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  • Title: Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease.
    Author: Gregg SQ, Robinson AR, Niedernhofer LJ.
    Journal: DNA Repair (Amst); 2011 Jul 15; 10(7):781-91. PubMed ID: 21612988.
    Abstract:
    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 mouse models of them. This offers an understanding of the tremendous health impact of DNA damage derived from environmental and endogenous sources.
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