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References

These sources were used to develop the Genetics Home Reference gene summary on the APTX gene.

Entrez Gene
Hirano M, Asai H, Kiriyama T, Furiya Y, Iwamoto T, Nishiwaki T, Yamamoto A, Mori T, Ueno S. Short half-lives of ataxia-associated aprataxin proteins in neuronal cells. Neurosci Lett. 2007 May 29;419(2):184-7. Epub 2007 Apr 25. PubMed citation
Le Ber I, Moreira MC, Rivaud-Péchoux S, Chamayou C, Ochsner F, Kuntzer T, Tardieu M, Saïd G, Habert MO, Demarquay G, Tannier C, Beis JM, Brice A, Koenig M, Dürr A. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain. 2003 Dec;126(Pt 12):2761-72. Epub 2003 Sep 23. PubMed citation
OMIM: APRATAXIN
Rass U, Ahel I, West SC. Actions of aprataxin in multiple DNA repair pathways. J Biol Chem. 2007 Mar 30;282(13):9469-74. Epub 2007 Feb 2. PubMed citation
Takahashi T, Tada M, Igarashi S, Koyama A, Date H, Yokoseki A, Shiga A, Yoshida Y, Tsuji S, Nishizawa M, Onodera O. Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends. Nucleic Acids Res. 2007;35(11):3797-809. Epub 2007 May 22. PubMed citation

Reviewed: June 2008

Published: May 20, 2013