Molecular mechanism of DNA deadenylation by the neurological disease protein aprataxin.

@article{Rass2008MolecularMO,
  title={Molecular mechanism of DNA deadenylation by the neurological disease protein aprataxin.},
  author={U. Rass and Ivan Ahel and Stephen C West},
  journal={The Journal of biological chemistry},
  year={2008},
  volume={283 49},
  pages={33994-4001}
}
The human neurological disease known as ataxia with oculomotor apraxia 1 is caused by mutations in the APTX gene that encodes Aprataxin (APTX) protein. APTX is a member of the histidine triad superfamily of nucleotide hydrolases and transferases but is distinct from other family members in that it acts upon DNA. The target of APTX is 5'-adenylates at DNA nicks or breaks that result from abortive DNA ligation reactions. In this work, we show that APTX acts as a nick sensor, which provides a… CONTINUE READING

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