{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T02:33:25Z","timestamp":1790217205194,"version":"4.1.0"},"reference-count":51,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T00:00:00Z","timestamp":1770422400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Dutch Blindness Funds","award":["Uitzicht 2021-11"],"award-info":[{"award-number":["Uitzicht 2021-11"]}]},{"name":"Dutch Blindness Funds","award":["Uitzicht 2023-05"],"award-info":[{"award-number":["Uitzicht 2023-05"]}]},{"name":"Stichting UsherSyndroom","award":["Uitzicht 2021-11"],"award-info":[{"award-number":["Uitzicht 2021-11"]}]},{"name":"Stichting UsherSyndroom","award":["Uitzicht 2023-05"],"award-info":[{"award-number":["Uitzicht 2023-05"]}]},{"DOI":"10.13039\/501100010372","name":"Rotterdamse Stichting Blindenbelangen","doi-asserted-by":"publisher","award":["Uitzicht 2021-11"],"award-info":[{"award-number":["Uitzicht 2021-11"]}],"id":[{"id":"10.13039\/501100010372","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010318","name":"Landelijke Stichting voor Blinden en Slechtzienden","doi-asserted-by":"publisher","award":["Uitzicht 2021-11"],"award-info":[{"award-number":["Uitzicht 2021-11"]}],"id":[{"id":"10.13039\/501100010318","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010318","name":"Landelijke Stichting voor Blinden en Slechtzienden","doi-asserted-by":"publisher","award":["Uitzicht 2023-05"],"award-info":[{"award-number":["Uitzicht 2023-05"]}],"id":[{"id":"10.13039\/501100010318","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010374","name":"Stichting Blindenhulp","doi-asserted-by":"publisher","award":["Uitzicht 2021-11"],"award-info":[{"award-number":["Uitzicht 2021-11"]}],"id":[{"id":"10.13039\/501100010374","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Stichting Oogfonds","award":["Uitzicht 2023-05"],"award-info":[{"award-number":["Uitzicht 2023-05"]}]},{"DOI":"10.13039\/501100010330","name":"Stichting Retina Nederland Fonds","doi-asserted-by":"publisher","award":["Uitzicht 2023-05"],"award-info":[{"award-number":["Uitzicht 2023-05"]}],"id":[{"id":"10.13039\/501100010330","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Pathological USH2A mutations cause Usher syndrome type II, characterized by progressive retinitis pigmentosa and hearing and balance impairment. This study aims to investigate the cellular mechanisms underlying USH2A-related retinal degeneration using human induced pluripotent stem cell (hiPSC)-derived retinal organoids. The introduction of a homozygous nonsense mutation in the USH2A hotspot exon-13 resulted in normal photoreceptor development but loss of ciliary localization of usherin long form B and its interacting proteins, ADGRV1 and whirlin. Notably, single-cell RNA sequencing revealed unexpected significant transcriptional changes in M\u00fcller glial cells (MGCs), suggestive of disruptions in the translation, innate immune response, and endolysosomal system. These findings suggest that, while photoreceptor cells are mildly affected by the exon-13 USH2A mutation, MGCs exhibit major transcriptional changes, potentially contributing to the disease progression and therefore shedding light on potential alternative therapeutic targets.<\/jats:p>","DOI":"10.3390\/ijms27041636","type":"journal-article","created":{"date-parts":[[2026,2,9]],"date-time":"2026-02-09T08:15:54Z","timestamp":1770624954000},"page":"1636","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Nonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in M\u00fcller Glial Cells"],"prefix":"10.3390","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5200-9144","authenticated-orcid":false,"given":"Rossella","family":"Valenzano","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuefei","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"McDonald","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0293-8540","authenticated-orcid":false,"given":"Ioannis","family":"Moustakas","sequence":"additional","affiliation":[{"name":"Department of Biomedical Data Sciences, Sequencing Analysis Support Core, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Menafra","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4779-099X","authenticated-orcid":false,"given":"Aat A.","family":"Mulder","sequence":"additional","affiliation":[{"name":"Department of Cell and Chemical Biology, Electron Microscopy Facility, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6736-7147","authenticated-orcid":false,"given":"Roman I.","family":"Koning","sequence":"additional","affiliation":[{"name":"Department of Cell and Chemical Biology, Electron Microscopy Facility, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan L.","family":"Kloet","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4799-0465","authenticated-orcid":false,"given":"Jun","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, John A. Moran Eye Center, University of Utah, 65 Mario Capecchi Drive, Salt Lake City, UT 84132, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1781-5508","authenticated-orcid":false,"given":"Hailiang","family":"Mei","sequence":"additional","affiliation":[{"name":"Department of Biomedical Data Sciences, Sequencing Analysis Support Core, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0099-460X","authenticated-orcid":false,"given":"Jan","family":"Wijnholds","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,2,7]]},"reference":[{"key":"ref_1","first-page":"31","article-title":"USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients","volume":"29","author":"Zenteno","year":"2023","journal-title":"Mol. 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