• Mutation; HGNC; HGNC:15984; APTX; Simple; p.Pro206Leu (c.617C>T); ClinVar=VCV000004426; Zygosity=Homozygous (PubMed=15044383).
  

PubMed=15044383; DOI=10.1093/hmg/ddh122
Gueven N., Becherel O.J., Kijas A.W., Chen P., Howe O., Rudolph J.H., Gatti R.A., Date H., Onodera O., Taucher-Scholz G., Lavin M.F.
Aprataxin, a novel protein that protects against genotoxic stress.
Hum. Mol. Genet. 13:1081-1093(2004)

PubMed=17347666; DOI=10.1038/sj.cdd.4402116
Gueven N., Becherel O.J., Howe O., Chen P.-J., Haince J.-F., Ouellet M.-E., Poirier G.G., Waterhouse N., Fusser M., Epe B., Menissier-de Murcia J., de Murcia G., McGowan C.H., Parton R.G., Mothersill C., Grattan-Smith P.J., Lavin M.F.
A novel form of ataxia oculomotor apraxia characterized by oxidative stress and apoptosis resistance.
Cell Death Differ. 14:1149-1161(2007)

PubMed=17562789; DOI=10.1083/jcb.200701042; PMCID=PMC2064358
Suraweera A., Becherel O.J., Chen P., Rundle N., Woods R., Nakamura J., Gatei M., Criscuolo C., Filla A., Chessa L., Fusser M., Epe B., Gueven N., Lavin M.F.
Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage.
J. Cell Biol. 177:969-979(2007)

PubMed=19643912; DOI=10.1093/hmg/ddp359
Harris J.L., Jakob B., Taucher-Scholz G., Dianov G.L., Becherel O.J., Lavin M.F.
Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage.
Hum. Mol. Genet. 18:4102-4117(2009)