{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T02:20:57Z","timestamp":1792203657804,"version":"4.4.0"},"reference-count":50,"publisher":"Society for Neuroscience","issue":"15","license":[{"start":{"date-parts":[[2015,10,15]],"date-time":"2015-10-15T00:00:00Z","timestamp":1444867200000},"content-version":"vor","delay-in-days":183,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. Neurosci."],"published-print":{"date-parts":[[2015,4,15]]},"abstract":"<jats:p>We have identified and characterized a spontaneous Brown Norway from Janvier rat strain (BN-J) presenting a progressive retinal degeneration associated with early retinal telangiectasia, neuronal alterations, and loss of retinal M\u00fcller glial cells resembling human macular telangiectasia type 2 (MacTel 2), which is a retinal disease of unknown cause. Genetic analyses showed that the BN-J phenotype results from an autosomal recessive indel novel mutation in the<jats:italic>Crb1<\/jats:italic>gene, causing dislocalization of the protein from the retinal M\u00fcller glia (RMG)\/photoreceptor cell junction. The transcriptomic analyses of primary RMG cultures allowed identification of the dysregulated pathways in BN-J rats compared with wild-type BN rats. Among those pathways, TGF-\u03b2 and Kit Receptor Signaling, MAPK Cascade, Growth Factors and Inflammatory Pathways, G-Protein Signaling Pathways, Regulation of Actin Cytoskeleton, and Cardiovascular Signaling were found. Potential molecular targets linking RMG\/photoreceptor interaction with the development of retinal telangiectasia are identified. This model can help us to better understand the physiopathologic mechanisms of MacTel 2 and other retinal diseases associated with telangiectasia.<\/jats:p>","DOI":"10.1523\/jneurosci.3412-14.2015","type":"journal-article","created":{"date-parts":[[2015,4,15]],"date-time":"2015-04-15T16:37:33Z","timestamp":1429115853000},"page":"6093-6106","source":"Crossref","is-referenced-by-count":56,"title":["A New CRB1 Rat Mutation Links M\u00fcller Glial Cells to Retinal Telangiectasia"],"prefix":"10.1523","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5418-7275","authenticated-orcid":false,"given":"Min","family":"Zhao","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3287-6117","authenticated-orcid":false,"given":"Charlotte","family":"Andrieu-Soler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0268-9430","authenticated-orcid":false,"given":"Laura","family":"Kowalczuk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"Paz Cort\u00e9s","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4299-837X","authenticated-orcid":false,"given":"Marianne","family":"Berdugo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marilyn","family":"Dernigoghossian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco","family":"Halili","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Claude","family":"Jeanny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Goldenberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mich\u00e8le","family":"Savoldelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed","family":"El Sanharawi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Christine","family":"Naud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wilfred","family":"van Ijcken","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosanna","family":"Pescini-Gobert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle","family":"Martinet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro","family":"Maass","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0099-460X","authenticated-orcid":false,"given":"Jan","family":"Wijnholds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7578-0748","authenticated-orcid":false,"given":"Patricia","family":"Crisanti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Rivolta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francine","family":"Behar-Cohen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"393","published-online":{"date-parts":[[2015,4,15]]},"reference":[{"key":"2023041304163431000_35.15.6093.1","first-page":"451","article-title":"Modulation of retinal capillary endothelial cells by Muller glial cell-derived factors","volume":"15","author":"Abukawa","year":"2009","journal-title":"Mol Vis"},{"key":"2023041304163431000_35.15.6093.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2014.01.001"},{"key":"2023041304163431000_35.15.6093.3","first-page":"853","article-title":"TGF-beta increases retinal endothelial cell permeability by increasing MMP-9: possible role of glial cells in endothelial barrier function","volume":"42","author":"Behzadian","year":"2001","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"2023041304163431000_35.15.6093.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2006.05.003"},{"key":"2023041304163431000_35.15.6093.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2010.11.019"},{"key":"2023041304163431000_35.15.6093.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2012.11.002"},{"key":"2023041304163431000_35.15.6093.7","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.12-11559"},{"key":"2023041304163431000_35.15.6093.8","doi-asserted-by":"publisher","DOI":"10.4161\/tisb.26938"},{"key":"2023041304163431000_35.15.6093.9","doi-asserted-by":"publisher","DOI":"10.3109\/09286586.2013.766757"},{"key":"2023041304163431000_35.15.6093.10","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20093"},{"key":"2023041304163431000_35.15.6093.11","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/S0306-4522(99)00313-9","article-title":"Early postnatal Muller cell death leads to retinal but not optic nerve degeneration in NSE-Hu-Bcl-2 transgenic mice","volume":"95","author":"Dubois-Dauphin","year":"2000","journal-title":"Neuroscience"},{"key":"2023041304163431000_35.15.6093.12","doi-asserted-by":"publisher","DOI":"10.1002\/glia.22545"},{"key":"2023041304163431000_35.15.6093.13","doi-asserted-by":"publisher","DOI":"10.3109\/08820538.2012.760615"},{"key":"2023041304163431000_35.15.6093.14","doi-asserted-by":"publisher","DOI":"10.1038\/78774"},{"key":"2023041304163431000_35.15.6093.15","doi-asserted-by":"publisher","DOI":"10.1111\/j.1444-0938.2005.tb06686.x"},{"key":"2023041304163431000_35.15.6093.16","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.2010.186882"},{"key":"2023041304163431000_35.15.6093.17","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0053806"},{"key":"2023041304163431000_35.15.6093.18","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1136(200011)32:2<192::AID-GLIA80>3.0.CO;2-6"},{"key":"2023041304163431000_35.15.6093.19","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkr1074"},{"key":"2023041304163431000_35.15.6093.20","doi-asserted-by":"publisher","DOI":"10.1097\/IAE.0b013e31818ba9de"},{"key":"2023041304163431000_35.15.6093.21","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.063784"},{"key":"2023041304163431000_35.15.6093.22","doi-asserted-by":"publisher","DOI":"10.1021\/pr200889t"},{"key":"2023041304163431000_35.15.6093.23","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg232"},{"key":"2023041304163431000_35.15.6093.24","doi-asserted-by":"publisher","DOI":"10.1038\/ncb2679"},{"key":"2023041304163431000_35.15.6093.25","doi-asserted-by":"publisher","DOI":"10.1097\/IAE.0b013e3182625c1d"},{"key":"2023041304163431000_35.15.6093.26","first-page":"183","article-title":"The outer limiting membrane (OLM) revisited: clinical implications","volume":"4","author":"Omri","year":"2010","journal-title":"Clin Ophthalmol"},{"key":"2023041304163431000_35.15.6093.27","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0081600"},{"key":"2023041304163431000_35.15.6093.28","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.11-7251"},{"key":"2023041304163431000_35.15.6093.29","first-page":"2718","article-title":"Analysis of candidate genes for macular telangiectasia type 2","volume":"16","author":"Parmalee","year":"2010","journal-title":"Mol Vis"},{"key":"2023041304163431000_35.15.6093.30","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0024268"},{"key":"2023041304163431000_35.15.6093.31","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2010.04.001"},{"key":"2023041304163431000_35.15.6093.32","doi-asserted-by":"publisher","DOI":"10.1002\/cne.20134"},{"key":"2023041304163431000_35.15.6093.33","doi-asserted-by":"publisher","DOI":"10.1002\/glia.22477"},{"key":"2023041304163431000_35.15.6093.34","doi-asserted-by":"publisher","DOI":"10.1002\/cne.21730"},{"key":"2023041304163431000_35.15.6093.35","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.126.3.330"},{"key":"2023041304163431000_35.15.6093.36","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2841-12.2012"},{"key":"2023041304163431000_35.15.6093.37","doi-asserted-by":"publisher","DOI":"10.1016\/0306-4522(93)90473-S"},{"key":"2023041304163431000_35.15.6093.38","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp120"},{"key":"2023041304163431000_35.15.6093.39","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.1621"},{"key":"2023041304163431000_35.15.6093.40","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2004.12.026"},{"key":"2023041304163431000_35.15.6093.41","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2014.03.010"},{"key":"2023041304163431000_35.15.6093.42","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.01301"},{"key":"2023041304163431000_35.15.6093.43","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-9-399"},{"key":"2023041304163431000_35.15.6093.44","doi-asserted-by":"publisher","DOI":"10.1017\/S1740925X0400002X"},{"key":"2023041304163431000_35.15.6093.45","doi-asserted-by":"crossref","unstructured":"Wilson CW Ye W (2014) Regulation of vascular endothelial junction stability and remodeling through Rap1-Rasip1 signaling. Cell Adh Migr, 8.","DOI":"10.4161\/cam.28115"},{"key":"2023041304163431000_35.15.6093.46","doi-asserted-by":"publisher","DOI":"10.1002\/glia.20391"},{"key":"2023041304163431000_35.15.6093.47","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.124.4.450"},{"key":"2023041304163431000_35.15.6093.48","doi-asserted-by":"publisher","DOI":"10.1096\/fj.09-154344"},{"key":"2023041304163431000_35.15.6093.49","doi-asserted-by":"publisher","DOI":"10.1172\/JCI61427"},{"key":"2023041304163431000_35.15.6093.50","doi-asserted-by":"publisher","DOI":"10.1097\/IAE.0b013e318285cb9c"}],"container-title":["The Journal of Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1523\/JNEUROSCI.3412-14.2015","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,13]],"date-time":"2023-04-13T22:28:40Z","timestamp":1681424920000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jneurosci.org\/lookup\/doi\/10.1523\/JNEUROSCI.3412-14.2015"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4,15]]},"references-count":50,"journal-issue":{"issue":"15","published-online":{"date-parts":[[2015,4,15]]},"published-print":{"date-parts":[[2015,4,15]]}},"alternative-id":["10.1523\/JNEUROSCI.3412-14.2015"],"URL":"https:\/\/doi.org\/10.1523\/jneurosci.3412-14.2015","relation":{},"ISSN":["0270-6474","1529-2401"],"issn-type":[{"value":"0270-6474","type":"print"},{"value":"1529-2401","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,4,15]]}}}