{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Song JY"],"funding":["Brenda and Matthew Shapiro Stewardship","NEI NIH HHS","Research to Prevent Blindness","Core Grant for Vision Research","Paul and Evanina Mackall Foundation Trust","Foundation Fighting Blindness","Robert and Susan Heidenberg Investigative Research Fund for Ocular Gene Therapy","F.M. Kirby Foundation","FFB-Canada","Center for Advanced Retinal and Ocular Therapeutics","National Eye Institute/NIH","CIHR"],"pagination":["1581-1593"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5986734"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["26(6)"],"pubmed_abstract":["Most genetically distinct inherited retinal degenerations are primary photoreceptor degenerations. We selected a severe early onset form of Leber congenital amaurosis (LCA), caused by mutations in the gene LCA5, in order to test the efficacy of gene augmentation therapy for a ciliopathy. The LCA5-encoded protein, Lebercilin, is essential for the trafficking of proteins and vesicles to the photoreceptor outer segment. Using the AAV serotype AAV7m8 to deliver a human LCA5 cDNA into an Lca5 null mouse model of LCA5, we show partial rescue of retinal structure and visual function. Specifically, we observed restoration of rod-and-cone-driven electroretinograms in about 25% of injected eyes, restoration of pupillary light responses in the majority of treated eyes, an ∼20-fold decrease in target "],"journal":["Molecular therapy : the journal of the American Society of Gene Therapy"],"pubmed_title":["Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness."],"pmcid":["PMC5986734"],"funding_grant_id":["P30 EY001583","8DP1EY023177","R24 EY019861","1R24 EY019861-01A1","DP1 EY023177"],"pubmed_authors":["Aleman TS","Cremers FPM","Pham J","den Hollander AI","McNamara I","Nishina P","Aravand P","Bennett DJ","Wei Z","Song JY","Lyubarsky A","Sun J","Pan W","de Melo J","Zhou S","Maguire AM","Roepman R","Herrera P","Bennett J","Mills J","Pan J","Shpylchak I","Nikonov S","Ying GS","Bennicelli JL","Leo L","Koenekoop RK","Commins N"],"additional_accession":[]},"is_claimable":false,"name":"Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness.","description":"Most genetically distinct inherited retinal degenerations are primary photoreceptor degenerations. We selected a severe early onset form of Leber congenital amaurosis (LCA), caused by mutations in the gene LCA5, in order to test the efficacy of gene augmentation therapy for a ciliopathy. The LCA5-encoded protein, Lebercilin, is essential for the trafficking of proteins and vesicles to the photoreceptor outer segment. Using the AAV serotype AAV7m8 to deliver a human LCA5 cDNA into an Lca5 null mouse model of LCA5, we show partial rescue of retinal structure and visual function. Specifically, we observed restoration of rod-and-cone-driven electroretinograms in about 25% of injected eyes, restoration of pupillary light responses in the majority of treated eyes, an ∼20-fold decrease in target ","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018 Jun","modification":"2026-05-03T11:57:59.084Z","creation":"2019-07-24T07:13:17Z"},"accession":"S-EPMC5986734","cross_references":{"pubmed":["29673930"],"doi":["10.1016/j.ymthe.2018.03.015"]}}