title: Oxidative and energy metabolism as potential clues for clinical heterogeneity in nucleotide excision repair disorders.
abstract: 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), cerebro-oculo-facio-skeletal (COFS) syndrome, UV-sensitive syndrome (UVSS), 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 homeostasis. The potential causative role of these factors in the large clinical spectrum seen in NER diseases is discussed in this review.
authors.affiliation: Inserm U1035, Bordeaux, France; Université de Bordeaux, Bordeaux, France.
authors.forename: Mohsen
authors.initials: M
authors.lastname: Hosseini
authors.affiliation: Inserm U1035, Bordeaux, France; Université de Bordeaux, Bordeaux, France; Centre de Référence pour les Maladies Rares de la Peau, CHU de Bordeaux, Bordeaux, France; Département de Dermatologie & Dermatologie Pédiatrique, CHU de Bordeaux, Bordeaux, France.
authors.forename: Khaled
authors.initials: K
authors.lastname: Ezzedine
authors.affiliation: Inserm U1035, Bordeaux, France; Université de Bordeaux, Bordeaux, France; Centre de Référence pour les Maladies Rares de la Peau, CHU de Bordeaux, Bordeaux, France; Département de Dermatologie & Dermatologie Pédiatrique, CHU de Bordeaux, Bordeaux, France.
authors.forename: Alain
authors.initials: A
authors.lastname: Taieb
authors.affiliation: Inserm U1035, Bordeaux, France; Université de Bordeaux, Bordeaux, France; Centre de Référence pour les Maladies Rares de la Peau, CHU de Bordeaux, Bordeaux, France. Electronic address: hamid-reza.rezvani@u-bordeaux.fr.
authors.forename: Hamid R
authors.initials: HR
authors.lastname: Rezvani
mesh_terms: D000975:Antioxidants / Q000627:therapeutic use; D003057:Cockayne Syndrome / Q000235:genetics / Q000378:metabolism; D004260:DNA Repair; D004734:Energy Metabolism; D006801:Humans; D010084:Oxidation-Reduction; D010787:Photosensitivity Disorders / Q000235:genetics / Q000378:metabolism; D054463:Trichothiodystrophy Syndromes / Q000235:genetics / Q000378:metabolism; D014983:Xeroderma Pigmentosum / Q000235:genetics / Q000378:metabolism
chemical_list: D000975:Antioxidants