| 1 | ATXN3, BECN1, VCP
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| VCP/p97 regulates Beclin-1-dependent autophagy initiation.
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| Hill SM, Wrobel L, Ashkenazi A, Fernandez-Estevez M, Tan K, Bürli RW, Rubinsztein DC.
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| Nat Chem Biol. Apr;17(4):448-455. doi: 10.1038/s41589-020-00726-x. Epub 2021 Jan 28. 2021
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| 2 | ATXN3, RNF8, VCP
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| The p97-Ataxin 3 complex regulates homeostasis of the DNA damage response E3 ubiquitin ligase RNF8.
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| Singh AN, Oehler J, Torrecilla I, Kilgas S, Li S, Vaz B, Guérillon C, Fielden J, Hernandez-Carralero E, Cabrera E, Tullis ID, Meerang M, Barber PR, Freire R, Parsons J, Vojnovic B, Kiltie AE, Mailand N, Ramadan K.
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| EMBO J 38(21):e102361. doi: 10.15252/embj.2019102361. Epub 2019 Oct 15.
2019
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| 3 | ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, SCA1, SCA2, SCA3, SCA7, SCA8
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| Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent
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| Paradisi I, Ikonomu V, Arias S.
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| J Hum Genet. Mar;61(3):215-22. doi: 10.1038/jhg.2015.131. Epub 2015 Nov 5. 2016
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| 4 | 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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| 5 | 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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| 6 | ATXN3, CAPN1, CAPN2, CAST
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| Calpain-mediated ataxin-3 cleavage in the molecular pathogenesis of spinocerebellar ataxia type 3 (SCA3).
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| Hübener J, Weber JJ, Richter C, Honold L, Weiss A, Murad F, Breuer P, Wüllner U, Bellstedt P, Paquet-Durand F, Takano J, Saido TC, Riess O, Nguyen HP.
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| Hum Mol Genet 22(3):508-18. doi: 10.1093/hmg/dds449. Epub 2012 Oct 24.
2013
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| 7 | ATXN3
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| Ataxin-3 regulates aggresome formation of copper-zinc superoxide dismutase (SOD1) by editing K63-linked polyubiquitin chains.
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| Wang H, Ying Z, Wang G.
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| J Biol Chem 287(34):28576-85. doi: 10.1074/jbc.M111.299990. Epub 2012 Jul 3.
2012
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| 8 | ATXN3
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| Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models.
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| Stochmanski SJ, Therrien M, Laganičre J, Rochefort D, Laurent S, Karemera L, Gaudet R, Vyboh K, Van Meyel DJ, Di Cristo G, Dion PA, Gaspar C, Rouleau GA.
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| Hum Mol Genet 21(10):2211-8. doi: 10.1093/hmg/dds036. Epub 2012 Feb 14.
2012
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| 9 | ATXN3, VCP
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| Valosin-containing protein (VCP/p97) is an activator of wild-type ataxin-3.
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| Laço MN, Cortes L, Travis SM, Paulson HL, Rego AC.
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| PLoS One 7(9):e43563. doi: 10.1371/journal.pone.0043563. Epub 2012 Sep 6.
2012
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| 10 | ATXN3
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| The role of the central flexible region on the aggregation and conformational properties of human ataxin-3.
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| Santambrogio C, Frana AM, Natalello A, Papaleo E, Regonesi ME, Doglia SM, Tortora P, Invernizzi G, Grandori R.
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| FEBS J 279(3):451-63. doi: 10.1111/j.1742-4658.2011.08438.x. Epub 2012 Jan 9.
2012
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| 11 | ATXN3, PRKN
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| Ataxin-3 deubiquitination is coupled to Parkin ubiquitination via E2 ubiquitin-conjugating enzyme.
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| Durcan TM, Kontogiannea M, Bedard N, Wing SS, Fon EA.
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| J Biol Chem 287(1):531-41. doi: 10.1074/jbc.M111.288449. Epub 2011 Nov 11. 2012
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| 12 | 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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| 13 | ATXN3, VCP
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| The Machado-Joseph disease deubiquitylase ATX-3 couples longevity and proteostasis.
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| Kuhlbrodt K, Janiesch PC, Kevei É, Segref A, Barikbin R, Hoppe T.
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| Nat Cell Biol 13(3):273-81. Epub 2011 Feb 13.
2011
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| 14 | ATXN3, FOXO4, SOD2
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| FOXO4-dependent upregulation of superoxide dismutase-2 in response to oxidative stress is impaired in spinocerebellar ataxia type 3.
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| Araujo J, Breuer P, Dieringer S, Krauss S, Dorn S, Zimmermann K, Pfeifer A, Klockgether T, Wuellner U, Evert BO.
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| Hum Mol Genet 20(15):2928-41. Epub 2011 May 2.
2011
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| 15 | ATXN3, UBE2W
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| Ube2w and ataxin-3 coordinately regulate the ubiquitin ligase CHIP.
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| Scaglione KM, Zavodszky E, Todi SV, Patury S, Xu P, Rodríguez-Lebrón E, Fischer S, Konen J, Djarmati A, Peng J, Gestwicki JE, Paulson HL.
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| Mol Cell 43(4):599-612.
2011
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| 16 | 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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| 17 | 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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| 18 | 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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| 19 | ATXN3
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| Increased transcript diversity: novel splicing variants of Machado-Joseph Disease gene (ATXN3).
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| Bettencourt C, Santos C, Montiel R, Costa MD, Cruz-Morales P, Santos LR, Simőes N, Kay T, Vasconcelos J, Maciel P, Lima M.
|
| Neurogenetics eurogenetics. 2009 Aug 28. [Epub ahead of print]
2009
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| 20 | ATXN3, CSNK2A1
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| CK2-dependent phosphorylation determines cellular localization and stability of ataxin-3.
|
| Mueller T, Breuer P, Schmitt I, Walter J, Evert BO, Wüllner U.
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| Hum Mol Genet 18(17):3334-43. Epub 2009 Jun 19.PMID: 19542537 2009
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| 21 | AMFR, ATXN3, SOD1
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| Gp78, an ER associated E3, promotes SOD1 and ataxin-3 degradation.
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| Ying Z, Wang H, Fan H, Zhu X, Zhou J, Fei E, Wang G.
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| Hum Mol Genet 18(22):4268-81. Epub 2009 Aug 6.PMID: 19661182 2009
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| 22 | ATXN3
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| Josephin domain of ataxin-3 contains two distinct ubiquitin-binding sites.
|
| Nicastro G, Masino L, Esposito V, Menon RP, De Simone A, Fraternali F, Pastore A.
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| Biopolymers 91(12):1203-14. doi: 10.1002/bip.21210.
2009
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| 23 | 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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| 24 | ATXN3
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| The deubiquitinating enzyme ataxin-3, a polyglutamine disease protein, edits Lys63 linkages in mixed linkage ubiquitin chains.
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| Winborn BJ, Travis SM, Todi SV, Scaglione KM, Xu P, Williams AJ, Cohen RE, Peng J, Paulson HL.
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| J Biol Chem 283(39):26436-43. Epub 2008 Jul 3.
2008
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| 25 | ATXN3
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| Josephin domain-containing proteins from a variety of species are active de-ubiquitination enzymes.
|
| Tzvetkov N, Breuer P.
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| Biol Chem 388(9):973-8.
2007
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| 26 | ATXN3, NEDD8
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| NEDD8: a new ataxin-3 interactor.
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| Ferro A, Carvalho AL, Teixeira-Castro A, Almeida C, Tomé RJ, Cortes L, Rodrigues AJ, Logarinho E, Sequeiros J, Macedo-Ribeiro S, Maciel P.
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| Biochim Biophys Acta 1773(11):1619-27. Epub 2007 Aug 24.PMID: 17935801 2007
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| 27 | ATXN3, PSMC5
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| p45, an ATPase subunit of the 19S proteasome, targets the polyglutamine disease protein ataxin-3 to the proteasome.
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| Wang H, Jia N, Fei E, Wang Z, Liu C, Zhang T, Fan J, Wu M, Chen L, Nukina N, Zhou J, Wang G.
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| J Neurochem 101(6):1651-61. Epub 2007 Feb 14.
2007
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| 28 | 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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| 29 | 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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| 30 | ATXN3, VCP
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| Ataxin-3 binds VCP/p97 and regulates retrotranslocation of ERAD substrates.
|
| Zhong X, Pittman RN.
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| Hum Mol Genet 15(16):2409-20. Epub 2006 Jul 5. 2006
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| 31 | 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.
|
| 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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| 32 | ATXN3
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| Ataxin-3 is subject to autolytic cleavage.
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| Mauri PL, Riva M, Ambu D, De Palma A, Secundo F, Benazzi L, Valtorta M, Tortora P, Fusi P.
|
| FEBS J 273(18):4277-86. 2006
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| 33 | ATXN3, MJD
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| Ribosomal frameshifting on MJD-1 transcripts with long CAG tracts.
|
| 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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| 34 | 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.
|
| Gatchel JR, Zoghbi HY.
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| Nat Rev Genet 6(10):743-55. Review. 2005
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| 35 | ATXN3
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| Ataxin-3 suppresses polyglutamine neurodegeneration in Drosophila by a ubiquitin-associated mechanism.
|
| Warrick JM, Morabito LM, Bilen J, Gordesky-Gold B, Faust LZ, Paulson HL, Bonini NM.
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| Mol Cell 18(1):37-48. 2005
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| 36 | ATXN3
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| Molecular architecture of CAG repeats in human disease related transcripts.
|
| Michlewski G, Krzyzosiak WJ.
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| J Mol Biol 340(4):665-79. 2004
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| 37 | ATXN2, ATXN3
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| Structural and functional analysis of ataxin-2 and ataxin-3.
|
| Albrecht M, Golatta M, Wullner U, Lengauer T.
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| Eur J Biochem 271(15):3155-70. 2004
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| 38 | ATXN3
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| Defining a metabolic phenotype in the brain of a transgenic mouse model of spinocerebellar ataxia 3.
|
| Griffin JL, Cemal CK, Pook MA.
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| Physiol Genomics 16(3):334-40. 2004
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| 39 | ATXN3, UBE4B
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| Molecular clearance of ataxin-3 is regulated by a mammalian E4.
|
| Matsumoto M, Yada M, Hatakeyama S, Ishimoto H, Tanimura T, Tsuji S, Kakizuka A, Kitagawa M, Nakayama KI.
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| EMBO J 23(3):659-69. Epub 2004 Jan 29. 2004
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| 40 | ATXN3
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| Structural and functional analysis of the Josephin domain of the polyglutamine protein ataxin-3.
|
| Chow MK, Mackay JP, Whisstock JC, Scanlon MJ, Bottomley SP.
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| Biochem Biophys Res Commun 322(2):387-94. 2004
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| 41 | ATXN3
|
| Characterization of the structure and the amyloidogenic properties of the Josephin domain of the polyglutamine-containing protein ataxin-3.
|
| Masino L, Nicastro G, Menon RP, Dal Piaz F, Calder L, Pastore A.
|
| J Mol Biol 344(4):1021-35. 2004
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| 42 | ATXN3, MJD
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| The pathogenesis of Machado Joseph Disease: a high manganese/low magnesium initiated CAG expansion mutation in susceptible genotypes?
|
| Purdey M.
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| J Am Coll Nutr 23(6):715S-29S. Review.
2004
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| 43 | ATXN3, VCP
|
| Molecular analyses of Machado-Joseph disease.
|
| Kobayashi T, Kakizuka A.
|
| Cytogenet Genome Res 100(1-4):261-75. No abstract available. 2003
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| 44 | ATXN3, ATXN7
|
| Elucidation of ataxin-3 and ataxin-7 function by integrative bioinformatics.
|
| Scheel H, Tomiuk S, Hofmann K.
|
| Hum Mol Genet 12(21):2845-52. Epub 2003 Aug 27. 2003
|
| 45 | ATXN3
|
| The polyglutamine neurodegenerative protein ataxin-3 binds polyubiquitylated proteins and has ubiquitin protease activity.
|
| Burnett B, Li F, Pittman RN.
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| Hum Mol Genet 12(23):3195-205. Epub 2003 Oct 14. 2003
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| 46 | ATXN3
|
| Ataxin-3 interactions with rad23 and valosin-containing protein and its associations with ubiquitin chains and the proteasome are consistent with a role in ubiquitin-mediated proteolysis.
|
| Doss-Pepe EW, Stenroos ES, Johnson WG, Madura K.
|
| Mol Cell Biol 23(18):6469-83. 2003
|
| 47 | MJD, ATXN3
|
| Gene expression profiling in ataxin-3 expressing cell lines reveals distinct effects of normal and mutant ataxin-3.
|
| Evert BO, Vogt IR, Vieira-Saecker AM, Ozimek L, de Vos RA, Brunt ER, Klockgether T, Wullner U.
|
| J Neuropathol Exp Neurol 62(10):1006-18. 2003
|
| 48 | ATXN3
|
| The human MJD gene: genomic structure and functional characterization of the promoter region.
|
| Schmitt I, Evert BO, Khazneh H, Klockgether T, Wuellner U.
|
| Gene 314:81-8. 2003
|
| 49 | ATXN3
|
| The genomic structure and expression of MJD, the Machado-Joseph disease gene.
|
| Ichikawa Y, Goto J, Hattori M, Toyoda A, Ishii K, Jeong SY, Hashida H, Masuda N, Ogata K, Kasai F, Hirai M, Maciel P, Rouleau GA, Sakaki Y, Kanazawa I.
|
| J Hum Genet 46(7):413-22. 2001
|
| 50 | ATXN3
|
| Cell cycle arrest enhances the in vitro cellular toxicity of the truncated machado-joseph disease gene product with an expanded polyglutamine stretch.
|
| Yoshizawa T, Yamagishi Y, Koseki N, Goto J, Yoshida H, Shibasaki F, Shoji S, Kanazawa I.
|
| Hum Mol Genet 9(1):69-78 2000
|
| 51 | ATXN3, RAD23A, RAD23BL
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| Ataxin-3, the MJD1 gene product, interacts with the two human homologs of yeast DNA repair protein RAD23, HHR23A and HHR23B.
|
| Wang G, Sawai N, Kotliarova S, Kanazawa I, Nukina N.
|
| Hum Mol Genet 9(12):1795-803. 2000
|
| 52 | ATXN3
|
| Ataxin-3 is translocated into the nucleus for the formation of intranuclear inclusions in normal and Machado-Joseph disease brains.
|
| Fujigasaki H, Uchihara T, Koyano S, Iwabuchi K, Yagishita S, Makifuchi T, Nakamura A, Ishida K, Toru S, Hirai S, Ishikawa K, Tanabe T, Mizusawa H.
|
| Exp Neurol 165(2):248-56. 2000
|
| 53 | ATXN3
|
| Evidence for proteasome involvement in polyglutamine disease: localization to nuclear inclusions in SCA3/MJD and suppression of polyglutamine aggregation in vitro.
|
| Chai Y, et al.
|
| Hum Mol Genet 8(4):673-82. 1999
|
| 54 | ATXN3
|
| Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract.
|
| Maciel P, et al.
|
| Eur J Hum Genet 7(2):147-56. 1999
|
| 55 | ERDA1, ATXN3, ATXN1, ATXN2, ATXN7, TCF4
|
| Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands.
|
| Brock GJ, et al.
|
| Hum Mol Genet 8(6):1061-7. 1999
|
| 56 | ATXN3
|
| High level expression of expanded full-length ataxin-3 in vitro causes cell death and formation of intranuclear inclusions in neuronal cells.
|
| Evert BO, et al.
|
| Hum Mol Genet 8(7):1169-1176. 1999
|
| 57 | ATXN3
|
| Ataxin-3 with an altered conformation that exposes the polyglutamine domain is associated with the nuclear matrix.
|
| Perez MK, Paulson HL, Pittman RN.
|
| Hum Mol Genet 8(13):2377-85 1999
|
| 58 | ATXN3, ATXN1
|
| Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3.
|
| Burk K, Fetter M, Abele M, Laccone F, Brice A, Dichgans J, Klockgether T.
|
| J Neurol 246(9):789-97 1999
|
| 59 | ATXN3
|
| Ataxin-3 is transported into the nucleus and associates with the nuclear matrix.
|
| Tait D, et al.
|
| Hum Mol Genet 7 : 991-997. 1998
|
| 60 | ATXN3
|
| Different behavior in the paternally vs. maternally inherited mutated allele in Brazilian Machado-Joseph (MJD1) families.
|
| Iughetti P, et al.
|
| Am J Med Genet 77 : 246-248. 1998
|
| 61 | ATXN3
|
| An isoform of ataxin-3 accumulates in the nucleus of neuronal cells in affected brain regions of SCA3 patients.
|
| Schmidt T, et al.
|
| Brain Pathol 8 : 669-679. 1998
|
| 62 | ATXN3
|
| Non-mendelian transmission at the Machado-Joseph disease locus in normal females : preferential transmission of alleles with smaller CAG repeats.
|
| Rubinsztein DC, et al.
|
| J Med Genet 34 : 234-236. 1997
|
| 63 | ATXN3
|
| Machado-Joseph disease gene product is a cytoplasmic protein widely expressed in brain.
|
| Paulson HL, et al.
|
| Ann Neurol 41 : 453-462. 1997
|
| 64 | ATXN3
|
| Mosaicism of the CAG repeat in CNS tissue in relation to age at death in spinocerebellar ataxia type 1 and Machado-Joseph disease patients.
|
| Maciel P, et al.
|
| Am J Hum Genet 60 : 993-996. 1997
|
| 65 | ATXN3
|
| Machado-Joseph disease gene product identified in lymphocytes and brain.
|
| Wang G, et al.
|
| Biochem Biophys Res Commun 233 : 476-479. 1997
|
| 66 | ATXN3
|
| Single sperm analysis of the CAG repeats in the gene for Machado-Joseph disease (MJD1): evidence for non-Mendelian transmission of the MJD1 gene and for the effect of the intragenic CGG/GGG polymorphism on the intergenerational instability.
|
| Takiyama Y, Sakoe K, Soutome M, Namekawa M, Ogawa T, Nakano I, Igarashi S, Oyake M, Tanaka H, Tsuji S, Nishizawa M.
|
| Hum Mol Genet 6(7):1063-8. 1997
|
| 67 | ATXN3
|
| Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon.
|
| Stevanin G, Lebre AS, Mathieux C, Cancel G, Abbas N, Didierjean O, Durr A, Trottier Y, Agid Y, Brice A.
|
| Am J Hum Genet 60(6):1548-52. 1997
|
| 68 | ATXN3
|
| Machado-Joseph disease gene products carrying different carboxyl termini.
|
| Goto J, Watanabe M, Ichikawa Y, Yee SB, Ihara N, Endo K, Igarashi S, Takiyama Y, Gaspar C, Maciel P, Tsuji S, Rouleau GA, Kanazawa I.
|
| Neurosci Res 28(4):373-7. 1997
|
| 69 | ATXN3
|
| Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3.
|
| Paulson HL, Perez MK, Trottier Y, Trojanowski JQ, Subramony SH, Das SS, Vig P, Mandel JL, Fischbeck KH, Pittman RN.
|
| Neuron 19(2):333-44. 1997
|
| 70 | ATXN3
|
| Mutations in American families with spinocerebellar ataxia (SCA) type 3 : SCA3 is allelic to Machado-Joseph disease.
|
| Higgins JJ, et al.
|
| Neurology 46 : 208-213. 1996
|
| 71 | ATN1, ATXN3
|
| Non-mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease : the mutant allele is preferentially transmitted in male meiosis.
|
| Ikeuchi T, et al.
|
| Am J Hum Genet 58 : 730-733. 1996
|
| 72 | ATXN3
|
| Different origins of mutations at the Machado-Joseph locus (MJD1).
|
| Iughetti P, et al.
|
| J Med Genet 33 : 439-440. 1996
|
| 73 | ATXN3
|
| Machado-Joseph disease : correlation between the clinical features, the CAG repeat length and homozygosity for the mutation.
|
| Lerer I, et al.
|
| Eur J Hum Genet 4 : 3-7. 1996
|
| 74 | ATXN3
|
| Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome : implications for the molecular mechanisms of the instability of the CAG repeat.
|
| Igarashi S, et al.
|
| Hum Mol Genet 5 : 923-932. 1996
|
| 75 | ATXN3
|
| A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease.
|
| DeStefano AL, et al.
|
| Am J Hum Genet 59 : 119-127. 1996
|
| 76 | ATXN3
|
| Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo.
|
| Ikeda H, et al.
|
| Nat Genet 13 : 196-202. 1996
|
| 77 | ATXN3
|
| Strong linkage disequilibrium and haplotype analysis in Japanese pedigrees with Machado-Joseph disease.
|
| Endo K, et al.
|
| Am J Med Genet 67 : 437-444. 1996
|
| 78 | ATXN3
|
| Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins.
|
| Gaspar C, et al.
|
| Hum Genet 98 : 620-624. 1996
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| 104 | ATXN3
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