Ontology highlight
ABSTRACT:
SUBMITTER: Fang EF
PROVIDER: S-EPMC4625837 | biostudies-literature | 2014 May
REPOSITORIES: biostudies-literature
Cell 20140501 4
Mitochondrial dysfunction is a common feature in neurodegeneration and aging. We identify mitochondrial dysfunction in xeroderma pigmentosum group A (XPA), a nucleotide excision DNA repair disorder with severe neurodegeneration, in silico and in vivo. XPA-deficient cells show defective mitophagy with excessive cleavage of PINK1 and increased mitochondrial membrane potential. The mitochondrial abnormalities appear to be caused by decreased activation of the NAD(+)-SIRT1-PGC-1α axis triggered by h ...[more]