Abstract
Cockayne syndrome (CS) is a rare recessive disorder characterized by a number of developmental abnormalities and premature aging. Two complementation groups (A and B) have been identified so far in CS cases. Defective transcription-coupled nucleotide excision repair is the hallmark of these patients, but in recent years evidence has been presented for a possible defect in the base excision repair pathway that removes oxidized bases. Recent results indicate that both A and B complementation groups are involved but the phenotypical consequences of this flaw remain undetermined.
Original language | English |
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Pages (from-to) | 165-177 |
Number of pages | 13 |
Journal | Free Radical Biology and Medicine |
Volume | 43 |
Issue number | 2 |
DOIs | |
Publication status | Published - Jul 15 2007 |
Keywords
- 8-Oxo-7,8-dihydroguanine
- Aging
- Cockayne syndrome
- DNA base excision repair
- Free radicals
- Glycosylase
- Mutation
- Neurological deterioration
- Oxidative DNA damage
- Transcription-coupled repair
ASJC Scopus subject areas
- Medicine(all)
- Toxicology
- Clinical Biochemistry