Ontology highlight
ABSTRACT:
SUBMITTER: Suraweera A
PROVIDER: S-EPMC2064358 | biostudies-literature | 2007 Jun
REPOSITORIES: biostudies-literature
The Journal of cell biology 20070611 6
A defective response to DNA damage is observed in several human autosomal recessive ataxias with oculomotor apraxia, including ataxia-telangiectasia. We report that senataxin, defective in ataxia oculomotor apraxia (AOA) type 2, is a nuclear protein involved in the DNA damage response. AOA2 cells are sensitive to H2O2, camptothecin, and mitomycin C, but not to ionizing radiation, and sensitivity was rescued with full-length SETX cDNA. AOA2 cells exhibited constitutive oxidative DNA damage and en ...[more]