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PMID: 12526788 Published · ppublish English Journal Article Review

DNA single-strand break repair and spinocerebellar ataxia.

Cell ·Vol. 112 ·No. 1 ·2003-01-10 ·Pages 7-10

Caldecott KW

Abstract

DNA single-strand break repair (SSBR) is critical for the survival and genetic stability of mammalian cells. Three papers have recently associated mutations in putative human SSBR genes with hereditary spinocerebellar ataxia. The emerging links between SSBR and neurodegenerative disorders are discussed.

MeSH Terms
Amino Acid Sequence Cell Death Conserved Sequence DNA Damage/genetics DNA Repair/genetics DNA Topoisomerases, Type I/metabolism DNA, Single-Stranded DNA-Binding Proteins/chemistry,genetics Gene Expression Regulation Humans Models, Genetic Molecular Sequence Data Mutation Neurodegenerative Diseases/genetics,physiopathology Nuclear Proteins/chemistry,genetics Polynucleotide 5'-Hydroxyl-Kinase/chemistry,genetics Protein Structure, Tertiary Sequence Homology, Amino Acid Spinocerebellar Ataxias/genetics,physiopathology
Chemicals
APTX protein, human DNA, Single-Stranded DNA-Binding Proteins Nuclear Proteins Polynucleotide 5'-Hydroxyl-Kinase DNA Topoisomerases, Type I
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Caldecott Keith W
Genome Damage and Stability Centre, University of Sussex, Science Park Road, Falmer, Brighton, BN1 9RQ, United Kingdom. k.w.caldicott@sussex.ac.uk
Article Info
Journal
Cell
Abbr.
Cell
ISSN
0092-8674
Published
2003-01-10
Pages
7-10
Language
English
Region
United States
NLM ID
0413066
Subset
IM
Grants
Medical Research Council · G0001259 · United Kingdom
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