Neurodegeneration: nicked to death.
Ataxia oculomotor apraxia-1 is a neurological disorder that arises from mutations in the gene encoding the protein aprataxin. A recent study demonstrates that aprataxin is critical for the processing of obstructive DNA termini, suggesting a broader role for DNA single-strand break repair in neurodegenerative disease.
Wilson
David M
DM
Laboratory of Molecular Gerontology, National Institute on Aging Intramural Research Program, Baltimore, Maryland, USA. wilsonda@grc.nia.nih.gov
Mattson
Mark P
MP
D016923:Cell Death / Q000502:physiology*; D002524:Cerebellar Ataxia / Q000235:genetics* / Q000503:physiopathology; D053904:DNA Breaks, Single-Stranded; D004260:DNA Repair; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000502:physiology; D006801:Humans; D009474:Neurons / Q000502:physiology; D009687:Nuclear Proteins / Q000235:genetics* / Q000502:physiology
C438188:APTX protein, human; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins