Annotation Detail
Information
- Associated Genes
- PARP1
- Associated Variants
-
PARP1 MUTATION
PARP1 MUTATION - Associated Disease
- Mitochondrial Diseases
- Source Database
- DisGeNET
- Description
- Recent studies report that increased availability of intracellular NAD obtained by inhibition of the NAD-consuming enzyme poly(ADP-ribose) polymerase (PARP)-1 or supplementation with the NAD-precursor nicotinamide riboside (NR) ameliorates energetic derangement and symptoms in mouse models of mitochondrial disorders.
- Pubmed
- 25788480
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs