| 1 | APTX, XRCC1
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| XRCC1 phosphorylation affects aprataxin recruitment and DNA deadenylation activity.
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| Horton JK, Stefanick DF, Çağlayan M, Zhao ML, Janoshazi AK, Prasad R, Gassman NR, Wilson SH.
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| DNA Repair (Amst) 64:26-33. doi: 10.1016/j.dnarep.2018.02.004. Epub 2018 Feb 15.
2018
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| 2 | APTX, TDP1
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| The role of TDP1 and APTX in mitochondrial DNA repair.
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| Meagher M, Lightowlers RN.
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| Biochimie 100:121-4. doi: 10.1016/j.biochi.2013.10.011. Epub 2013 Oct 22. Review.
2014
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| 3 | APTX, TDP1
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| The role of TDP1 and APTX in mitochondrial DNA repair.
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| Meagher M, Lightowlers RN.
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| Biochimie 100:121-4. doi: 10.1016/j.biochi.2013.10.011. Epub 2013 Oct 22. Review.
2014
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| 4 | 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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| 5 | 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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| 6 | APTX
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| Genetic interactions between HNT3/Aprataxin and RAD27/FEN1 suggest parallel pathways for 5' end processing during base excision repair.
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| Daley JM, Wilson TE, Ramotar D.
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| DNA Repair (Amst) 9(6):690-9. Epub 2010 Apr 15.PMID: 2039915 2010
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| 7 | APEX1, APTX, PARP1
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| Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage.
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| Harris JL, Jakob B, Taucher-Scholz G, Dianov GL, Becherel OJ, Lavin MF.
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| Hum Mol Genet 18(21):4102-17. Epub 2009 Jul 30.PMID: 19643912 2009
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| 8 | 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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| 9 | 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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| 10 | 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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| 11 | APTX
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| Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends.
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| Takahashi T, Tada M, Igarashi S, Koyama A, Date H, Yokoseki A, Shiga A, Yoshida Y, Tsuji S, Nishizawa M, Onodera O.
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| Nucleic Acids Res 35(11):3797-809. Epub 2007 May 22. 2007
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| 12 | NHEJ1, APTX
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| XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining.
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| Ahnesorg P, Smith P, Jackson SP.
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| Cell 124(2):301-13. 2006
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| 13 | APTX, NCL
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| Nucleolar localization of aprataxin is dependent on interaction with nucleolin and on active ribosomal DNA transcription.
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| Becherel OJ, Gueven N, Birrell GW, Schreiber V, Suraweera A, Jakob B, Taucher-Scholz G, Lavin MF.
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| Hum Mol Genet 15(14):2239-49. Epub 2006 Jun 15. 2006
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| 14 | APTX
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| The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates.
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| Ahel I, Rass U, El-Khamisy SF, Katyal S, Clements PM, McKinnon PJ, Caldecott KW, West SC.
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| Nature 443(7112):713-6. Epub 2006 Sep 10. 2006
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| 15 | APTX
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| The novel human gene aprataxin is directly involved in DNA single-strand-break repair.
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| Mosesso P, Piane M, Palitti F, Pepe G, Penna S, Chessa L.
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| Cell Mol Life Sci 62(4):485-91. 2005
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| 16 | 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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| 17 | APTX, XRCC1, TP53, PARP1
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| Aprataxin, a novel protein that protects against genotoxic stress.
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| Gueven N, Becherel OJ, Kijas AW, Chen P, Howe O, Rudolph JH, Gatti R, Date H, Onodera O, Taucher-Scholz G, Lavin MF.
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| Hum Mol Genet 13(10):1081-93. Epub 2004 Mar 25. 2004
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| 18 | 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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| 19 | 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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| 20 | 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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| 21 | PARP1, XRCC1, APTX
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| The FHA domain of aprataxin interacts with the C-terminal region of XRCC1.
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| Date H, Igarashi S, Sano Y, Takahashi T, Takahashi T, Takano H, Tsuji S, Nishizawa M, Onodera O.
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| Biochem Biophys Res Commun 325(4):1279-85. 2004
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| 22 | AOA1, APTX, SCAN1, TDP1
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| DNA single-strand break repair and spinocerebellar ataxia.
|
| Caldecott KW.
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| Cell 112(1):7-10. Review. 2003
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| 23 | 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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| 24 | 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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| 25 | 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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| 26 | 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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| 27 | 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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