Neurodegeneration in xeroderma pigmentosum

Brain

Volumn 131, Issue 8, 2008, Pages 1967-1968

  Taylor, A M R ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

XERODERMA PIGMENTOSUM GROUP A PROTEIN;

ATAXIA TELANGIECTASIA; BRAIN DISEASE; COGNITIVE DEFECT; DISEASE SEVERITY; DNA DAMAGE; DNA REPAIR; DYSARTHRIA; DYSPHAGIA; GENE MUTATION; GENETIC TRANSCRIPTION; HUMAN; MICROCEPHALY; NERVE DEGENERATION; NEUROPATHY; NOTE; OXIDATIVE STRESS; PRIORITY JOURNAL; PYRAMIDAL TRACT; SYMPTOMATOLOGY; XERODERMA PIGMENTOSUM;

ADOLESCENT; ADULT; AGING; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; HUMANS; INFANT; INFANT, NEWBORN; NERVE DEGENERATION; PROSPECTIVE STUDIES; XERODERMA PIGMENTOSUM;

EID: 49449084628     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awn153     Document Type: Note

References (7)

1. Andrews AD, Barrett SF, Robbins JH. Xeroderma pigmentosum neurological abnormalities correlate with the colony forming ability after ultra violet irradiation. Proc Natl Acad Sci USA 1978; 75: 1984-8.
2. Brooks PJ. The case for 8,5′-cyclopurine-2′-deoxynucleosides as endogenous DNA lesions that cause neurodegeneration in xeroderma pigmentosum. Neuroscience 2007; 145: 1407-17.
3. Cleaver JE. Cancer in xeroderma pigmentosum and related disorders of DNA repair. Nat Rev Cancer 2005; 5: 564-73.
4. Friedberg EC, Wood RD. New insights into the combined Cockayne/xeroderma pigmentosum complex: human XPG protein can function in transcription factor stability. Mol Cell 2007; 26: 162-4.
5. Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum. Cutaneous, ocular and neurologic abnormalities in 830 published cases. Arch Dermatol 1987; 123: 241-50.
6. Lehmann AR. DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy (Review). Biochimie 2003; 85: 1101-11.
7. McKinnon PJ, Caldecott KW. DNA strand break repair and human genetic disease (Review). Annu Rev Genomics Hum Genet 2007; 8: 37-55.