Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin.

@article{Seidle2005DiseaseassociatedMI,
  title={Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin.},
  author={Heather F. Seidle and Pawel Bieganowski and Charles Brenner},
  journal={The Journal of biological chemistry},
  year={2005},
  volume={280 22},
  pages={
          20927-31
        }
}
Ataxia-oculomotor apraxia syndrome 1 is an early onset cerebellar ataxia that results from loss of function mutations in the APTX gene, encoding Aprataxin, which contains three conserved domains. The forkhead-associated domain of Aprataxin mediates protein-protein interactions with molecules that respond to DNA damage, but the cellular phenotype of the disease does not appear to be consistent with a major loss in DNA damage responses. Disease-associated mutations in Aprataxin target a histidine… CONTINUE READING

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