Physiological consequences of defects in ERCC1–XPF DNA repair endonuclease
SQ Gregg, AR Robinson, LJ Niedernhofer - DNA repair, 2011 - Elsevier
ERCC1–XPF is a structure-specific endonuclease required for nucleotide excision repair,
interstrand crosslink repair, and the repair of some double-strand breaks. Mutations in
ERCC1 or XPF cause xeroderma pigmentosum, XFE progeroid syndrome or cerebro-oculo-
facio-skeletal syndrome, characterized by increased risk of cancer, accelerated aging and
severe developmental abnormalities, respectively. This review provides a comprehensive
overview of the health impact of ERCC1–XPF deficiency, based on these rare diseases and …
interstrand crosslink repair, and the repair of some double-strand breaks. Mutations in
ERCC1 or XPF cause xeroderma pigmentosum, XFE progeroid syndrome or cerebro-oculo-
facio-skeletal syndrome, characterized by increased risk of cancer, accelerated aging and
severe developmental abnormalities, respectively. This review provides a comprehensive
overview of the health impact of ERCC1–XPF deficiency, based on these rare diseases and …