{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T12:27:01Z","timestamp":1788265621056,"version":"build-2803163510"},"reference-count":54,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T00:00:00Z","timestamp":1745452800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-22-PEBI-0005"],"award-info":[{"award-number":["ANR-22-PEBI-0005"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"name":"TEFOR\u2019 \u00abInvestissements d\u2019Avenir","award":["ANRIIINSB-0014"],"award-info":[{"award-number":["ANRIIINSB-0014"]}]},{"name":"Labex IGO Project \u00abInvestissements d\u2019Avenir\u00bb","award":["ANR-11-LABX-0016-01"],"award-info":[{"award-number":["ANR-11-LABX-0016-01"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,6,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The ABCA4 protein plays an essential role in mammalian vision, ensuring the correct localization of all-trans-retinal within the visual cycle. Mutations in the ABCA4 gene are responsible for the juvenile maculopathy, Stargardt disease (STGD1). We investigated the most common variant underlying STGD1 phenotype in a rat model carrying the ortholog to the human c.5882G\u2009&amp;gt;\u2009A\/p.(Gly1961Glu) (G1961E) in ABCA4. While the pathogenicity of this variant has recently been questioned, we examine here whether the ortholog rat variant is associated with vitamin A toxicity in the retina. By crossing the rat line with a rat line deficient in ABCA4 protein, we reveal a more pathogenic phenotype in line with compound heterozygosity, making the model suitable for testing of gene, cell and pharmacological therapies.<\/jats:p>","DOI":"10.1093\/hmg\/ddaf057","type":"journal-article","created":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T19:28:36Z","timestamp":1745522916000},"page":"1040-1056","source":"Crossref","is-referenced-by-count":3,"title":["Generation of a compound heterozygous ABCA4 rat model with pathological features of STGD1"],"prefix":"10.1093","volume":"34","author":[{"given":"Cl\u00e9ment","family":"Morival","sequence":"first","affiliation":[{"name":"Nantes Universit\u00e9, CHU Nantes, INSERM, TARGET , Nantes F-44000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mika\u00ebl","family":"Croyal","sequence":"additional","affiliation":[{"name":"Institut du thorax, Nantes Universit\u00e9, CNRS, INSERM , Nantes ,","place":["France"]},{"name":"CHU Nantes, INSERM, CNRS, SFR Sant\u00e9, INSERM UMS 016, CNRS UMS 3556, Nantes Universit\u00e9 , Nantes ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9verine","family":"Remy","sequence":"additional","affiliation":[{"name":"INSERM, Center for Research in Transplantation and Translational Immunology, UMR 1064, TRIP facility, Nantes Universit\u00e9 \u00a0 Nantes F-44000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elodie","family":"Mortier","sequence":"additional","affiliation":[{"name":"Nantes Universit\u00e9, CHU Nantes, INSERM, TARGET , Nantes F-44000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lyse","family":"Libeau","sequence":"additional","affiliation":[{"name":"Nantes Universit\u00e9, CHU Nantes, INSERM, TARGET , Nantes F-44000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00eblle","family":"Veziers","sequence":"additional","affiliation":[{"name":"Nantes Universit\u00e9, Oniris, CHU Nantes, INSERM, Regenerative Medicine and Skeleton, RMeS, UMR 1229 , Nantes F-44000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Provost","sequence":"additional","affiliation":[{"name":"Nantes Universit\u00e9, CHU Nantes, INSERM, TARGET , Nantes F-44000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Demilly","sequence":"additional","affiliation":[{"name":"Nantes Universit\u00e9, CHU Nantes, INSERM, TARGET , Nantes F-44000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Mendes-Madeira","sequence":"additional","affiliation":[{"name":"Nantes Universit\u00e9, CHU Nantes, INSERM, TARGET , Nantes F-44000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina","family":"Isiegas","sequence":"additional","affiliation":[{"name":"Nantes Universit\u00e9, CHU Nantes, INSERM, TARGET , Nantes F-44000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Tesson","sequence":"additional","affiliation":[{"name":"INSERM, Center for Research in Transplantation and Translational Immunology, UMR 1064, TRIP facility, Nantes Universit\u00e9 \u00a0 Nantes F-44000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignacio","family":"Anegon","sequence":"additional","affiliation":[{"name":"INSERM, Center for Research in Transplantation and Translational Immunology, UMR 1064, TRIP facility, Nantes Universit\u00e9 \u00a0 Nantes F-44000 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