{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T11:14:32Z","timestamp":1762082072407,"version":"build-2065373602"},"reference-count":74,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,10,26]],"date-time":"2022-10-26T00:00:00Z","timestamp":1666742400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100001818","name":"Research to Prevent Blindness","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001818","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006312","name":"BrightFocus Foundation","doi-asserted-by":"publisher","award":["M2017035"],"award-info":[{"award-number":["M2017035"]}],"id":[{"id":"10.13039\/100006312","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007698","name":"University of Florida","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007698","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["S10OD028476"],"award-info":[{"award-number":["S10OD028476"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008097","name":"Edward N. and Della L. Thome Memorial Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008097","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100016438","name":"Oxnard Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100016438","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001116","name":"Foundation Fighting Blindness","doi-asserted-by":"publisher","award":["TA-NMT-0621-0811-UFL"],"award-info":[{"award-number":["TA-NMT-0621-0811-UFL"]}],"id":[{"id":"10.13039\/100001116","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"NEI","doi-asserted-by":"publisher","award":["P30 EY005722","R01 EY026559","R01 EY031748"],"award-info":[{"award-number":["P30 EY005722","R01 EY026559","R01 EY031748"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["ajp.amjpathol.org","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Pathology"],"published-print":{"date-parts":[[2023,11]]},"DOI":"10.1016\/j.ajpath.2022.10.004","type":"journal-article","created":{"date-parts":[[2022,10,31]],"date-time":"2022-10-31T18:29:08Z","timestamp":1667240948000},"page":"1706-1720","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"title":["Distinct Phenotypic Consequences of Pathogenic Mutants Associated with Late-Onset Retinal Degeneration"],"prefix":"10.1016","volume":"193","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1862-786X","authenticated-orcid":false,"given":"Lei","family":"Xu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1349-6565","authenticated-orcid":false,"given":"William N.","family":"Ruddick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan N.","family":"Bolch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2907-0371","authenticated-orcid":false,"given":"Mikael","family":"Klingeborn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7973-7125","authenticated-orcid":false,"given":"Frank M.","family":"Dyka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manoj M.","family":"Kulkarni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiab P.","family":"Simpson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1127-4774","authenticated-orcid":false,"given":"William A.","family":"Beltran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8555-9596","authenticated-orcid":false,"given":"Catherine","family":"Bowes Rickman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. Clay","family":"Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6328-8601","authenticated-orcid":false,"given":"Astra","family":"Dinculescu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajpath.2022.10.004_bib1","doi-asserted-by":"crossref","first-page":"2657","DOI":"10.1093\/hmg\/ddg289","article-title":"Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration","volume":"12","author":"Hayward","year":"2003","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ajpath.2022.10.004_bib2","doi-asserted-by":"crossref","first-page":"1643","DOI":"10.1097\/IAE.0b013e318240a574","article-title":"The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration","volume":"32","author":"Vincent","year":"2012","journal-title":"Retina"},{"key":"10.1016\/j.ajpath.2022.10.004_bib3","doi-asserted-by":"crossref","first-page":"3363","DOI":"10.1167\/iovs.05-0159","article-title":"Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation","volume":"46","author":"Ayyagari","year":"2005","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajpath.2022.10.004_bib4","doi-asserted-by":"crossref","first-page":"5505","DOI":"10.1167\/iovs.06-0312","article-title":"CTRP5 is a membrane-associated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretion","volume":"47","author":"Mandal","year":"2006","journal-title":"Invest Ophthalmol Visual Sci"},{"key":"10.1016\/j.ajpath.2022.10.004_bib5","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1055\/s-0032-1333299","article-title":"Regulation and function of C1Q\/TNF-related protein-5 (CTRP-5) in the context of adipocyte biology","volume":"121","author":"Schmid","year":"2013","journal-title":"Exp Clin Endocrinol Diabetes"},{"key":"10.1016\/j.ajpath.2022.10.004_bib6","doi-asserted-by":"crossref","first-page":"e191","DOI":"10.1111\/aos.12010","article-title":"Phenotypic findings in C1QTNF5 retinopathy (late-onset retinal degeneration)","volume":"91","author":"Soumplis","year":"2013","journal-title":"Acta Ophthalmol"},{"key":"10.1016\/j.ajpath.2022.10.004_bib7","first-page":"1882","article-title":"Phenotypic marker for early disease detection in dominant late-onset retinal degeneration","volume":"42","author":"Jacobson","year":"2001","journal-title":"Invest Ophthalmol Visual Sci"},{"key":"10.1016\/j.ajpath.2022.10.004_bib8","doi-asserted-by":"crossref","first-page":"2256","DOI":"10.1016\/S0161-6420(00)00419-X","article-title":"Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration","volume":"107","author":"Milam","year":"2000","journal-title":"Ophthalmology"},{"key":"10.1016\/j.ajpath.2022.10.004_bib9","first-page":"284","article-title":"Late-onset retinal macular degeneration: clinical insights into an inherited retinal degeneration","volume":"93","author":"Borooah","year":"2009","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.ajpath.2022.10.004_bib10","doi-asserted-by":"crossref","first-page":"2348","DOI":"10.1097\/IAE.0000000000001113","article-title":"Longitudinal structural changes in late-onset retinal degeneration","volume":"36","author":"Cukras","year":"2016","journal-title":"Retina"},{"key":"10.1016\/j.ajpath.2022.10.004_bib11","doi-asserted-by":"crossref","first-page":"1252","DOI":"10.1001\/jamaophthalmol.2014.2059","article-title":"Late-onset retinal degeneration caused by C1QTNF5 mutation: sub-retinal pigment epithelium deposits and visual consequences","volume":"132","author":"Jacobson","year":"2014","journal-title":"JAMA Ophthalmol"},{"key":"10.1016\/j.ajpath.2022.10.004_bib12","first-page":"1772","article-title":"Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration","volume":"37","author":"Kuntz","year":"1996","journal-title":"Invest Ophthalmol Visual Sci"},{"key":"10.1016\/j.ajpath.2022.10.004_bib13","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1007\/BF02143075","article-title":"Extensive subretinal pigment epithelial deposit in two brothers suffering from dominant retinitis pigmentosa: a histopathological study","volume":"224","author":"Duvall","year":"1986","journal-title":"Graefe's Arch Clin Exp Ophthalmol"},{"key":"10.1016\/j.ajpath.2022.10.004_bib14","doi-asserted-by":"crossref","first-page":"e27433","DOI":"10.1371\/journal.pone.0027433","article-title":"Characterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degeneration","volume":"6","author":"Shu","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.ajpath.2022.10.004_bib15","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":"10.1016\/j.ajpath.2022.10.004_bib16","first-page":"273","article-title":"Presence of rd8 mutation does not alter the ocular phenotype of late-onset retinal degeneration mouse model","volume":"21","author":"Sahu","year":"2015","journal-title":"Mol Vision"},{"key":"10.1016\/j.ajpath.2022.10.004_bib17","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1016\/j.jsb.2012.07.011","article-title":"Crystal structure of the globular domain of C1QTNF5: implications for late-onset retinal macular degeneration","volume":"180","author":"Tu","year":"2012","journal-title":"J Struct Biol"},{"key":"10.1016\/j.ajpath.2022.10.004_bib18","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1016\/j.jsb.2014.02.001","article-title":"The macular degeneration-linked C1QTNF5 (S163) mutation causes higher-order structural rearrangements","volume":"186","author":"Tu","year":"2014","journal-title":"J Struct Biol"},{"key":"10.1016\/j.ajpath.2022.10.004_bib19","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1016\/j.it.2004.08.006","article-title":"C1q and tumor necrosis factor superfamily: modularity and versatility","volume":"25","author":"Kishore","year":"2004","journal-title":"Trends Immunol"},{"key":"10.1016\/j.ajpath.2022.10.004_bib20","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1017\/S0952523808080723","article-title":"Membrane frizzled-related protein is necessary for the normal development and maintenance of photoreceptor outer segments","volume":"25","author":"Won","year":"2008","journal-title":"Vis Neurosci"},{"key":"10.1016\/j.ajpath.2022.10.004_bib21","doi-asserted-by":"crossref","first-page":"6971","DOI":"10.1167\/iovs.15-17166","article-title":"Pathological effects of mutant C1QTNF5 (S163R) expression in murine retinal pigment epithelium","volume":"56","author":"Dinculescu","year":"2015","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajpath.2022.10.004_bib22","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1007\/978-3-319-75402-4_8","article-title":"Co-expression of wild-type and mutant S163R C1QTNF5 in retinal pigment epithelium","volume":"1074","author":"Dinculescu","year":"2018","journal-title":"Adv Exp Med Biol"},{"key":"10.1016\/j.ajpath.2022.10.004_bib23","doi-asserted-by":"crossref","first-page":"12147","DOI":"10.1038\/s41598-017-11898-3","article-title":"Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration","volume":"7","author":"Stanton","year":"2017","journal-title":"Sci Rep"},{"key":"10.1016\/j.ajpath.2022.10.004_bib24","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1080\/13816810.2021.1923041","article-title":"Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene","volume":"42","author":"De Zaeytijd","year":"2021","journal-title":"Ophthalmic Genetics"},{"key":"10.1016\/j.ajpath.2022.10.004_bib25","doi-asserted-by":"crossref","first-page":"1127","DOI":"10.1016\/j.ajo.2005.06.023","article-title":"Long anterior lens zonules in late-onset retinal degeneration (L-ORD)","volume":"140","author":"Subrayan","year":"2005","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.ajpath.2022.10.004_bib26","doi-asserted-by":"crossref","first-page":"19064","DOI":"10.1074\/jbc.M309881200","article-title":"Analysis of the VMD2 promoter and implication of E-box binding factors in its regulation","volume":"279","author":"Esumi","year":"2004","journal-title":"J Biol Chem"},{"key":"10.1016\/j.ajpath.2022.10.004_bib27","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1038\/mt.2010.234","article-title":"Novel properties of tyrosine-mutant AAV2 vectors in the mouse retina","volume":"19","author":"Petrs-Silva","year":"2011","journal-title":"Mol Ther"},{"key":"10.1016\/j.ajpath.2022.10.004_bib28","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1089\/hum.2011.169","article-title":"Gene therapy for retinitis pigmentosa caused by MFRP mutations: human phenotype and preliminary proof of concept","volume":"23","author":"Dinculescu","year":"2012","journal-title":"Hum Gene Ther"},{"key":"10.1016\/j.ajpath.2022.10.004_bib29","doi-asserted-by":"crossref","first-page":"E2839","DOI":"10.1073\/pnas.1720662115","article-title":"BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure","volume":"115","author":"Guziewicz","year":"2018","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.ajpath.2022.10.004_bib30","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1007\/978-1-4614-3209-8_89","article-title":"Gene therapy in the rd6 mouse model of retinal degeneration","volume":"801","author":"Dinculescu","year":"2014","journal-title":"Adv Exp Med Biol"},{"key":"10.1016\/j.ajpath.2022.10.004_bib31","doi-asserted-by":"crossref","first-page":"101201","DOI":"10.1016\/j.redox.2019.101201","article-title":"Mitochondrial oxidative stress in the retinal pigment epithelium (RPE) led to metabolic dysfunction in both the RPE and retinal photoreceptors","volume":"24","author":"Brown","year":"2019","journal-title":"Redox Biol"},{"key":"10.1016\/j.ajpath.2022.10.004_bib32","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1002\/path.5360","article-title":"Clarin-1 expression in adult mouse and human retina highlights a role of M\u00fcller glia in Usher syndrome","volume":"250","author":"Xu","year":"2020","journal-title":"J Pathol"},{"key":"10.1016\/j.ajpath.2022.10.004_bib33","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/0042-6989(91)90069-H","article-title":"Anti-rhodopsin monoclonal antibodies of defined specificity: characterization and application","volume":"31","author":"Adamus","year":"1991","journal-title":"Vis Res"},{"key":"10.1016\/j.ajpath.2022.10.004_bib34","doi-asserted-by":"crossref","first-page":"1572","DOI":"10.1016\/j.ophtha.2014.02.023","article-title":"International Nomenclature for Optical Coherence Tomography (IN\u2217OCT) Panel: Proposed lexicon for anatomic landmarks in normal posterior segment spectral-domain optical coherence tomography: the IN\u2217OCT consensus","volume":"121","author":"Staurenghi","year":"2014","journal-title":"Ophthalmology"},{"key":"10.1016\/j.ajpath.2022.10.004_bib35","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1097\/IAE.0000000000002792","article-title":"Revised classification of the optical coherence tomography outer retinal bands based on central serous chorioretinopathy analysis","volume":"41","author":"Bloom","year":"2021","journal-title":"Retina"},{"key":"10.1016\/j.ajpath.2022.10.004_bib36","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1167\/iovs.61.13.19","article-title":"Measuring the contributions of basal laminar deposit and Bruch's membrane in age-related macular degeneration","volume":"61","author":"Sura","year":"2020","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajpath.2022.10.004_bib37","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1167\/tvst.6.2.8","article-title":"The effect of retinal melanin on optical coherence tomography images","volume":"6","author":"Wilk","year":"2017","journal-title":"Transl Vis Sci Technol"},{"key":"10.1016\/j.ajpath.2022.10.004_bib38","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1117\/1.JBO.24.6.066011","article-title":"Directional optical coherence tomography reveals melanin concentration-dependent scattering properties of retinal pigment epithelium","volume":"24","author":"Meleppat","year":"2019","journal-title":"J Biomed Opt"},{"key":"10.1016\/j.ajpath.2022.10.004_bib39","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1167\/iovs.62.7.9","article-title":"Age-related retinal changes in wild-type C57BL\/6J mice between 2 and 32 months","volume":"62","author":"Ferdous","year":"2021","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajpath.2022.10.004_bib40","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1017\/S0952523803202108","article-title":"Structure-function analysis of rods and cones in juvenile, adult, and aged C57bl\/6 and Balb\/c mice","volume":"20","author":"Gresh","year":"2003","journal-title":"Vis Neurosci"},{"key":"10.1016\/j.ajpath.2022.10.004_bib41","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1177\/0023677216653984","article-title":"Does age matter? the impact of rodent age on study outcomes","volume":"51","author":"Jackson","year":"2017","journal-title":"Lab Anim"},{"key":"10.1016\/j.ajpath.2022.10.004_bib42","first-page":"377","article-title":"Ultracytochemical localization of the erythrocyte\/HepG2-type glucose transporter (GLUT1) in cells of the blood-retinal barrier in the rat","volume":"33","author":"Takata","year":"1992","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajpath.2022.10.004_bib43","doi-asserted-by":"crossref","first-page":"3639","DOI":"10.1242\/jcs.072389","article-title":"Facilitative glucose transporter Glut1 is actively excluded from rod outer segments","volume":"123","author":"Gospe","year":"2010","journal-title":"J Cell Sci"},{"key":"10.1016\/j.ajpath.2022.10.004_bib44","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1002\/(SICI)1520-7560(199907\/08)15:4<261::AID-DMRR43>3.0.CO;2-Z","article-title":"Glucose transport in brain and retina: implications in the management and complications of diabetes","volume":"15","author":"Kumagai","year":"1999","journal-title":"Diabetes Metab Res Rev"},{"key":"10.1016\/j.ajpath.2022.10.004_bib45","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":"10.1016\/j.ajpath.2022.10.004_bib46","doi-asserted-by":"crossref","first-page":"5514","DOI":"10.1167\/iovs.06-0449","article-title":"Spatial and temporal expression of MFRP and its interaction with CTRP5","volume":"47","author":"Mandal","year":"2006","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajpath.2022.10.004_bib47","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1083\/jcb.201007162","article-title":"Global defects in collagen secretion in a Mia3\/TANGO1 knockout mouse","volume":"193","author":"Wilson","year":"2011","journal-title":"J Cell Biol"},{"key":"10.1016\/j.ajpath.2022.10.004_bib48","doi-asserted-by":"crossref","first-page":"4822","DOI":"10.1093\/hmg\/ddu197","article-title":"Connective tissue alterations in Fkbp10-\/- mice","volume":"23","author":"Lietman","year":"2014","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ajpath.2022.10.004_bib49","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1007\/s00441-009-0844-4","volume":"339","author":"Gordon","year":"2010","journal-title":"Collagens. Cell Tissue Res"},{"key":"10.1016\/j.ajpath.2022.10.004_bib50","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/j.preteyeres.2013.11.001","article-title":"Macular dystrophies mimicking age-related macular degeneration","volume":"39","author":"Saksens","year":"2014","journal-title":"Prog Retinal Eye Res"},{"key":"10.1016\/j.ajpath.2022.10.004_bib51","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1002\/jnr.24317","article-title":"Sorsby fundus dystrophy: insights from the past and looking to the future","volume":"97","author":"Anand-Apte","year":"2019","journal-title":"J Neurosci Res"},{"key":"10.1016\/j.ajpath.2022.10.004_bib52","doi-asserted-by":"crossref","first-page":"13067","DOI":"10.1073\/pnas.202491599","article-title":"Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration","volume":"99","author":"Marmorstein","year":"2002","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.ajpath.2022.10.004_bib53","doi-asserted-by":"crossref","first-page":"1329","DOI":"10.1136\/bjo.82.11.1329","article-title":"Accumulation of tissue inhibitor of metalloproteinases-3 in human eyes with Sorsby's fundus dystrophy or retinitis pigmentosa","volume":"82","author":"Fariss","year":"1998","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.ajpath.2022.10.004_bib54","doi-asserted-by":"crossref","first-page":"1020","DOI":"10.1038\/s41433-019-0348-8","article-title":"Multimodal imaging of late-onset retinal degeneration complicated by bilateral choroidal neovascularization","volume":"33","author":"Mandal","year":"2019","journal-title":"Eye"},{"key":"10.1016\/j.ajpath.2022.10.004_bib55","first-page":"1921","article-title":"Localization of TIMP-3 mRNA expression to the retinal pigment epithelium","volume":"37","author":"Della","year":"1996","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajpath.2022.10.004_bib56","first-page":"323","article-title":"Tissue inhibitor of metalloproteinases-3 is a component of Bruch's membrane of the eye","volume":"150","author":"Fariss","year":"1997","journal-title":"Am J Pathol"},{"key":"10.1016\/j.ajpath.2022.10.004_bib57","doi-asserted-by":"crossref","first-page":"30469","DOI":"10.1074\/jbc.M403026200","article-title":"Tissue inhibitor of metalloproteinases-3 (TIMP-3) is a binding partner of epithelial growth factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1): implications for macular degenerations","volume":"279","author":"Klenotic","year":"2004","journal-title":"J Biol Chem"},{"key":"10.1016\/j.ajpath.2022.10.004_bib58","doi-asserted-by":"crossref","first-page":"2411","DOI":"10.1093\/hmg\/ddm198","article-title":"The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice","volume":"16","author":"Fu","year":"2007","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ajpath.2022.10.004_bib59","doi-asserted-by":"crossref","first-page":"2423","DOI":"10.1093\/hmg\/ddm199","article-title":"Formation and progression of sub-retinal pigment epithelium deposits in Efemp1 mutation knock-in mice: a model for the early pathogenic course of macular degeneration","volume":"16","author":"Marmorstein","year":"2007","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ajpath.2022.10.004_bib60","doi-asserted-by":"crossref","first-page":"10416","DOI":"10.1038\/s41598-021-89978-8","article-title":"Complement C5 is not critical for the formation of sub-RPE deposits in Efemp1 mutant mice","volume":"11","author":"Garland","year":"2021","journal-title":"Sci Rep"},{"key":"10.1016\/j.ajpath.2022.10.004_bib61","doi-asserted-by":"crossref","first-page":"5555","DOI":"10.1093\/hmg\/ddv287","article-title":"A local complement response by RPE causes early-stage macular degeneration","volume":"24","author":"Fernandez-Godino","year":"2015","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ajpath.2022.10.004_bib62","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1097\/IAE.0000000000000263","article-title":"Comparison of drusen and modifying genes in autosomal dominant radial drusen and age-related macular degeneration","volume":"35","author":"Sohn","year":"2015","journal-title":"Retina"},{"key":"10.1016\/j.ajpath.2022.10.004_bib63","doi-asserted-by":"crossref","first-page":"E8214","DOI":"10.1073\/pnas.1710430114","article-title":"Drusen in patient-derived hiPSC-RPE models of macular dystrophies","volume":"114","author":"Galloway","year":"2017","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.ajpath.2022.10.004_bib64","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/j.preteyeres.2016.04.008","article-title":"Differentiating drusen: drusen and drusen-like appearances associated with ageing, age-related macular degeneration, inherited eye disease and other pathological processes","volume":"53","author":"Khan","year":"2016","journal-title":"Prog Retinal Eye Res"},{"key":"10.1016\/j.ajpath.2022.10.004_bib65","doi-asserted-by":"crossref","first-page":"3033","DOI":"10.1172\/JCI42437","article-title":"Therapeutic targets in age-related macular disease","volume":"120","author":"Bird","year":"2010","journal-title":"J Clin Invest"},{"key":"10.1016\/j.ajpath.2022.10.004_bib66","doi-asserted-by":"crossref","first-page":"968","DOI":"10.1167\/iovs.06-0443","article-title":"Relationship of basal laminar deposit and membranous debris to the clinical presentation of early age-related macular degeneration","volume":"48","author":"Sarks","year":"2007","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajpath.2022.10.004_bib67","doi-asserted-by":"crossref","first-page":"e13011","DOI":"10.1111\/acel.13011","article-title":"Late-onset retinal degeneration pathology due to mutations in CTRP5 is mediated through HTRA1","volume":"18","author":"Chekuri","year":"2019","journal-title":"Aging Cell"},{"key":"10.1016\/j.ajpath.2022.10.004_bib68","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1016\/j.ebiom.2017.12.011","article-title":"HtrA1 mediated intracellular effects on tubulin using a polarized RPE disease model","volume":"27","author":"Melo","year":"2018","journal-title":"EBioMedicine"},{"key":"10.1016\/j.ajpath.2022.10.004_bib69","doi-asserted-by":"crossref","first-page":"992","DOI":"10.1126\/science.1133811","article-title":"A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration","volume":"314","author":"Yang","year":"2006","journal-title":"Science"},{"key":"10.1016\/j.ajpath.2022.10.004_bib70","doi-asserted-by":"crossref","first-page":"2089","DOI":"10.3390\/ijms22042089","article-title":"Autosomal dominant gyrate atrophy-like choroidal dystrophy revisited: 45 years follow-up and association with a novel C1QTNF5 missense variant","volume":"22","author":"Kellner","year":"2021","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.ajpath.2022.10.004_bib71","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1002\/jgm.707","article-title":"Viral vectors as tools to model and treat neurodegenerative disorders","volume":"7","author":"Deglon","year":"2005","journal-title":"J Gene Med"},{"key":"10.1016\/j.ajpath.2022.10.004_bib72","doi-asserted-by":"crossref","first-page":"1360","DOI":"10.1038\/s42003-021-02872-x","article-title":"AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration","volume":"4","author":"Miyagishima","year":"2021","journal-title":"Commun Biol"},{"key":"10.1016\/j.ajpath.2022.10.004_bib73","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1002\/path.5506","article-title":"In\u00a0vitro stem cell modelling demonstrates a proof-of-concept for excess functional mutant TIMP3 as the cause of Sorsby fundus dystrophy","volume":"252","author":"Hongisto","year":"2020","journal-title":"J Pathol"},{"key":"10.1016\/j.ajpath.2022.10.004_bib74","doi-asserted-by":"crossref","first-page":"109170","DOI":"10.1016\/j.exer.2022.109170","article-title":"Cell culture models to study retinal pigment epithelium-related pathogenesis in age-related macular degeneration","volume":"222","author":"Bharti","year":"2022","journal-title":"Exp Eye Res"}],"container-title":["The American Journal of Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002944022003273?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002944022003273?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T11:09:46Z","timestamp":1762081786000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002944022003273"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11]]},"references-count":74,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["S0002944022003273"],"URL":"https:\/\/doi.org\/10.1016\/j.ajpath.2022.10.004","relation":{},"ISSN":["0002-9440"],"issn-type":[{"type":"print","value":"0002-9440"}],"subject":[],"published":{"date-parts":[[2023,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Distinct Phenotypic Consequences of Pathogenic Mutants Associated with Late-Onset Retinal Degeneration","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Pathology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajpath.2022.10.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 American Society for Investigative Pathology. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}