Citations for
1APTX, XRCC1
XRCC1 phosphorylation affects aprataxin recruitment and DNA deadenylation activity.
Horton JK, Stefanick DF, Çağlayan M, Zhao ML, Janoshazi AK, Prasad R, Gassman NR, Wilson SH.
DNA Repair (Amst) 64:26-33. doi: 10.1016/j.dnarep.2018.02.004. Epub 2018 Feb 15. 2018
2APTX, TDP1
The role of TDP1 and APTX in mitochondrial DNA repair.
Meagher M, Lightowlers RN.
Biochimie 100:121-4. doi: 10.1016/j.biochi.2013.10.011. Epub 2013 Oct 22. Review. 2014
3APTX, TDP1
The role of TDP1 and APTX in mitochondrial DNA repair.
Meagher M, Lightowlers RN.
Biochimie 100:121-4. doi: 10.1016/j.biochi.2013.10.011. Epub 2013 Oct 22. Review. 2014
4AOA1, APTX
Aprataxin localizes to mitochondria and preserves mitochondrial function.
Sykora P, Croteau DL, Bohr VA, Wilson DM 3rd.
Proc Natl Acad Sci U S A 108(18):7437-42. Epub 2011 Apr 18. 2011
5AOA1, APTX
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1.
Tada M, Yokoseki A, Sato T, Makifuchi T, Onodera O.
Adv Exp Med Biol 685:21-33. Review.PMID: 20687492 2010
6APTX
Genetic interactions between HNT3/Aprataxin and RAD27/FEN1 suggest parallel pathways for 5' end processing during base excision repair.
Daley JM, Wilson TE, Ramotar D.
DNA Repair (Amst) 9(6):690-9. Epub 2010 Apr 15.PMID: 2039915 2010
7APEX1, APTX, PARP1
Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage.
Harris JL, Jakob B, Taucher-Scholz G, Dianov GL, Becherel OJ, Lavin MF.
Hum Mol Genet 18(21):4102-17. Epub 2009 Jul 30.PMID: 19643912 2009
8AOA1, APTX
Defective DNA ligation during short-patch single-strand break repair in ataxia oculomotor apraxia 1.
Reynolds JJ, El-Khamisy SF, Katyal S, Clements P, McKinnon PJ, Caldecott KW.
Mol Cell Biol 29(5):1354-62. Epub 2008 Dec 22.PMID: 19103743 2009
9AOA1, APTX
Molecular mechanism of DNA deadenylation by the neurological disease protein aprataxin.
Rass U, Ahel I, West SC.
J Biol Chem 283(49):33994-4001. Epub 2008 Oct 3. 2008
10AOA1,APTX
Actions of aprataxin in multiple DNA repair pathways.
Rass U, Ahel I, West SC.
J Biol Chem 282(13):9469-74. Epub 2007 Feb 2. 2007
11APTX
Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends.
Takahashi T, Tada M, Igarashi S, Koyama A, Date H, Yokoseki A, Shiga A, Yoshida Y, Tsuji S, Nishizawa M, Onodera O.
Nucleic Acids Res 35(11):3797-809. Epub 2007 May 22. 2007
12NHEJ1, APTX
XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining.
Ahnesorg P, Smith P, Jackson SP.
Cell 124(2):301-13. 2006
13APTX, NCL
Nucleolar localization of aprataxin is dependent on interaction with nucleolin and on active ribosomal DNA transcription.
Becherel OJ, Gueven N, Birrell GW, Schreiber V, Suraweera A, Jakob B, Taucher-Scholz G, Lavin MF.
Hum Mol Genet 15(14):2239-49. Epub 2006 Jun 15. 2006
14APTX
The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates.
Ahel I, Rass U, El-Khamisy SF, Katyal S, Clements PM, McKinnon PJ, Caldecott KW, West SC.
Nature 443(7112):713-6. Epub 2006 Sep 10. 2006
15APTX
The novel human gene aprataxin is directly involved in DNA single-strand-break repair.
Mosesso P, Piane M, Palitti F, Pepe G, Penna S, Chessa L.
Cell Mol Life Sci 62(4):485-91. 2005
16AOA1, APTX
[Mutation of the aprataxin gene presenting with Charcot-Marie-Tooth-like neuropathy and cerebellar ataxia]
Ochsner F, Le Ber I, Said G, Moreira MC, Michel P, Koenig M, Durr A, Brice A, Kuntzer T.
Rev Neurol (Paris) 161(3):331-6. French. 2005
17APTX, XRCC1, TP53, PARP1
Aprataxin, a novel protein that protects against genotoxic stress.
Gueven N, Becherel OJ, Kijas AW, Chen P, Howe O, Rudolph JH, Gatti R, Date H, Onodera O, Taucher-Scholz G, Lavin MF.
Hum Mol Genet 13(10):1081-93. Epub 2004 Mar 25. 2004
18AOA1, APTX
Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein.
Sano Y, Date H, Igarashi S, Onodera O, Oyake M, Takahashi T, Hayashi S, Morimatsu M, Takahashi H, Makifuchi T, Fukuhara N, Tsuji S.
Ann Neurol 55(2):241-9. 2004
19AOA1, APTX
Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
Hirano M, Nishiwaki T, Kariya S, Furiya Y, Kawahara M, Ueno S.
Neurosci Lett 366(2):120-5. 2004
20APTX, AOA1
Loss of function mechanism in aprataxin-related early-onset ataxia.
Hirano M, Furiya Y, Kariya S, Nishiwaki T, Ueno S.
Biochem Biophys Res Commun 322(2):380-6. 2004
21PARP1, XRCC1, APTX
The FHA domain of aprataxin interacts with the C-terminal region of XRCC1.
Date H, Igarashi S, Sano Y, Takahashi T, Takahashi T, Takano H, Tsuji S, Nishizawa M, Onodera O.
Biochem Biophys Res Commun 325(4):1279-85. 2004
22AOA1, APTX, SCAN1, TDP1
DNA single-strand break repair and spinocerebellar ataxia.
Caldecott KW.
Cell 112(1):7-10. Review. 2003
23AOA1, APTX
Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.
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.
Brain 126(Pt 12):2761-72. Epub 2003 Sep 23. 2003
24AOA1, APTX
Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity.
Moreira MC, Barbot C, Tachi N, Kozuka N, Mendonca P, Barros J, Coutinho P, Sequeiros J, Koenig M.
Am J Hum Genet 68(2):501-8. 2001
25AOA1, APTX
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.
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.
Nat Genet 29(2):184-8. 2001
26AOA1, APTX
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.
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.
Nat Genet 29(2):189-93. 2001
27AOA1, AOA2, APTX
Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia.
Aicardi J, Barbosa C, Andermann E, Andermann F, Morcos R, Ghanem Q, Fukuyama Y, Awaya Y, Moe P.
Ann Neurol 24(4):497-502. 1988