Article
Mutant Nmnat1 leads to a retina-specific decrease of NAD+ accompanied by increased poly(ADP-ribose) in a mouse model of NMNAT1-associated retinal degeneration.
Human molecular genetics - 17 May 2021
Greenwald Scott H, Brown Emily E, Scandura Michael J, Hennessey Erin, Farmer Raymond, Du Jianhai, Wang Yekai, Pierce Eric A
Abstract excerpt
Nicotinamide mononucleotide adenylyltransferase 1 (NMNAT1) is required for nuclear nicotinamide adenine mononucleotide (NAD+) biosynthesis in all nucleated cells, and despite its functional ubiquity, mutations in this gene lead to an isolated retinal degeneration. The mechanisms underlying how mutant NMNAT1 causes disease are not well understood, nor is the reason why the pathology is confined to the retina....
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