| 1 | ATXN3, MJD
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| Sodium valproate alleviates neurodegeneration in SCA3/MJD via suppressing apoptosis and rescuing the hypoacetylation levels of histone H3 and H4.
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| Yi J, Zhang L, Tang B, Han W, Zhou Y, Chen Z, Jia D, Jiang H.
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| PLoS One 8(1):e54792. doi: 10.1371/journal.pone.0054792. Epub 2013 Jan 28.
2013
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| 2 | ATXN3, BAX, BCL2L1, MJD
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| Ataxin-3 protects cells against H2O2-induced oxidative stress by enhancing the interaction between Bcl-XL and Bax.
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| Zhou L, Wang H, Wang P, Ren H, Chen D, Ying Z, Wang G.
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| Neuroscience 243:14-21. doi: 10.1016/j.neuroscience.2013.03.047. Epub 2013 Apr 2.
2013
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| 3 | ATXN3, MJD, PRKN
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| The Machado-Joseph disease-associated mutant form of ataxin-3 regulates parkin ubiquitination and stability.
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| Durcan TM, Kontogiannea M, Thorarinsdottir T, Fallon L, Williams AJ, Djarmati A, Fantaneanu T, Paulson HL, Fon EA.
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| Hum Mol Genet 20(1):141-54. Epub 2010 Oct 11. 2011
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| 4 | ATXN3, MJD
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| Excitation-induced ataxin-3 aggregation in neurons from patients with Machado-Joseph disease.
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| Koch P, Breuer P, Peitz M, Jungverdorben J, Kesavan J, Poppe D, Doerr J, Ladewig J, Mertens J, Tüting T, Hoffmann P, Klockgether T, Evert BO, Wüllner U, Brüstle O.
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| Nature 480(7378):543-6. doi: 10.1038/nature10671.
2011
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| 5 | ATXN3, MJD
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| Silencing ataxin-3 mitigates degeneration in a rat model of Machado-Joseph disease: no role for wild-type ataxin-3?
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| Alves S, Nascimento-Ferreira I, Dufour N, Hassig R, Auregan G, Nóbrega C, Brouillet E, Hantraye P, Pedroso de Lima MC, Déglon N, de Almeida LP.
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| Hum Mol Genet 19(12):2380-94. Epub 2010 Mar 22.PMID: 20308049 2010
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| 6 | ATXN3, MJD
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| The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls.
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| Bettencourt C, Santos C, Montiel R, Kay T, Vasconcelos J, Maciel P, Lima M.
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| Eur J Hum Genet 18(5):621-3. Epub 2009 Nov 25.PMID: 19935829 2010
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| 7 | ATXN3, MJD
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| Striatal and nigral pathology in a lentiviral rat model of Machado-Joseph disease.
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| Alves S, Régulier E, Nascimento-Ferreira I, Hassig R, Dufour N, Koeppen A, Carvalho AL, Simőes S, de Lima MC, Brouillet E, Gould VC, Déglon N, de Almeida LP.
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| Hum Mol Genet 17(14):2071-83. Epub 2008 Apr 1. 2008
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| 8 | MJD, ATXN3
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| Proteolytic cleavage of polyglutamine-expanded ataxin-3 is critical for aggregation and sequestration of non-expanded ataxin-3.
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| Haacke A, Broadley SA, Boteva R, Tzvetkov N, Hartl FU, Breuer P.
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| Hum Mol Genet 15(4):555-68. Epub 2006 Jan 11. 2006
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| 9 | MJD, ATXN3
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| A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus.
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| Martins S, Calafell F, Wong VC, Sequeiros J, Amorim A.
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| Eur J Hum Genet 14(8):932-40. Epub 2006 May 17. 2006
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| 10 | SCA1, ATXN1, SCA2, ATXN2, MJD, ATXN3, SCA6, CACNA1A, SCA7, ATXN7, SCA17, TBP, DRPLA, ATN1, SBMA, AR
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| Transcriptional alterations and chromatin remodeling in polyglutamine diseases.
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| Helmlinger D, Tora L, Devys D.
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| Trends Genet 22(10):562-70. Epub 2006 Sep 5. 2006
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| 11 | ATXN3, MJD
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| Ribosomal frameshifting on MJD-1 transcripts with long CAG tracts.
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| Toulouse A, Au-Yeung F, Gaspar C, Roussel J, Dion P, Rouleau GA.
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| Hum Mol Genet 14(18):2649-60. Epub 2005 Aug 8. 2005
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| 12 | FXN, FRDA, FRAXA, FMR1, FRAXE, ATXN1, SCA1, ATXN2, SCA2, ATXN3, MJD, ATXN7, SCA7, SCA6, CACNA1A, SCA17, TBP, DRPLA, ATN1, AR, SBMA, DM1, DMPK, DM2, CNBP, SCA10, ATXN10, SCA12, PPP2R2B, SCA8, ATXN8OS
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| Diseases of unstable repeat expansion: mechanisms and common principles.
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| Gatchel JR, Zoghbi HY.
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| Nat Rev Genet 6(10):743-55. Review. 2005
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| 13 | ATXN3, MJD
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| The pathogenesis of Machado Joseph Disease: a high manganese/low magnesium initiated CAG expansion mutation in susceptible genotypes?
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| Purdey M.
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| J Am Coll Nutr 23(6):715S-29S. Review.
2004
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| 14 | MJD, ATXN3
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| Gene expression profiling in ataxin-3 expressing cell lines reveals distinct effects of normal and mutant ataxin-3.
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| Evert BO, Vogt IR, Vieira-Saecker AM, Ozimek L, de Vos RA, Brunt ER, Klockgether T, Wullner U.
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| J Neuropathol Exp Neurol 62(10):1006-18. 2003
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| 15 | MJD
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| Ataxin-3 is a histone-binding protein with two independent transcriptional corepressor activities.
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| Li F, Macfarlan T, Pittman RN, Chakravarti D.
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| J Biol Chem 277(47):45004-12. Epub 2002 Sep 23. 2002
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| 16 | ATN1, MJD, ATXN1
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| Brain regional differences in the expansion of a CAG repeat in the spinocerebellar ataxia : dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and spinocerebellar ataxia type 1.
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| Hashida H, et al.
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| Ann Neurol 41 : 505-511. 1997
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| 17 | ATXN1, HD, HTT, MJD
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| Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias.
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| Trottier Y, Lutz Y, Stevanin G, Imbert G, Devys D, Cancel G, Saudou F, Weber C, David G, Tora L, et al.
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| Nature 378 : 403-406. 1995
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