Article

Mouse models of <i>NADK2</i> deficiency analyzed for metabolic and gene expression changes to elucidate pathophysiology

2021-12-11

Abstract excerpt

NADK2 encodes the mitochondrial isoform of NAD Kinase, which phosphorylates nicotinamide adenine dinucleotide (NAD). Rare recessive mutations in human NADK2 are associated with a syndromic neurological mitochondrial disease that includes metabolic changes such as hyperlysinemia and 2,4 dienoyl CoA reductase (DECR) deficiency. However, the full pathophysiology resulting from NADK2 deficiency is not known. Here we...

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Literature Corpus work: c9dba213-307a-5e9f-9c1e-1b149ca37617
DOI: 10.1101/2021.12.10.472125

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