{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["29"],"submitter":["Brown EE"],"pubmed_abstract":["Nicotinamide nucleotide adenylyltransferase 1 (NMNAT1) is a ubiquitously expressed enzyme involved in nuclear NAD<sup>+</sup> production throughout the body. However, mutations in the <i>NMNAT1</i> gene lead to retina-specific disease with few reports of systemic effects. We have previously demonstrated that AAV-mediated gene therapy using self-complementary AAV (scAAV) to ubiquitously express NMNAT1 throughout the retina prevents retinal degeneration in a mouse model of <i>NMNAT1</i>-associated disease. We aimed to develop a better understanding of the cell types in the retina that contribute to disease pathogenesis in <i>NMNAT1</i>-associated disease, and to identify the cell types that require NMNAT1 expression for therapeutic benefit. To achieve this goal, we treated <i>Nmnat1</i><sup>"],"journal":["Molecular therapy. Methods & clinical development"],"pagination":["319-328"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10193288"],"repository":["biostudies-literature"],"pubmed_title":["Expression of NMNAT1 in the photoreceptors is sufficient to prevent <i>NMNAT1</i>-associated retinal degeneration."],"pmcid":["PMC10193288"],"pubmed_authors":["Scandura MJ","Brown EE","Pierce EA"],"additional_accession":[]},"is_claimable":false,"name":"Expression of NMNAT1 in the photoreceptors is sufficient to prevent <i>NMNAT1</i>-associated retinal degeneration.","description":"Nicotinamide nucleotide adenylyltransferase 1 (NMNAT1) is a ubiquitously expressed enzyme involved in nuclear NAD<sup>+</sup> production throughout the body. However, mutations in the <i>NMNAT1</i> gene lead to retina-specific disease with few reports of systemic effects. We have previously demonstrated that AAV-mediated gene therapy using self-complementary AAV (scAAV) to ubiquitously express NMNAT1 throughout the retina prevents retinal degeneration in a mouse model of <i>NMNAT1</i>-associated disease. We aimed to develop a better understanding of the cell types in the retina that contribute to disease pathogenesis in <i>NMNAT1</i>-associated disease, and to identify the cell types that require NMNAT1 expression for therapeutic benefit. To achieve this goal, we treated <i>Nmnat1</i><sup>","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Jun","modification":"2025-04-04T23:44:34.358Z","creation":"2025-04-04T23:44:34.358Z"},"accession":"S-EPMC10193288","cross_references":{"pubmed":["37214313"],"doi":["10.1016/j.omtm.2023.04.003"]}}