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Items: 1 to 20 of 120

1.

A novel nonsense mutation in the APTX gene associated with delayed DNA single-strand break removal fails to enhance sensitivity to different genotoxic agents.

Crimella C, Cantoni O, Guidarelli A, Vantaggiato C, Martinuzzi A, Fiorani M, Azzolini C, Orso G, Bresolin N, Bassi MT.

Hum Mutat. 2011 Apr;32(4):E2118-33. doi: 10.1002/humu.21464. Epub 2011 Feb 8.

PMID:
21412945
2.

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. 2004 May 15;13(10):1081-93. Epub 2004 Mar 25.

PMID:
15044383
3.

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. 2010;685:21-33. Review.

PMID:
20687492
4.

DNA single-strand break repair is impaired in aprataxin-related ataxia.

Hirano M, Yamamoto A, Mori T, Lan L, Iwamoto TA, Aoki M, Shimada K, Furiya Y, Kariya S, Asai H, Yasui A, Nishiwaki T, Imoto K, Kobayashi N, Kiriyama T, Nagata T, Konishi N, Itoyama Y, Ueno S.

Ann Neurol. 2007 Feb;61(2):162-74.

PMID:
17315206
5.

Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.

Bohlega SA, Shinwari JM, Al Sharif LJ, Khalil DS, Alkhairallah TS, Al Tassan NA.

BMC Med Genet. 2011 Feb 16;12:27. doi: 10.1186/1471-2350-12-27.

6.

Short-patch single-strand break repair in ataxia oculomotor apraxia-1.

Reynolds JJ, El-Khamisy SF, Caldecott KW.

Biochem Soc Trans. 2009 Jun;37(Pt 3):577-81. doi: 10.1042/BST0370577. Review.

PMID:
19442253
7.

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. 2004 Feb;55(2):241-9.

PMID:
14755728
8.
9.

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, Mendonça P, Costa M, Barros J, Yanagisawa T, Watanabe M, Ikeda Y, Aoki M, Nagata T, Coutinho P, Sequeiros J, Koenig M.

Nat Genet. 2001 Oct;29(2):189-93.

PMID:
11586300
10.

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. 2007;35(11):3797-809. Epub 2007 May 22.

11.

Synergistic decrease of DNA single-strand break repair rates in mouse neural cells lacking both Tdp1 and aprataxin.

El-Khamisy SF, Katyal S, Patel P, Ju L, McKinnon PJ, Caldecott KW.

DNA Repair (Amst). 2009 Jun 4;8(6):760-6. doi: 10.1016/j.dnarep.2009.02.002. Epub 2009 Mar 19.

12.

Structure of an aprataxin-DNA complex with insights into AOA1 neurodegenerative disease.

Tumbale P, Appel CD, Kraehenbuehl R, Robertson PD, Williams JS, Krahn J, Ahel I, Williams RS.

Nat Struct Mol Biol. 2011 Oct 9;18(11):1189-95. doi: 10.1038/nsmb.2146.

13.

Early-onset ataxia with oculomotor apraxia with a novel APTX mutation.

Ito A, Yamagata T, Mori M, Momoi MY.

Pediatr Neurol. 2005 Jul;33(1):53-6.

PMID:
15876520
14.

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. 2005 Feb;62(4):485-91.

PMID:
15719174
15.

Actions of aprataxin in multiple DNA repair pathways.

Rass U, Ahel I, West SC.

J Biol Chem. 2007 Mar 30;282(13):9469-74. Epub 2007 Feb 2.

16.

The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4.

Clements PM, Breslin C, Deeks ED, Byrd PJ, Ju L, Bieganowski P, Brenner C, Moreira MC, Taylor AM, Caldecott KW.

DNA Repair (Amst). 2004 Nov 2;3(11):1493-502.

PMID:
15380105
17.

Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.

Castellotti B, Mariotti C, Rimoldi M, Fancellu R, Plumari M, Caimi S, Uziel G, Nardocci N, Moroni I, Zorzi G, Pareyson D, Di Bella D, Di Donato S, Taroni F, Gellera C.

Neurogenetics. 2011 Aug;12(3):193-201. doi: 10.1007/s10048-011-0281-x. Epub 2011 Apr 5.

PMID:
21465257
18.

[DNA repair and neurodegeneration].

Onodera O.

Rinsho Shinkeigaku. 2005 Nov;45(11):979-81. Japanese.

PMID:
16447779
19.

[Autosomal recessive cerebellar ataxias with oculomotor apraxia].

Le Ber I, Rivaud-Péchoux S, Brice A, Dürr A.

Rev Neurol (Paris). 2006 Feb;162(2):177-84. Review. French.

PMID:
16518257
20.

Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis.

D'Arrigo S, Riva D, Bulgheroni S, Chiapparini L, Castellotti B, Gellera C, Pantaleoni C.

J Child Neurol. 2008 Aug;23(8):895-900. doi: 10.1177/0883073808314959. Epub 2008 Apr 10.

PMID:
18403580

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