{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["23"],"submitter":["Argyriou C"],"funding":["Fonds de recherche du Québec Santé","Global Foundation for Peroxisomal Disorders","Canadian Institutes of Health Research"],"pubmed_abstract":["Patients with Zellweger spectrum disorder (ZSD) commonly present with vision loss due to mutations in <i>PEX</i> genes required for peroxisome assembly and function. Here, we evaluate <i>PEX1</i> retinal gene augmentation therapy in a mouse model of mild ZSD bearing the murine equivalent (PEX1-p[Gly844Asp]) of the most common human mutation. Experimental adeno-associated virus 8.cytomegalovirus.human PEX1.hemagglutinin (AAV8.CMV.<i>HsPEX1.HA</i>) and control AAV8.CMV.<i>EGFP</i> vectors were administered by subretinal injection in contralateral eyes of early (5-week-old)- or later (9-week-old)-stage retinopathy cohorts. HsPEX1.HA protein was expressed in the retina with no gross histologic side effects. Peroxisomal metabolic functions, assessed by retinal C26:0 lysophosphatidylcholine (lys"],"journal":["Molecular therapy. Methods & clinical development"],"pagination":["225-240"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8516995"],"repository":["biostudies-literature"],"pubmed_title":["AAV-mediated <i>PEX1</i> gene augmentation improves visual function in the PEX1-Gly844Asp mouse model for mild Zellweger spectrum disorder."],"pmcid":["PMC8516995"],"pubmed_authors":["Braverman NE","Omri S","Argyriou C","Hacia JG","Di Pietro E","Bennett J","Steele B","Song JY","McDougald DS","Lachapelle P","Bouchard JF","Polosa A","Cecyre B"],"additional_accession":[]},"is_claimable":false,"name":"AAV-mediated <i>PEX1</i> gene augmentation improves visual function in the PEX1-Gly844Asp mouse model for mild Zellweger spectrum disorder.","description":"Patients with Zellweger spectrum disorder (ZSD) commonly present with vision loss due to mutations in <i>PEX</i> genes required for peroxisome assembly and function. Here, we evaluate <i>PEX1</i> retinal gene augmentation therapy in a mouse model of mild ZSD bearing the murine equivalent (PEX1-p[Gly844Asp]) of the most common human mutation. Experimental adeno-associated virus 8.cytomegalovirus.human PEX1.hemagglutinin (AAV8.CMV.<i>HsPEX1.HA</i>) and control AAV8.CMV.<i>EGFP</i> vectors were administered by subretinal injection in contralateral eyes of early (5-week-old)- or later (9-week-old)-stage retinopathy cohorts. HsPEX1.HA protein was expressed in the retina with no gross histologic side effects. Peroxisomal metabolic functions, assessed by retinal C26:0 lysophosphatidylcholine (lys","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Dec","modification":"2026-05-07T22:24:54.093Z","creation":"2025-04-19T08:23:17.901Z"},"accession":"S-EPMC8516995","cross_references":{"pubmed":["34703844"],"doi":["10.1016/j.omtm.2021.09.002"]}}