{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,6]],"date-time":"2026-09-06T03:53:18Z","timestamp":1788666798363,"version":"build-2803163510"},"reference-count":32,"publisher":"Elsevier BV","issue":"12","license":[{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T00:00:00Z","timestamp":1761177600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100025520","name":"Medical Research Future Fund","doi-asserted-by":"publisher","award":["MRF2008912"],"award-info":[{"award-number":["MRF2008912"]}],"id":[{"id":"10.13039\/501100025520","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001774","name":"University of Sydney","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001774","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005662","name":"Neil and Norma Hill Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005662","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["GNT2013451"],"award-info":[{"award-number":["GNT2013451"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Stem Cell Reports"],"published-print":{"date-parts":[[2025,12]]},"DOI":"10.1016\/j.stemcr.2025.102717","type":"journal-article","created":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T20:39:23Z","timestamp":1763671163000},"page":"102717","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["Connecting cilium, stress response, and proteostasis abnormalities inform variant and therapy assessment in RPGRIP1 retinal organoids"],"prefix":"10.1016","volume":"20","author":[{"given":"To Ha","family":"Loi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anson","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hani Jieun","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milan","family":"Fernando","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin M.","family":"Nash","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nader","family":"Aryamanesh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John R.","family":"Grigg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pengyi","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anai","family":"Gonzalez-Cordero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robyn V.","family":"Jamieson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.stemcr.2025.102717_bib1","doi-asserted-by":"crossref","DOI":"10.1016\/j.nbd.2024.106463","article-title":"Specific photoreceptor cell fate pathways are differentially altered in NR2E3-associated diseases","volume":"194","author":"Aisa-Marin","year":"2024","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.stemcr.2025.102717_bib2","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1016\/j.tcb.2019.08.002","article-title":"The Nucleolus as a Proteostasis Regulator","volume":"29","author":"Amer-Sarsour","year":"2019","journal-title":"Trends Cell Biol."},{"key":"10.1016\/j.stemcr.2025.102717_bib3","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0112142","article-title":"Identification of a common non-apoptotic cell death mechanism in hereditary retinal degeneration","volume":"9","author":"Arango-Gonzalez","year":"2014","journal-title":"PLoS One"},{"key":"10.1016\/j.stemcr.2025.102717_bib4","doi-asserted-by":"crossref","DOI":"10.3389\/fcell.2021.746781","article-title":"Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype-Phenotype Correlation in 228 Patients","volume":"9","author":"Beryozkin","year":"2021","journal-title":"Front. Cell Dev. Biol."},{"key":"10.1016\/j.stemcr.2025.102717_bib5","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.169426","article-title":"TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa","volume":"8","author":"Bocquet","year":"2023","journal-title":"JCI Insight"},{"key":"10.1016\/j.stemcr.2025.102717_bib6","doi-asserted-by":"crossref","DOI":"10.3390\/jpm12030502","article-title":"Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic RPGR Variant Assessment for Therapy Suitability","volume":"12","author":"Chahine Karam","year":"2022","journal-title":"J. Pers. Med."},{"key":"10.1016\/j.stemcr.2025.102717_bib7","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1016\/j.ajo.2024.05.007","article-title":"Clinical, Ophthalmic, and Genetic Characterization of RPGRIP1-Associated Leber Congenital Amaurosis\/Early-Onset Severe Retinal Dystrophy","volume":"266","author":"Daich Varela","year":"2024","journal-title":"Am. J. Ophthalmol."},{"key":"10.1016\/j.stemcr.2025.102717_bib8","doi-asserted-by":"crossref","first-page":"1476","DOI":"10.1016\/j.stemcr.2022.04.003","article-title":"Differentiation of brain and retinal organoids from confluent cultures of pluripotent stem cells connected by nerve-like axonal projections of optic origin","volume":"17","author":"Fernando","year":"2022","journal-title":"Stem Cell Rep."},{"key":"10.1016\/j.stemcr.2025.102717_bib9","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1038\/ki.2010.27","article-title":"The retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) links RPGR to the nephronophthisis protein network","volume":"77","author":"Gerner","year":"2010","journal-title":"Kidney Int."},{"key":"10.1016\/j.stemcr.2025.102717_bib10","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1006\/scdb.1999.0351","article-title":"The function of alpha-crystallin in vision","volume":"11","author":"Horwitz","year":"2000","journal-title":"Semin. Cell Dev. Biol."},{"key":"10.1016\/j.stemcr.2025.102717_bib11","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1016\/j.ophtha.2006.10.028","article-title":"Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential","volume":"114","author":"Jacobson","year":"2007","journal-title":"Ophthalmology"},{"key":"10.1016\/j.stemcr.2025.102717_bib12","doi-asserted-by":"crossref","first-page":"E5716","DOI":"10.1073\/pnas.1411248112","article-title":"STAT3 promotes survival of mutant photoreceptors in inherited photoreceptor degeneration models","volume":"111","author":"Jiang","year":"2014","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.stemcr.2025.102717_bib13","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1038\/s42003-020-0808-5","article-title":"Investigating cone photoreceptor development using patient-derived NRL null retinal organoids","volume":"3","author":"Kallman","year":"2020","journal-title":"Commun. Biol."},{"key":"10.1016\/j.stemcr.2025.102717_bib14","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/j.stemcr.2022.12.002","article-title":"Comprehensive characterization of fetal and mature retinal cell identity to assess the fidelity of retinal organoids","volume":"18","author":"Kim","year":"2023","journal-title":"Stem Cell Rep."},{"key":"10.1016\/j.stemcr.2025.102717_bib15","doi-asserted-by":"crossref","first-page":"2005","DOI":"10.1002\/glia.23038","article-title":"Conditional rod photoreceptor ablation reveals Sall1 as a microglial marker and regulator of microglial morphology in the retina","volume":"64","author":"Koso","year":"2016","journal-title":"Glia"},{"key":"10.1016\/j.stemcr.2025.102717_bib16","doi-asserted-by":"crossref","first-page":"2172","DOI":"10.1016\/j.stemcr.2022.08.006","article-title":"In vitro modeling and rescue of ciliopathy associated with IQCB1\/NPHP5 mutations using patient-derived cells","volume":"17","author":"Kruczek","year":"2022","journal-title":"Stem Cell Rep."},{"key":"10.1016\/j.stemcr.2025.102717_bib17","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":"10.1016\/j.stemcr.2025.102717_bib18","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1186\/s12937-016-0186-5","article-title":"The importance of antioxidants which play the role in cellular response against oxidative\/nitrosative stress: current state","volume":"15","author":"Kurutas","year":"2016","journal-title":"Nutr. J."},{"key":"10.1016\/j.stemcr.2025.102717_bib19","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1038\/mt.2013.232","article-title":"Successful gene therapy in the RPGRIP1-deficient dog: a large model of cone-rod dystrophy","volume":"22","author":"Lheriteau","year":"2014","journal-title":"Mol. Ther."},{"key":"10.1016\/j.stemcr.2025.102717_bib20","doi-asserted-by":"crossref","first-page":"2375","DOI":"10.1002\/pro.5560051201","article-title":"The C2 domain calcium-binding motif: structural and functional diversity","volume":"5","author":"Nalefski","year":"1996","journal-title":"Protein Sci."},{"key":"10.1016\/j.stemcr.2025.102717_bib21","doi-asserted-by":"crossref","DOI":"10.1155\/2021\/4536382","article-title":"Evaluation for Retinal Therapy for RPE65 Variation Assessed in hiPSC Retinal Pigment Epithelial Cells","volume":"2021","author":"Nash","year":"2021","journal-title":"Stem Cells Int."},{"key":"10.1016\/j.stemcr.2025.102717_bib22","doi-asserted-by":"crossref","DOI":"10.1155\/2015\/414781","article-title":"The Role of RPGR and Its Interacting Proteins in Ciliopathies","volume":"2015","author":"Patnaik","year":"2015","journal-title":"J. Ophthalmol."},{"key":"10.1016\/j.stemcr.2025.102717_bib23","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1089\/hum.2009.218","article-title":"Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis","volume":"21","author":"Pawlyk","year":"2010","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.stemcr.2025.102717_bib24","doi-asserted-by":"crossref","first-page":"2163","DOI":"10.1016\/j.ajhg.2022.10.013","article-title":"Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3\/BP4 criteria","volume":"109","author":"Pejaver","year":"2022","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.stemcr.2025.102717_bib25","doi-asserted-by":"crossref","first-page":"4540","DOI":"10.1523\/JNEUROSCI.0492-05.2005","article-title":"The genomic response to retinal disease and injury: evidence for endothelin signaling from photoreceptors to glia","volume":"25","author":"Rattner","year":"2005","journal-title":"J. Neurosci."},{"key":"10.1016\/j.stemcr.2025.102717_bib26","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.stemcr.2025.102717_bib27","doi-asserted-by":"crossref","first-page":"18520","DOI":"10.1073\/pnas.0505774102","article-title":"Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations","volume":"102","author":"Roepman","year":"2005","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.stemcr.2025.102717_bib28","doi-asserted-by":"crossref","first-page":"1466","DOI":"10.1016\/j.ymthe.2025.01.042","article-title":"Systematic empirical evaluation of individual base editing targets: Validating therapeutic targets in USH2A and comparison of methods","volume":"33","author":"Tachida","year":"2025","journal-title":"Mol. Ther."},{"key":"10.1016\/j.stemcr.2025.102717_bib29","doi-asserted-by":"crossref","first-page":"1451","DOI":"10.1038\/s41467-024-45748-4","article-title":"Aggregation of rhodopsin mutants in mouse models of autosomal dominant retinitis pigmentosa","volume":"15","author":"Vasudevan","year":"2024","journal-title":"Nat. Commun."},{"key":"10.1016\/j.stemcr.2025.102717_bib30","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1016\/j.stemcr.2022.02.019","article-title":"Antioxidant and lipid supplementation improve the development of photoreceptor outer segments in pluripotent stem cell-derived retinal organoids","volume":"17","author":"West","year":"2022","journal-title":"Stem Cell Rep."},{"key":"10.1016\/j.stemcr.2025.102717_bib31","doi-asserted-by":"crossref","DOI":"10.1155\/2012\/805827","article-title":"Analyzing effects of naturally occurring missense mutations","volume":"2012","author":"Zhang","year":"2012","journal-title":"Comput. Math. Methods Med."},{"key":"10.1016\/j.stemcr.2025.102717_bib32","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"}],"container-title":["Stem Cell Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2213671125003212?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2213671125003212?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,12,9]],"date-time":"2025-12-09T15:40:38Z","timestamp":1765294838000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2213671125003212"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12]]},"references-count":32,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["S2213671125003212"],"URL":"https:\/\/doi.org\/10.1016\/j.stemcr.2025.102717","relation":{},"ISSN":["2213-6711"],"issn-type":[{"value":"2213-6711","type":"print"}],"subject":[],"published":{"date-parts":[[2025,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Connecting cilium, stress response, and proteostasis abnormalities inform variant and therapy assessment in RPGRIP1 retinal organoids","name":"articletitle","label":"Article Title"},{"value":"Stem Cell Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.stemcr.2025.102717","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Inc. on behalf of International Society for Stem Cell Research.","name":"copyright","label":"Copyright"}],"article-number":"102717"}}