Article
Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients.
PLoS genetics - 5 Mar 2010
Ahmad Anwaar, Enzlin Jacqueline H, Bhagwat Nikhil R, Wijgers Nils, Raams Anja, Appledoorn Esther, Theil Arjan F, J Hoeijmakers Jan H, Vermeulen Wim, J Jaspers Nicolaas G, Schärer Orlando D, Niedernhofer Laura J
Abstract excerpt
Xeroderma pigmentosum (XP) is caused by defects in the nucleotide excision repair (NER) pathway. NER removes helix-distorting DNA lesions, such as UV-induced photodimers, from the genome. Patients suffering from XP exhibit exquisite sun sensitivity, high incidence of skin cancer, and in some cases neurodegeneration. The severity of XP varies tremendously depending upon which NER gene is mutated and how severely...
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