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Items: 1 to 20 of 115

1.

Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.

Fogel BL, Cho E, Wahnich A, Gao F, Becherel OJ, Wang X, Fike F, Chen L, Criscuolo C, De Michele G, Filla A, Collins A, Hahn AF, Gatti RA, Konopka G, Perlman S, Lavin MF, Geschwind DH, Coppola G.

Hum Mol Genet. 2014 Sep 15;23(18):4758-69. doi: 10.1093/hmg/ddu190. Epub 2014 Apr 23.

2.

"Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2).

Schöls L, Arning L, Schüle R, Epplen JT, Timmann D.

J Neurol. 2008 Apr;255(4):495-501. doi: 10.1007/s00415-008-0707-z. Epub 2008 Mar 20.

PMID:
18350359
3.

Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage.

Roda RH, Rinaldi C, Singh R, Schindler AB, Blackstone C.

J Clin Neurosci. 2014 Sep;21(9):1627-31. doi: 10.1016/j.jocn.2013.11.048. Epub 2014 May 6.

4.
5.

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

Anheim M, Monga B, Fleury M, Charles P, Barbot C, Salih M, Delaunoy JP, Fritsch M, Arning L, Synofzik M, Schöls L, Sequeiros J, Goizet C, Marelli C, Le Ber I, Koht J, Gazulla J, De Bleecker J, Mukhtar M, Drouot N, Ali-Pacha L, Benhassine T, Chbicheb M, M'Zahem A, Hamri A, Chabrol B, Pouget J, Murphy R, Watanabe M, Coutinho P, Tazir M, Durr A, Brice A, Tranchant C, Koenig M.

Brain. 2009 Oct;132(Pt 10):2688-98. doi: 10.1093/brain/awp211. Epub 2009 Aug 20.

PMID:
19696032
6.

Senataxin modulates neurite growth through fibroblast growth factor 8 signalling.

Vantaggiato C, Bondioni S, Airoldi G, Bozzato A, Borsani G, Rugarli EI, Bresolin N, Clementi E, Bassi MT.

Brain. 2011 Jun;134(Pt 6):1808-28. doi: 10.1093/brain/awr084. Epub 2011 May 15.

PMID:
21576111
7.

In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome.

Bassuk AG, Chen YZ, Batish SD, Nagan N, Opal P, Chance PF, Bennett CL.

Neurogenetics. 2007 Jan;8(1):45-9. Epub 2006 Nov 10.

PMID:
17096168
8.

SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.

Nanetti L, Cavalieri S, Pensato V, Erbetta A, Pareyson D, Panzeri M, Zorzi G, Antozzi C, Moroni I, Gellera C, Brusco A, Mariotti C.

Orphanet J Rare Dis. 2013 Aug 14;8:123. doi: 10.1186/1750-1172-8-123.

9.

Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide.

Bennett CL, Chen Y, Vignali M, Lo RS, Mason AG, Unal A, Huq Saifee NP, Fields S, La Spada AR.

PLoS One. 2013 Nov 11;8(11):e78837. doi: 10.1371/journal.pone.0078837. eCollection 2013.

10.

A new model to study neurodegeneration in ataxia oculomotor apraxia type 2.

Becherel OJ, Sun J, Yeo AJ, Nayler S, Fogel BL, Gao F, Coppola G, Criscuolo C, De Michele G, Wolvetang E, Lavin MF.

Hum Mol Genet. 2015 Oct 15;24(20):5759-74. doi: 10.1093/hmg/ddv296. Epub 2015 Jul 30.

11.

Senataxin plays an essential role with DNA damage response proteins in meiotic recombination and gene silencing.

Becherel OJ, Yeo AJ, Stellati A, Heng EY, Luff J, Suraweera AM, Woods R, Fleming J, Carrie D, McKinney K, Xu X, Deng C, Lavin MF.

PLoS Genet. 2013 Apr;9(4):e1003435. doi: 10.1371/journal.pgen.1003435. Epub 2013 Apr 11.

12.

Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation.

Suraweera A, Lim Y, Woods R, Birrell GW, Nasim T, Becherel OJ, Lavin MF.

Hum Mol Genet. 2009 Sep 15;18(18):3384-96. doi: 10.1093/hmg/ddp278. Epub 2009 Jun 10.

PMID:
19515850
13.

Altered translational repression of an RNA-binding protein, Elav by AOA2-causative Senataxin mutation.

Choudhury SD, Vs A, Mushtaq Z, Kumar V.

Synapse. 2017 May;71(5). doi: 10.1002/syn.21969. Epub 2017 Mar 9.

PMID:
28245518
14.

Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study.

Criscuolo C, Chessa L, Di Giandomenico S, Mancini P, Saccà F, Grieco GS, Piane M, Barbieri F, De Michele G, Banfi S, Pierelli F, Rizzuto N, Santorelli FM, Gallosti L, Filla A, Casali C.

Neurology. 2006 Apr 25;66(8):1207-10.

PMID:
16636238
15.

A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2).

Nakamura K, Yoshida K, Makishita H, Kitamura E, Hashimoto S, Ikeda S.

J Hum Genet. 2009 Dec;54(12):746-8. doi: 10.1038/jhg.2009.104. Epub 2009 Nov 6.

PMID:
19893583
16.

Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin.

Airoldi G, Guidarelli A, Cantoni O, Panzeri C, Vantaggiato C, Bonato S, Grazia D'Angelo M, Falcone S, De Palma C, Tonelli A, Crimella C, Bondioni S, Bresolin N, Clementi E, Bassi MT.

Neurogenetics. 2010 Feb;11(1):91-100. doi: 10.1007/s10048-009-0206-0. Epub 2009 Jul 11.

PMID:
19593598
17.

Unwinding the role of senataxin in neurodegeneration.

Bennett CL, La Spada AR.

Discov Med. 2015 Feb;19(103):127-36. Review.

18.

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.

19.

Senataxin suppresses the antiviral transcriptional response and controls viral biogenesis.

Miller MS, Rialdi A, Ho JS, Tilove M, Martinez-Gil L, Moshkina NP, Peralta Z, Noel J, Melegari C, Maestre AM, Mitsopoulos P, Madrenas J, Heinz S, Benner C, Young JA, Feagins AR, Basler CF, Fernandez-Sesma A, Becherel OJ, Lavin MF, van Bakel H, Marazzi I.

Nat Immunol. 2015 May;16(5):485-94. doi: 10.1038/ni.3132. Epub 2015 Mar 30.

20.

The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases.

Arning L, Epplen JT, Rahikkala E, Hendrich C, Ludolph AC, Sperfeld AD.

Neurogenetics. 2013 Feb;14(1):53-61. doi: 10.1007/s10048-012-0347-4. Epub 2012 Nov 6.

PMID:
23129421

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