Journal
JOURNAL OF INVESTIGATIVE DERMATOLOGY
Volume 135, Issue 2, Pages 341-351Publisher
ELSEVIER SCIENCE INC
DOI: 10.1038/jid.2014.365
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Funding
- ARC Association pour la Recherche sur le Cancer
- Fondation Maladies Rares
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Nucleotide excision repair (NER) is an important DNA repair pathway involved in the removal of a wide array of DNA lesions. The absence or dysfunction of NER results in the following distinct disorders: xeroderma pigmentosum (XP), Cockayne syndrome (CS), cerebrooculo-facio-skeletal (COFS) syndrome, UV-sensitive syndrome ((UVS)-S-S), trichothiodystrophy (TTD), or combined syndromes including XP/CS, XP/TTD, CS/TTD, and COFS/TTD. In addition to their well-characterized role in the NER signaling pathway, NER factors also seem to be important in biological processes that are not directly associated with DNA damage responses, including mitochondrial function and redox home-ostasis. The potential causative role of these factors in the large clinical spectrum seen in NER diseases is discussed in this review.
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