DOI":"10.1523\/JNEUROSCI.0176-16.2016","article-title":"Deficiency of Isoprenylcysteine Carboxyl Methyltransferase (ICMT) Leads to Progressive Loss of Photoreceptor Function","volume":"36","author":"Christiansen","year":"2016","journal-title":"J. Neurosci."},{"key":"ref_419","doi-asserted-by":"crossref","first-page":"938","DOI":"10.1242\/jcs.199091","article-title":"Alterations in the balance of tubulin glycylation and glutamylation in photoreceptors leads to retinal degeneration","volume":"130","author":"Masson","year":"2017","journal-title":"J. Cell Sci."},{"key":"ref_420","doi-asserted-by":"crossref","first-page":"E2925","DOI":"10.1073\/pnas.1523201113","article-title":"Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations","volume":"113","author":"Sun","year":"2016","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_421","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1016\/0014-4835(92)90019-O","article-title":"Retinal degeneration in the pcd\/pcd mutant mouse: Accumulation of spherules in the interphotoreceptor space","volume":"54","author":"Blanks","year":"1992","journal-title":"Exp. Eye Res."},{"key":"ref_422","doi-asserted-by":"crossref","unstructured":"Chen, J., Qian, H., Horai, R., Chan, C.C., Falick, Y., and Caspi, R.R. (2013). Comparative analysis of induced vs. spontaneous models of autoimmune uveitis targeting the interphotoreceptor retinoid binding protein. PLoS ONE, 8.","DOI":"10.1371\/journal.pone.0072161"},{"key":"ref_423","doi-asserted-by":"crossref","first-page":"7684","DOI":"10.1167\/iovs.12-10069","article-title":"A novel role of complement in retinal degeneration","volume":"53","author":"Yu","year":"2012","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_424","doi-asserted-by":"crossref","first-page":"2088","DOI":"10.1016\/j.ajpath.2016.03.021","article-title":"The Complement Regulatory Protein CD46 Deficient Mouse Spontaneously Develops Dry-Type Age-Related Macular Degeneration-Like Phenotype","volume":"186","author":"Lyzogubov","year":"2016","journal-title":"Am. J. Pathol."},{"key":"ref_425","doi-asserted-by":"crossref","first-page":"4708","DOI":"10.1523\/JNEUROSCI.2368-17.2018","article-title":"The Role of the Microglial Cx3cr1 Pathway in the Postnatal Maturation of Retinal Photoreceptors","volume":"38","author":"Jobling","year":"2018","journal-title":"J. Neurosci."},{"key":"ref_426","doi-asserted-by":"crossref","first-page":"2920","DOI":"10.1172\/JCI31692","article-title":"CX3CR1-dependent subretinal microglia cell accumulation is associated with cardinal features of age-related macular degeneration","volume":"117","author":"Combadiere","year":"2007","journal-title":"J. Clin. Investig."},{"key":"ref_427","doi-asserted-by":"crossref","unstructured":"Huang, H., Liu, Y., Wang, L., and Li, W. (2017). Age-related macular degeneration phenotypes are associated with increased tumor necrosis-alpha and subretinal immune cells in aged Cxcr5 knockout mice. PLoS ONE, 12.","DOI":"10.1371\/journal.pone.0173716"},{"key":"ref_428","doi-asserted-by":"crossref","first-page":"272","DOI":"10.3389\/fncel.2019.00272","article-title":"Interferon Regulatory Factor 3 Deficiency Induces Age-Related Alterations of the Retina in Young and Old Mice","volume":"13","author":"Zhang","year":"2019","journal-title":"Front. Cell Neurosci."},{"key":"ref_429","doi-asserted-by":"crossref","first-page":"5376","DOI":"10.1167\/iovs.13-12497","article-title":"IGFBP-3 and TNF-alpha regulate retinal endothelial cell apoptosis","volume":"54","author":"Zhang","year":"2013","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_430","doi-asserted-by":"crossref","first-page":"1390","DOI":"10.1038\/nm950","article-title":"An animal model of age-related macular degeneration in senescent Ccl-2- or Ccr-2-deficient mice","volume":"9","author":"Ambati","year":"2003","journal-title":"Nat. Med."},{"key":"ref_431","doi-asserted-by":"crossref","first-page":"16651","DOI":"10.1073\/pnas.0705079104","article-title":"Complement factor H deficiency in aged mice causes retinal abnormalities and visual dysfunction","volume":"104","author":"Coffey","year":"2007","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_432","doi-asserted-by":"crossref","first-page":"1184","DOI":"10.1182\/blood-2016-07-728253","article-title":"Murine systemic thrombophilia and hemolytic uremic syndrome from a factor H point mutation","volume":"129","author":"Ueda","year":"2017","journal-title":"Blood"},{"key":"ref_433","doi-asserted-by":"crossref","unstructured":"Ma, W., Silverman, S.M., Zhao, L., Villasmil, R., Campos, M.M., Amaral, J., and Wong, W.T. (2019). Absence of TGFbeta signaling in retinal microglia induces retinal degeneration and exacerbates choroidal neovascularization. Elife, 8.","DOI":"10.7554\/eLife.42049"},{"key":"ref_434","doi-asserted-by":"crossref","first-page":"2563","DOI":"10.1093\/hmg\/ddy165","article-title":"A splicing mutation in aryl hydrocarbon receptor associated with retinitis pigmentosa","volume":"27","author":"Zhou","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"ref_435","doi-asserted-by":"crossref","unstructured":"Swiderski, R.E., Nakano, Y., Mullins, R.F., Seo, S., and Banfi, B. (2014). A mutation in the mouse ttc26 gene leads to impaired hedgehog signaling. PLoS Genet., 10.","DOI":"10.1371\/journal.pgen.1004689"},{"key":"ref_436","doi-asserted-by":"crossref","first-page":"E8264","DOI":"10.1073\/pnas.1707021114","article-title":"Samd7 is a cell type-specific PRC1 component essential for establishing retinal rod photoreceptor identity","volume":"114","author":"Omori","year":"2017","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_437","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.isci.2018.05.001","article-title":"A Small Chaperone Improves Folding and Routing of Rhodopsin Mutants Linked to Inherited Blindness","volume":"4","author":"Behnen","year":"2018","journal-title":"iScience"},{"key":"ref_438","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1111\/febs.14522","article-title":"ER stress and unfolded protein response in ocular health and disease","volume":"286","author":"Kroeger","year":"2019","journal-title":"FEBS J."},{"key":"ref_439","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/j.preteyeres.2015.12.002","article-title":"PRPH2\/RDS and ROM-1: Historical context, current views and future considerations","volume":"52","author":"Stuck","year":"2016","journal-title":"Prog. Retin. Eye Res."},{"key":"ref_440","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1016\/j.preteyeres.2008.01.002","article-title":"The spectrum of retinal dystrophies caused by mutations in the peripherin\/RDS gene","volume":"27","author":"Boon","year":"2008","journal-title":"Prog. Retin. Eye Res."},{"key":"ref_441","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1111\/cge.12181","article-title":"Alternative splicing and retinal degeneration","volume":"84","author":"Liu","year":"2013","journal-title":"Clin. Genet."},{"key":"ref_442","doi-asserted-by":"crossref","first-page":"3965","DOI":"10.1073\/pnas.0637349100","article-title":"The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: Subserving RPGR function and participating in disk morphogenesis","volume":"100","author":"Zhao","year":"2003","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_443","doi-asserted-by":"crossref","first-page":"4329","DOI":"10.1093\/hmg\/ddp385","article-title":"RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis","volume":"18","author":"Won","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"ref_444","doi-asserted-by":"crossref","first-page":"R79","DOI":"10.1093\/hmg\/ddy120","article-title":"Development and application of CRISPR\/Cas9 technologies in genomic editing","volume":"27","author":"Zhang","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"ref_445","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1007\/978-3-030-27378-1_51","article-title":"Differential Contribution of Calcium-Activated Proteases and ER-Stress in Three Mouse Models of Retinitis Pigmentosa Expressing P23H Mutant RHO","volume":"1185","author":"Comitato","year":"2019","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_446","doi-asserted-by":"crossref","first-page":"13850","DOI":"10.1073\/pnas.0405146101","article-title":"Disruption of ceruloplasmin and hephaestin in mice causes retinal iron overload and retinal degeneration with features of age-related macular degeneration","volume":"101","author":"Hahn","year":"2004","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_447","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/j.jneuroim.2004.04.018","article-title":"Innate immunity in the retina: Toll-like receptor (TLR) signaling in human retinal pigment epithelial cells","volume":"153","author":"Kumar","year":"2004","journal-title":"J. Neuroimmunol."},{"key":"ref_448","doi-asserted-by":"crossref","first-page":"15543","DOI":"10.1074\/jbc.M111.228551","article-title":"Toll-like receptor 3 is required for development of retinopathy caused by impaired all-trans-retinal clearance in mice","volume":"286","author":"Shiose","year":"2011","journal-title":"J. Biol. Chem."},{"key":"ref_449","doi-asserted-by":"crossref","unstructured":"Vollrath, D., Yasumura, D., Benchorin, G., Matthes, M.T., Feng, W., Nguyen, N.M., Sedano, C.D., Calton, M.A., and LaVail, M.M. (2015). Tyro3 Modulates Mertk-Associated Retinal Degeneration. PLoS Genet., 11.","DOI":"10.1371\/journal.pgen.1005723"},{"key":"ref_450","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1093\/hmg\/ddt394","article-title":"BBS mutations modify phenotypic expression of CEP290-related ciliopathies","volume":"23","author":"Zhang","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"ref_451","doi-asserted-by":"crossref","first-page":"1233","DOI":"10.1172\/JCI60981","article-title":"Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis","volume":"122","author":"Rachel","year":"2012","journal-title":"J. Clin. Investig."},{"key":"ref_452","doi-asserted-by":"crossref","first-page":"2005","DOI":"10.1093\/hmg\/ddw075","article-title":"Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR","volume":"25","author":"Rao","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"ref_453","doi-asserted-by":"crossref","first-page":"1165","DOI":"10.1093\/hmg\/ddv639","article-title":"Loss of HCN1 enhances disease progression in mouse models of CNG channel-linked retinitis pigmentosa and achromatopsia","volume":"25","author":"Schon","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"ref_454","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1093\/hmg\/ddy337","article-title":"Loss of CRB2 in Muller glial cells modifies a CRB1-associated retinitis pigmentosa phenotype into a Leber congenital amaurosis phenotype","volume":"28","author":"Quinn","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"ref_455","doi-asserted-by":"crossref","first-page":"1999","DOI":"10.1210\/en.2017-00055","article-title":"Deletion of the Thyroid Hormone-Activating Type 2 Deiodinase Rescues Cone Photoreceptor Degeneration but Not Deafness in Mice Lacking Type 3 Deiodinase","volume":"158","author":"Ng","year":"2017","journal-title":"Endocrinology"},{"key":"ref_456","doi-asserted-by":"crossref","unstructured":"van der Pluijm, I., Garinis, G.A., Brandt, R.M., Gorgels, T.G., Wijnhoven, S.W., Diderich, K.E., de Wit, J., Mitchell, J.R., van Oostrom, C., and Beems, R. (2007). Impaired genome maintenance suppresses the growth hormone--insulin-like growth factor 1 axis in mice with Cockayne syndrome. PLoS Biol., 5.","DOI":"10.1371\/journal.pbio.0050002"},{"key":"ref_457","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1017\/S095252380623102X","article-title":"The nob2 mouse, a null mutation in Cacna1f: Anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses","volume":"23","author":"Chang","year":"2006","journal-title":"Vis. Neurosci."},{"key":"ref_458","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1017\/S0952523801183100","article-title":"Comparative structural and functional analysis of photoreceptor neurons of Rho-\/- mice reveal increased survival on C57BL\/6J in comparison to 129Sv genetic background","volume":"18","author":"Humphries","year":"2001","journal-title":"Vis. Neurosci."},{"key":"ref_459","doi-asserted-by":"crossref","first-page":"1566","DOI":"10.1167\/iovs.08-2776","article-title":"The severity of retinal degeneration in Rp1h gene-targeted mice is dependent on genetic background","volume":"50","author":"Liu","year":"2009","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_460","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1007\/s00335-008-9092-2","article-title":"Mapping of genetic modifiers of Nr2e3 rd7\/rd7 that suppress retinal degeneration and restore blue cone cells to normal quantity","volume":"19","author":"Haider","year":"2008","journal-title":"Mamm. Genome"},{"key":"ref_461","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1093\/ilar.52.1.24","article-title":"The collaborative cross: A recombinant inbred mouse population for the systems genetic era","volume":"52","author":"Threadgill","year":"2011","journal-title":"ILAR J."},{"key":"ref_462","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1007\/s00335-012-9414-2","article-title":"The Diversity Outbred mouse population","volume":"23","author":"Churchill","year":"2012","journal-title":"Mamm. Genome"},{"key":"ref_463","doi-asserted-by":"crossref","unstructured":"Cruz, N.M., Yuan, Y., Leehy, B.D., Baid, R., Kompella, U., DeAngelis, M.M., Escher, P., and Haider, N.B. (2014). Modifier genes as therapeutics: The nuclear hormone receptor Rev Erb alpha (Nr1d1) rescues Nr2e3 associated retinal disease. PLoS ONE, 9.","DOI":"10.1371\/journal.pone.0087942"},{"key":"ref_464","doi-asserted-by":"crossref","first-page":"2863","DOI":"10.1167\/iovs.08-1715","article-title":"Genetic modifiers of retinal degeneration in the rd3 mouse","volume":"49","author":"Danciger","year":"2008","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_465","first-page":"811","article-title":"Variable phenotypic expressivity in inbred retinal degeneration mouse lines: A comparative study of C3H\/HeOu and FVB\/N rd1 mice","volume":"21","author":"Schneider","year":"2015","journal-title":"Mol. Vis."},{"key":"ref_466","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1093\/hmg\/ddu424","article-title":"The severity of retinal pathology in homozygous Crb1rd8\/rd8 mice is dependent on additional genetic factors","volume":"24","author":"Luhmann","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_467","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1016\/j.exer.2013.10.020","article-title":"Genetic modifier loci of mouse Mfrp(rd6) identified by quantitative trait locus analysis","volume":"118","author":"Won","year":"2014","journal-title":"Exp. Eye Res."},{"key":"ref_468","doi-asserted-by":"crossref","first-page":"1663","DOI":"10.1167\/iovs.11-8871","article-title":"An allele of microtubule-associated protein 1A (Mtap1a) reduces photoreceptor degeneration in Tulp1 and Tub Mutant Mice","volume":"53","author":"Maddox","year":"2012","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_469","doi-asserted-by":"crossref","first-page":"3340","DOI":"10.1093\/hmg\/ddy238","article-title":"An FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency","volume":"27","author":"Kong","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"ref_470","doi-asserted-by":"crossref","first-page":"1060","DOI":"10.1136\/bjo.2006.097436","article-title":"Light and inherited retinal degeneration","volume":"90","author":"Paskowitz","year":"2006","journal-title":"Br. J. Ophthalmol."},{"key":"ref_471","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1167\/iovs.14-15479","article-title":"Genetic background and light-dependent progression of photoreceptor cell degeneration in Prominin-1 knockout mice","volume":"56","author":"Dellett","year":"2014","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_472","first-page":"775","article-title":"Light-induced acceleration of photoreceptor degeneration in transgenic mice expressing mutant rhodopsin","volume":"37","author":"Naash","year":"1996","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_473","doi-asserted-by":"crossref","first-page":"2091","DOI":"10.1016\/j.visres.2004.03.027","article-title":"Light deprivation slows but does not prevent the loss of photoreceptors in taurine transporter knockout mice","volume":"44","author":"Rascher","year":"2004","journal-title":"Vis. Res."},{"key":"ref_474","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1006\/exer.1994.1196","article-title":"Effects of dark-rearing on the retinal degeneration of the C57BL\/6-mivit\/mivit mouse","volume":"58","author":"Smith","year":"1994","journal-title":"Exp. Eye Res."},{"key":"ref_475","doi-asserted-by":"crossref","first-page":"37697","DOI":"10.1074\/jbc.M608375200","article-title":"Retinol dehydrogenase (RDH12) protects photoreceptors from light-induced degeneration in mice","volume":"281","author":"Maeda","year":"2006","journal-title":"J. Biol. Chem."},{"key":"ref_476","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1523\/JNEUROSCI.4698-03.2004","article-title":"Acid-sensing ion channel 2 is important for retinal function and protects against light-induced retinal degeneration","volume":"24","author":"Ettaiche","year":"2004","journal-title":"J. Neurosci."},{"key":"ref_477","doi-asserted-by":"crossref","first-page":"6421","DOI":"10.1167\/iovs.10-6557","article-title":"Moderate light-induced degeneration of rod photoreceptors with delayed transducin translocation in shaker1 mice","volume":"52","author":"Peng","year":"2011","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_478","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/j.exer.2013.10.021","article-title":"Photoreceptors in whirler mice show defective transducin translocation and are susceptible to short-term light\/dark changes-induced degeneration","volume":"118","author":"Tian","year":"2014","journal-title":"Exp. Eye Res."},{"key":"ref_479","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1523\/JNEUROSCI.0445-06.2007","article-title":"Nonredundant role of Akt2 for neuroprotection of rod photoreceptor cells from light-induced cell death","volume":"27","author":"Li","year":"2007","journal-title":"J. Neurosci."},{"key":"ref_480","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/j.preteyeres.2017.03.002","article-title":"The impact of oxidative stress and inflammation on RPE degeneration in non-neovascular AMD","volume":"60","author":"Datta","year":"2017","journal-title":"Prog. Retin. Eye Res."},{"key":"ref_481","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1136\/bjo.2005.073643","article-title":"Smoking and age related macular degeneration: The number of pack years of cigarette smoking is a major determinant of risk for both geographic atrophy and choroidal neovascularisation","volume":"90","author":"Khan","year":"2006","journal-title":"Br. J. Ophthalmol."},{"key":"ref_482","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1016\/j.visres.2009.08.018","article-title":"Cigarette smoking, oxidative stress, the anti-oxidant response through Nrf2 signaling, and Age-related Macular Degeneration","volume":"50","author":"Cano","year":"2010","journal-title":"Vis. Res."},{"key":"ref_483","doi-asserted-by":"crossref","unstructured":"Fujihara, M., Nagai, N., Sussan, T.E., Biswal, S., and Handa, J.T. (2008). Chronic cigarette smoke causes oxidative damage and apoptosis to retinal pigmented epithelial cells in mice. PLoS ONE, 3.","DOI":"10.1371\/journal.pone.0003119"},{"key":"ref_484","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1089\/ars.2017.7084","article-title":"Oxidative Stress Induces an Interactive Decline in Wnt and Nrf2 Signaling in Degenerating Retinal Pigment Epithelium","volume":"29","author":"Ebrahimi","year":"2018","journal-title":"Antioxid. Redox Signal."},{"key":"ref_485","doi-asserted-by":"crossref","first-page":"6393","DOI":"10.1073\/pnas.93.13.6393","article-title":"Phenotypic analysis of mice expressing exclusively apolipoprotein B48 or apolipoprotein B100","volume":"93","author":"Farese","year":"1996","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_486","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1167\/IOVS.07-0227","article-title":"Ultrastructural changes in a murine model of graded Bruch membrane lipoidal degeneration and corresponding VEGF164 detection","volume":"49","author":"Rudolf","year":"2008","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_487","doi-asserted-by":"crossref","first-page":"11900","DOI":"10.1073\/pnas.0503015102","article-title":"Apolipoprotein E allele-dependent pathogenesis: A model for age-related retinal degeneration","volume":"102","author":"Malek","year":"2005","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_488","doi-asserted-by":"crossref","first-page":"2646","DOI":"10.3390\/nu5072646","article-title":"Vitamin A derivatives as treatment options for retinal degenerative diseases","volume":"5","author":"Perusek","year":"2013","journal-title":"Nutrients"},{"key":"ref_489","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1007\/978-1-4939-2330-4_22","article-title":"Supplementation with vitamin a derivatives to rescue vision in animal models of degenerative retinal diseases","volume":"1271","author":"Perusek","year":"2015","journal-title":"Methods Mol. Biol."},{"key":"ref_490","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.preteyeres.2015.06.005","article-title":"Pharmacological approaches to retinitis pigmentosa: A laboratory perspective","volume":"48","author":"Guadagni","year":"2015","journal-title":"Prog. Retin. Eye Res."},{"key":"ref_491","doi-asserted-by":"crossref","first-page":"1976","DOI":"10.2741\/4033","article-title":"Oxidative stress: The achilles\u2019 heel of neurodegenerative diseases of the retina","volume":"17","author":"Cai","year":"2012","journal-title":"Front. Biosci. Landmark. Ed."},{"key":"ref_492","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1002\/jcp.21152","article-title":"Antioxidants slow photoreceptor cell death in mouse models of retinitis pigmentosa","volume":"213","author":"Komeima","year":"2007","journal-title":"J. Cell Physiol."},{"key":"ref_493","doi-asserted-by":"crossref","first-page":"1863","DOI":"10.1111\/j.1471-4159.2009.06286.x","article-title":"Docosahexaenoic acid attenuates microglial activation and delays early retinal degeneration","volume":"110","author":"Ebert","year":"2009","journal-title":"J. Neurochem."},{"key":"ref_494","doi-asserted-by":"crossref","first-page":"4374087","DOI":"10.1155\/2018\/4374087","article-title":"Lutein and Zeaxanthin Isomers Reduce Photoreceptor Degeneration in the Pde6b (rd10) Mouse Model of Retinitis Pigmentosa","volume":"2018","author":"Yu","year":"2018","journal-title":"Biomed. Res. Int."},{"key":"ref_495","doi-asserted-by":"crossref","first-page":"11300","DOI":"10.1073\/pnas.0604056103","article-title":"Antioxidants reduce cone cell death in a model of retinitis pigmentosa","volume":"103","author":"Komeima","year":"2006","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_496","doi-asserted-by":"crossref","unstructured":"Barone, I., Novelli, E., Piano, I., Gargini, C., and Strettoi, E. (2012). Environmental enrichment extends photoreceptor survival and visual function in a mouse model of retinitis pigmentosa. PLoS ONE, 7.","DOI":"10.1371\/journal.pone.0050726"},{"key":"ref_497","doi-asserted-by":"crossref","first-page":"9553","DOI":"10.1073\/pnas.0501451102","article-title":"Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein","volume":"102","author":"Sundin","year":"2005","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_498","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1080\/13816810500374359","article-title":"The mouse\u2019s eye and Mfrp: Not quite human","volume":"26","author":"Sundin","year":"2005","journal-title":"Ophthalmic Genet."},{"key":"ref_499","doi-asserted-by":"crossref","first-page":"1879","DOI":"10.1093\/hmg\/11.16.1879","article-title":"Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6","volume":"11","author":"Kameya","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"ref_500","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1038\/s41598-019-57338-2","article-title":"The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56","volume":"10","author":"Almoallem","year":"2020","journal-title":"Sci. Rep."},{"key":"ref_501","doi-asserted-by":"crossref","first-page":"632","DOI":"10.1089\/hum.2018.192","article-title":"Long-Term Effects of Gene Therapy in a Novel Mouse Model of Human MFRP-Associated Retinopathy","volume":"30","author":"Chekuri","year":"2019","journal-title":"Hum. Gene Ther."},{"key":"ref_502","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1038\/374062a0","article-title":"A type VII myosin encoded by the mouse deafness gene shaker-1","volume":"374","author":"Gibson","year":"1995","journal-title":"Nature"},{"key":"ref_503","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1002\/dneu.20771","article-title":"Deafness and retinal degeneration in a novel USH1C knock-in mouse model","volume":"70","author":"Lentz","year":"2010","journal-title":"Dev. Neurobiol."},{"key":"ref_504","doi-asserted-by":"crossref","first-page":"4164","DOI":"10.1073\/pnas.0407698102","article-title":"Lipofuscin accumulation, abnormal electrophysiology, and photoreceptor degeneration in mutant ELOVL4 transgenic mice: A model for macular degeneration","volume":"102","author":"Karan","year":"2005","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_505","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.ajpath.2015.09.017","article-title":"Retinal Dystrophy and Optic Nerve Pathology in the Mouse Model of Mucolipidosis IV","volume":"186","author":"Grishchuk","year":"2016","journal-title":"Am. J. Pathol."},{"key":"ref_506","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1542\/peds.79.6.953","article-title":"Mucolipidosis type IV: Clinical spectrum and natural history","volume":"79","author":"Amir","year":"1987","journal-title":"Pediatrics"},{"key":"ref_507","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1097\/OPX.0b013e31824529e5","article-title":"Assessment of axial length measurements in mouse eyes","volume":"89","author":"Park","year":"2012","journal-title":"Optom. Vis. Sci."},{"key":"ref_508","doi-asserted-by":"crossref","first-page":"1793","DOI":"10.1091\/mbc.e13-10-0599","article-title":"The Ca2+-activated Cl- channel ANO1\/TMEM16A regulates primary ciliogenesis","volume":"25","author":"Ruppersburg","year":"2014","journal-title":"Mol. Biol. Cell"},{"key":"ref_509","doi-asserted-by":"crossref","first-page":"E11161","DOI":"10.1073\/pnas.1714448115","article-title":"Cytoplasmic Cl(-) couples membrane remodeling to epithelial morphogenesis","volume":"114","author":"He","year":"2017","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_510","doi-asserted-by":"crossref","unstructured":"Gupta, A., Fabian, L., and Brill, J.A. (2018). Phosphatidylinositol 4,5-bisphosphate regulates cilium transition zone maturation in Drosophila melanogaster. J. Cell Sci., 131.","DOI":"10.1242\/jcs.218297"},{"key":"ref_511","doi-asserted-by":"crossref","first-page":"1233","DOI":"10.12688\/f1000research.15579.1","article-title":"Formation of 53BP1 foci and ATM activation under oxidative stress is facilitated by RNA:DNA hybrids and loss of ATM-53BP1 expression promotes photoreceptor cell survival in mice","volume":"7","author":"Bhatia","year":"2018","journal-title":"F1000Res"},{"key":"ref_512","doi-asserted-by":"crossref","first-page":"286","DOI":"10.3389\/fnins.2018.00286","article-title":"Detection of DNA Double Strand Breaks by gammaH2AX Does Not Result in 53bp1 Recruitment in Mouse Retinal Tissues","volume":"12","author":"Muller","year":"2018","journal-title":"Front. Neurosci."}],"container-title":["Cells"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4409\/9\/4\/931\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T09:17:14Z","timestamp":1760174234000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4409\/9\/4\/931"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4,10]]},"references-count":512,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2020,4]]}},"alternative-id":["cells9040931"],"URL":"https:\/\/doi.org\/10.3390\/cells9040931","relation":{},"ISSN":["2073-4409"],"issn-type":[{"value":"2073-4409","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,4,10]]}}}