Aprataxin, a novel protein that protects against genotoxic stress.

  title={Aprataxin, a novel protein that protects against genotoxic stress.},
  author={Nuri Gueven and Olivier J. Becherel and Amanda Wraith Kijas and Philip Kuo-Tin Chen and Orla Howe and Jeanette Heede Rudolph and Richard A. Gatti and Hidetoshi Date and Osamu Onodera and Gisela Taucher-Scholz and Martin Francis Lavin},
  journal={Human molecular genetics},
  volume={13 10},
Ataxia-oculomotor apraxia (AOA1) is a neurological disorder with symptoms that overlap those of ataxia-telangiectasia, a syndrome characterized by abnormal responses to double-strand DNA breaks and genome instability. The gene mutated in AOA1, APTX, is predicted to code for a protein called aprataxin that contains domains of homology with proteins involved in DNA damage signalling and repair. We demonstrate that aprataxin is a nuclear protein, present in both the nucleoplasm and the nucleolus… CONTINUE READING
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