biostudies-literatureUnknown29Brown EENicotinamide nucleotide adenylyltransferase 1 (NMNAT1) is a ubiquitously expressed enzyme involved in nuclear NAD⁺ 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>Molecular therapy. Methods & clinical development319-328https://www.ebi.ac.uk/biostudies/studies/S-EPMC10193288biostudies-literatureExpression of NMNAT1 in the photoreceptors is sufficient to prevent <i>NMNAT1</i>-associated retinal degeneration.PMC10193288Scandura MJBrown EEPierce EAfalseExpression of NMNAT1 in the photoreceptors is sufficient to prevent <i>NMNAT1</i>-associated retinal degeneration.Nicotinamide nucleotide adenylyltransferase 1 (NMNAT1) is a ubiquitously expressed enzyme involved in nuclear NAD⁺ 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>2023-01-01T00:00:00Z2023 Jun2025-04-04T23:44:34.358Z2025-04-04T23:44:34.358ZS-EPMC101932883721431310.1016/j.omtm.2023.04.003