{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T07:20:35Z","timestamp":1778311235536,"version":"3.51.4"},"reference-count":56,"publisher":"Oxford University Press (OUP)","issue":"11","license":[{"start":{"date-parts":[[2020,1,30]],"date-time":"2020-01-30T00:00:00Z","timestamp":1580342400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100001116","name":"Foundation Fighting Blindness","doi-asserted-by":"publisher","award":["PPA-0517-0717-RAD"],"award-info":[{"award-number":["PPA-0517-0717-RAD"]}],"id":[{"id":"10.13039\/100001116","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Stichting Wetenschappelijk Onderzoek Doof-Blindheid"},{"name":"Stichting Klavertje2"},{"name":"Stichting Ushersyndroom"},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["205174\/Z\/16\/Z"],"award-info":[{"award-number":["205174\/Z\/16\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,7,21]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>USH2A variants are the most common cause of Usher syndrome type 2, characterized by congenital sensorineural hearing loss and retinitis pigmentosa (RP), and also contribute to autosomal recessive non-syndromic RP. Several treatment strategies are under development; however, sensitive clinical trial endpoint metrics to determine therapeutic efficacy have not been identified. In the present study, we have performed longitudinal retrospective examination of the retinal and auditory symptoms in (i) 56 biallelic molecularly confirmed USH2A patients and (ii) ush2a mutant zebrafish to identify metrics for the evaluation of future clinical trials and rapid preclinical screening studies. The patient cohort showed a statistically significant correlation between age and both rate of constriction for the ellipsoid zone length and hyperautofluorescent outer retinal ring area. Visual acuity and pure tone audiograms are not suitable outcome measures. Retinal examination of the novel ush2au507 zebrafish mutant revealed a slowly progressive degeneration of predominantly rods, accompanied by rhodopsin and blue cone opsin mislocalization from 6 to 12\u00a0months of age with lysosome-like structures observed in the photoreceptors. This was further evaluated in the ush2armc zebrafish model, which revealed similar changes in photopigment mislocalization with elevated autophagy levels at 6\u00a0days post fertilization, indicating a more severe genotype-phenotype correlation and providing evidence of new insights into the pathophysiology underlying USH2A-retinal disease.<\/jats:p>","DOI":"10.1093\/hmg\/ddaa004","type":"journal-article","created":{"date-parts":[[2020,1,28]],"date-time":"2020-01-28T20:54:44Z","timestamp":1580244884000},"page":"1882-1899","source":"Crossref","is-referenced-by-count":34,"title":["Clinical and preclinical therapeutic outcome metrics for USH2A-related disease"],"prefix":"10.1093","volume":"29","author":[{"given":"Maria","family":"Toms","sequence":"first","affiliation":[{"name":"UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adam M","family":"Dubis","sequence":"additional","affiliation":[{"name":"UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK"},{"name":"Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erik","family":"de Vrieze","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525 HR, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dhani","family":"Tracey-White","sequence":"additional","affiliation":[{"name":"UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Mitsios","sequence":"additional","affiliation":[{"name":"UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK"},{"name":"Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew","family":"Hayes","sequence":"additional","affiliation":[{"name":"UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanne","family":"Broekman","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525 HR, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Baxendale","sequence":"additional","affiliation":[{"name":"Bateson Centre and Department of Biomedical Science, University of Sheffield, Sheffield S10 2TN, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nattawan","family":"Utoomprurkporn","sequence":"additional","affiliation":[{"name":"UCL Ear Institute, University College London, London WC1X 8EE, UK"},{"name":"Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Doris","family":"Bamiou","sequence":"additional","affiliation":[{"name":"Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Bitner-Glindzicz","sequence":"additional","affiliation":[{"name":"Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew R","family":"Webster","sequence":"additional","affiliation":[{"name":"UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK"},{"name":"Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erwin","family":"Van Wijk","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525 HR, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariya","family":"Moosajee","sequence":"additional","affiliation":[{"name":"UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK"},{"name":"Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK"},{"name":"UCL Ear Institute, University College London, London WC1X 8EE, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2020,1,30]]},"reference":[{"key":"2020072105165009900_ref1","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1586\/17469899.2015.1033403","article-title":"Usher syndrome: a review of the clinical phenotype, genes and therapeutic strategies","volume":"10","author":"Toms","year":"2015","journal-title":"Expert Rev. Ophthalmol."},{"key":"2020072105165009900_ref2","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.exer.2005.11.010","article-title":"Molecular basis of human usher syndrome: deciphering the meshes of the usher protein network provides insights into the pathomechanisms of the usher disease","volume":"83","author":"Reiners","year":"2006","journal-title":"Exp. Eye Res."},{"key":"2020072105165009900_ref3","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1136\/jmg.2009.075143","article-title":"Novel mutations in the long isoform of the USH2A gene in patients with usher syndrome type II or non-syndromic retinitis pigmentosa","volume":"47","author":"McGee","year":"2010","journal-title":"J. Med. Genet."},{"key":"2020072105165009900_ref4","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1002\/humu.22608","article-title":"Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots","volume":"35","author":"Baux","year":"2014","journal-title":"Hum. Mutat."},{"key":"2020072105165009900_ref5","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1086\/321269","article-title":"A common ancestral origin of the frequent and widespread 2299delG USH2A mutation","volume":"69","author":"Dreyer","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"2020072105165009900_ref6","doi-asserted-by":"crossref","first-page":"1975","DOI":"10.1086\/302926","article-title":"Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss","volume":"66","author":"Rivolta","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"2020072105165009900_ref7","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1086\/383096","article-title":"Identification of 51 novel exons of the usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with usher syndrome type II","volume":"74","author":"van Wijk","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"2020072105165009900_ref8","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. U. S. A."},{"key":"2020072105165009900_ref9","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1093\/hmg\/ddm285","article-title":"A novel usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells","volume":"17","author":"Maerker","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"2020072105165009900_ref10","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.exer.2018.05.015","article-title":"Usherin defects lead to early-onset retinal dysfunction in zebrafish","volume":"173","author":"Dona","year":"2018","journal-title":"Exp. Eye Res."},{"key":"2020072105165009900_ref11","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1093\/hmg\/ddi490","volume":"15","author":"van Wijk","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"2020072105165009900_ref12","doi-asserted-by":"crossref","first-page":"3933","DOI":"10.1093\/hmg\/ddi417","article-title":"Scaffold protein harmonin (USH1C) provides molecular links between usher syndrome type 1 and type 2","volume":"14","author":"Reiners","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"2020072105165009900_ref13","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":"2020072105165009900_ref14","doi-asserted-by":"crossref","first-page":"3921","DOI":"10.1093\/hmg\/ddi416","article-title":"Usherin, the defective protein in usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells","volume":"14","author":"Adato","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"2020072105165009900_ref15","first-page":"6944","article-title":"Individual USH2 proteins make distinct contributions to the ankle link complex during development of the mouse cochlear stereociliary bundle","volume":"24","author":"Zou","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"2020072105165009900_ref16","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":"2014","journal-title":"Biochim. Biophys. Acta"},{"key":"2020072105165009900_ref17","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1007\/s00439-018-1936-6","article-title":"Knockout of ush2a gene in zebrafish causes hearing impairment and late onset rod-cone dystrophy","volume":"137","author":"Han","year":"2018","journal-title":"Hum. Genet."},{"key":"2020072105165009900_ref18","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1002\/mgg3.312","volume":"5","author":"Neuhaus","year":"2017","journal-title":"Mol. Genet. & Genomic Med."},{"key":"2020072105165009900_ref19","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1016\/j.omtn.2017.08.003","article-title":"USH2A gene editing using the CRISPR system","volume":"8","author":"Fuster-Garcia","year":"2017","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"2020072105165009900_ref20","first-page":"5","article-title":"Antisense oligonucleotide-based splice correction for USH2A-associated retinal degeneration caused by a frequent deep-intronic mutation","volume":"e381","author":"Slijkerman","year":"2016","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"2020072105165009900_ref21","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1089\/zeb.2018.1613","article-title":"Poor splice-site recognition in a humanized zebrafish knockin model for the recurrent deep-intronic c.7595-2144A&gt;G mutation in USH2A","volume":"15","author":"Slijkerman","year":"2018","journal-title":"Zebrafish"},{"key":"2020072105165009900_ref22","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/s10633-007-9087-4","article-title":"Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update","volume":"116","author":"Robson","year":"2008","journal-title":"Doc. Ophthalmol."},{"key":"2020072105165009900_ref23","doi-asserted-by":"crossref","first-page":"3456","DOI":"10.1167\/iovs.17-22339","article-title":"Report from the NEI\/FDA endpoints workshop on age-related macular degeneration and inherited retinal diseases","volume":"58","author":"Csaky","year":"2017","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2020072105165009900_ref24","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1038\/s41591-018-0295-0","article-title":"Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect","volume":"25","author":"Cideciyan","year":"2019","journal-title":"Nat. Med."},{"key":"2020072105165009900_ref25","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1016\/j.media.2019.01.010","article-title":"F-AnoGAN: fast unsupervised anomaly detection with generative adversarial networks","volume":"54","author":"Schlegl","year":"2019","journal-title":"Med. Image Anal."},{"key":"2020072105165009900_ref26","doi-asserted-by":"crossref","first-page":"4273","DOI":"10.1038\/s41467-018-05892-0","article-title":"Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with subtype and stage inference","volume":"9","author":"Young","year":"2018","journal-title":"Nat. Commun."},{"key":"2020072105165009900_ref27","doi-asserted-by":"crossref","first-page":"1108","DOI":"10.1177\/000348940211101208","article-title":"Hearing loss in usher syndrome type II is nonprogressive","volume":"111","author":"Reisser","year":"2002","journal-title":"Ann. Otol. Rhinol. Laryngol."},{"key":"2020072105165009900_ref28","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/j.heares.2016.06.008","article-title":"A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in usher syndrome type IIa","volume":"339","author":"Hartel","year":"2016","journal-title":"Hear. Res."},{"key":"2020072105165009900_ref29","doi-asserted-by":"crossref","first-page":"2189","DOI":"10.1093\/hmg\/9.14.2189","article-title":"Mariner is defective in myosin VIIA: a zebrafish model for human hereditary deafness","volume":"9","author":"Ernest","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"2020072105165009900_ref30","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1038\/nature02484","article-title":"Mutations in cadherin 23 affect tip links in zebrafish sensory hair cells","volume":"428","author":"Sollner","year":"2004","journal-title":"Nature"},{"key":"2020072105165009900_ref31","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1242\/dmm.006429","article-title":"Harmonin (Ush1c) is required in zebrafish Muller glial cells for photoreceptor synaptic development and function","volume":"4","author":"Phillips","year":"2011","journal-title":"Dis. Model. Mech."},{"key":"2020072105165009900_ref32","doi-asserted-by":"crossref","first-page":"10188","DOI":"10.1523\/JNEUROSCI.1096-15.2015","article-title":"Zebrafish models for the mechanosensory hair cell dysfunction in usher syndrome 3 reveal that Clarin-1 is an essential hair bundle protein","volume":"35","author":"Gopal","year":"2015","journal-title":"J. Neurosci."},{"key":"2020072105165009900_ref33","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1159\/000455705","article-title":"Biomarkers for hearing dysfunction: facts and outlook","volume":"79","author":"Ruttiger","year":"2017","journal-title":"ORL J. Otorhinolaryngol Relat. Spec."},{"key":"2020072105165009900_ref34","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/S0896-6273(00)80455-9","article-title":"Genetic analysis of vertebrate sensory hair cell mechanosensation: the zebrafish circler mutants","volume":"20","author":"Nicolson","year":"1998","journal-title":"Neuron"},{"key":"2020072105165009900_ref35","first-page":"1300","article-title":"The birth and death of photoreceptors :the Friedenwald lecture","volume":"43","author":"Papermaster","year":"2002","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2020072105165009900_ref36","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":"2020072105165009900_ref37","doi-asserted-by":"crossref","first-page":"6267","DOI":"10.1523\/JNEUROSCI.19-15-06267.1999","article-title":"Myosin VIIa participates in opsin transport through the photoreceptor cilium","volume":"19","author":"Liu","year":"1999","journal-title":"J. Neurosci."},{"key":"2020072105165009900_ref38","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/j.exer.2014.03.007","article-title":"Myosin 7aa(\u2212\/\u2212) mutant zebrafish show mild photoreceptor degeneration and reduced electroretinographic responses","volume":"122","author":"Wasfy","year":"2014","journal-title":"Exp. Eye Res."},{"key":"2020072105165009900_ref39","doi-asserted-by":"crossref","first-page":"e1000955","DOI":"10.1371\/journal.pgen.1000955","article-title":"Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss","volume":"6","author":"Yang","year":"2010","journal-title":"PLoS Genet."},{"key":"2020072105165009900_ref40","doi-asserted-by":"crossref","first-page":"2269","DOI":"10.1167\/iovs.09-4526","article-title":"Cell transplantation to arrest early changes in an ush2a animal model","volume":"51","author":"Lu","year":"2010","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2020072105165009900_ref41","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1016\/j.devcel.2015.01.027","article-title":"Light regulates the ciliary protein transport and outer segment disc renewal of mammalian photoreceptors","volume":"32","author":"Hsu","year":"2015","journal-title":"Dev. Cell"},{"key":"2020072105165009900_ref42","doi-asserted-by":"crossref","first-page":"2439","DOI":"10.1080\/15548627.2016.1238553","article-title":"Autophagy-mediated catabolism of visual transduction proteins prevents retinal degeneration","volume":"12","author":"Yao","year":"2016","journal-title":"Autophagy"},{"key":"2020072105165009900_ref43","doi-asserted-by":"crossref","first-page":"e2279","DOI":"10.1038\/cddis.2016.182","article-title":"TSC but not PTEN loss in starving cones of retinitis pigmentosa mice leads to an autophagy defect and mTORC1 dissociation from the lysosome","volume":"7","author":"Venkatesh","year":"2016","journal-title":"Cell Death Dis."},{"key":"2020072105165009900_ref44","doi-asserted-by":"crossref","first-page":"2967","DOI":"10.1167\/iovs.10-6278","article-title":"Differential effects of rapamycin on rods and cones during light-induced stress in albino mice","volume":"52","author":"Kunchithapautham","year":"2011","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2020072105165009900_ref45","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1038\/s41419-019-1780-1","article-title":"Shifting the balance of autophagy and proteasome activation reduces proteotoxic cell death: a novel therapeutic approach for restoring photoreceptor homeostasis","volume":"10","author":"Qiu","year":"2019","journal-title":"Cell Death Dis."},{"key":"2020072105165009900_ref46","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1038\/cdd.2010.191","article-title":"The Beclin 1 network regulates autophagy and apoptosis","volume":"18","author":"Kang","year":"2011","journal-title":"Cell Death Differ."},{"key":"2020072105165009900_ref47","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1080\/15548627.2015.1100356","article-title":"Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)","volume":"12","author":"Klionsky","year":"2016","journal-title":"Autophagy"},{"key":"2020072105165009900_ref48","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1038\/nrm3735","article-title":"Self-consumption: the interplay of autophagy and apoptosis","volume":"15","author":"Marino","year":"2014","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"2020072105165009900_ref49","volume-title":"Pure-tone air-conduction and boneconduction threshold audiometry with and without masking","author":"BSA","year":"2018"},{"key":"2020072105165009900_ref50","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1002\/aja.1002030302","article-title":"Stages of embryonic development of the zebrafish","volume":"203","author":"Kimmel","year":"1995","journal-title":"Dev. Dyn."},{"key":"2020072105165009900_ref51","doi-asserted-by":"crossref","first-page":"e98186","DOI":"10.1371\/journal.pone.0098186","article-title":"Efficient mutagenesis by Cas9 protein-mediated oligonucleotide insertion and large-scale assessment of single-guide RNAs","volume":"9","author":"Gagnon","year":"2014","journal-title":"PLoS One"},{"key":"2020072105165009900_ref52","doi-asserted-by":"crossref","first-page":"3793","DOI":"10.1038\/s41598-019-40507-8","article-title":"Phagosomal and mitochondrial alterations in RPE may contribute to KCNJ13 retinopathy","volume":"9","author":"Toms","year":"2019","journal-title":"Sci. Rep."},{"key":"2020072105165009900_ref53","doi-asserted-by":"crossref","first-page":"3416","DOI":"10.1093\/hmg\/ddw184","article-title":"Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model","volume":"25","author":"Moosajee","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"2020072105165009900_ref54"},{"key":"2020072105165009900_ref55","doi-asserted-by":"crossref","first-page":"4984","DOI":"10.1523\/JNEUROSCI.0615-07.2007","article-title":"Sensorimotor gating in larval zebrafish","volume":"27","author":"Burgess","year":"2007","journal-title":"J. Neurosci."},{"key":"2020072105165009900_ref56","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1083\/jcb.201404016","article-title":"Clarin-1 acts as a modulator of mechanotransduction activity and presynaptic ribbon assembly","volume":"207","author":"Ogun","year":"2014","journal-title":"J. Cell Biol."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/advance-article-pdf\/doi\/10.1093\/hmg\/ddaa004\/33416466\/ddaa004.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/29\/11\/1882\/33516172\/ddaa004.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/29\/11\/1882\/33516172\/ddaa004.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,7,21]],"date-time":"2020-07-21T09:18:09Z","timestamp":1595323089000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/29\/11\/1882\/5717917"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1,30]]},"references-count":56,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2020,1,30]]},"published-print":{"date-parts":[[2020,7,21]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddaa004","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2020,6,1]]},"published":{"date-parts":[[2020,1,30]]}}}