| 1 | AOA1, APTX
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| Aprataxin localizes to mitochondria and preserves mitochondrial function.
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| Sykora P, Croteau DL, Bohr VA, Wilson DM 3rd.
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| Proc Natl Acad Sci U S A 108(18):7437-42. Epub 2011 Apr 18.
2011
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| 2 | AOA1, APTX
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| Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1.
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| Tada M, Yokoseki A, Sato T, Makifuchi T, Onodera O.
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| Adv Exp Med Biol 685:21-33. Review.PMID: 20687492 2010
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| 3 | AOA1, APTX
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| Defective DNA ligation during short-patch single-strand break repair in ataxia oculomotor apraxia 1.
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| Reynolds JJ, El-Khamisy SF, Katyal S, Clements P, McKinnon PJ, Caldecott KW.
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| Mol Cell Biol 29(5):1354-62. Epub 2008 Dec 22.PMID: 19103743 2009
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| 4 | AOA1, APTX
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| Molecular mechanism of DNA deadenylation by the neurological disease protein aprataxin.
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| Rass U, Ahel I, West SC.
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| J Biol Chem 283(49):33994-4001. Epub 2008 Oct 3.
2008
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| 5 | AOA1,APTX
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| Actions of aprataxin in multiple DNA repair pathways.
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| Rass U, Ahel I, West SC.
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| J Biol Chem 282(13):9469-74. Epub 2007 Feb 2. 2007
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| 6 | AOA1, APTX
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| [Mutation of the aprataxin gene presenting with Charcot-Marie-Tooth-like neuropathy and cerebellar ataxia]
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| Ochsner F, Le Ber I, Said G, Moreira MC, Michel P, Koenig M, Durr A, Brice A, Kuntzer T.
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| Rev Neurol (Paris) 161(3):331-6. French. 2005
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| 7 | AOA1, APTX
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| Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein.
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| Sano Y, Date H, Igarashi S, Onodera O, Oyake M, Takahashi T, Hayashi S, Morimatsu M, Takahashi H, Makifuchi T, Fukuhara N, Tsuji S.
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| Ann Neurol 55(2):241-9. 2004
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| 8 | AOA1, APTX
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| Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
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| Hirano M, Nishiwaki T, Kariya S, Furiya Y, Kawahara M, Ueno S.
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| Neurosci Lett 366(2):120-5. 2004
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| 9 | APTX, AOA1
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| Loss of function mechanism in aprataxin-related early-onset ataxia.
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| Hirano M, Furiya Y, Kariya S, Nishiwaki T, Ueno S.
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| Biochem Biophys Res Commun 322(2):380-6. 2004
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| 10 | AOA1, APTX, SCAN1, TDP1
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| DNA single-strand break repair and spinocerebellar ataxia.
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| Caldecott KW.
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| Cell 112(1):7-10. Review. 2003
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| 11 | AOA1, APTX
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| Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.
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| Le Ber I, Moreira MC, Rivaud-Pechoux S, Chamayou C, Ochsner F, Kuntzer T, Tardieu M, Said G, Habert MO, Demarquay G, Tannier C, Beis JM, Brice A, Koenig M, Durr A.
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| Brain 126(Pt 12):2761-72. Epub 2003 Sep 23. 2003
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| 12 | AOA1, APTX
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| Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity.
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| Moreira MC, Barbot C, Tachi N, Kozuka N, Mendonca P, Barros J, Coutinho P, Sequeiros J, Koenig M.
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| Am J Hum Genet 68(2):501-8. 2001
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| 13 | AOA1, APTX
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| Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.
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| Date H, Onodera O, Tanaka H, Iwabuchi K, Uekawa K, Igarashi S, Koike R, Hiroi T, Yuasa T, Awaya Y, Sakai T, Takahashi T, Nagatomo H, Sekijima Y, Kawachi I, Takiyama Y, Nishizawa M, Fukuhara N, Saito K, Sugano S, Tsuji S.
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| Nat Genet 29(2):184-8. 2001
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| 14 | AOA1, APTX
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| The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.
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| Moreira MC, Barbot C, Tachi N, Kozuka N, Uchida E, Gibson T, Mendonca P, Costa M, Barros J, Yanagisawa T, Watanabe M, Ikeda Y, Aoki M, Nagata T, Coutinho P, Sequeiros J, Koenig M.
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| Nat Genet 29(2):189-93. 2001
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| 15 | AOA1, AOA2
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| Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34.
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| Nemeth AH, Bochukova E, Dunne E, Huson SM, Elston J, Hannan MA, Jackson M, Chapman CJ, Taylor AM.
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| Am J Hum Genet 67(5):1320-6. 2000
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| 16 | AOA1, FXN
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| Linkage analysis of a new syndrome of autosomal recessive early onset ataxia associated with hypoalbuminemia.
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| Tanaka H, et al.
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| Am J Hum Genet 53 : 1088. 1993
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| 17 | AOA1, AOA2, APTX
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| Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia.
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| Aicardi J, Barbosa C, Andermann E, Andermann F, Morcos R, Ghanem Q, Fukuyama Y, Awaya Y, Moe P.
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| Ann Neurol 24(4):497-502. 1988
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