| 1 | ATXN7, SCA7
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| Molecular Targets and Therapeutic Strategies in Spinocerebellar Ataxia Type 7.
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| Niewiadomska-Cimicka A, Trottier Y.
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| Neurotherapeutics 16(4):1074-1096. doi: 10.1007/s13311-019-00778-5. Review.
2019
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| 2 | ATXN7, SCA7
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| Ataxin-7 and Non-stop coordinate SCAR protein levels, subcellular localization, and actin cytoskeleton organization.
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| Cloud V, Thapa A, Morales-Sosa P, Miller TM, Miller SA, Holsapple D, Gerhart PM, Momtahan E, Jack JL, Leiva E, Rapp SR, Shelton LG, Pierce RA, Martin-Brown S, Florens L, Washburn MP, Mohan RD.
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| Elife 8. pii: e49677. doi: 10.7554/eLife.49677.
2019
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| 3 | SCA7
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| Ophthalmological and Neurologic Manifestations in Pre-clinical and Clinical Phases of Spinocerebellar Ataxia Type 7.
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| Azevedo PB, Rocha AG, Keim LMN, Lavinsky D, Furtado GV, de Mattos EP, Vargas FR, Leotti VB, Saraiva-Pereira ML, Jardim LB; Rede Neurogenetica.
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| Cerebellum 18(3):388-396. doi: 10.1007/s12311-019-1004-3.
2019
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| 4 | 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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| 5 | ATXN7, SCA7
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| Aggregation of Polyglutamine-expanded Ataxin 7 Protein Specifically Sequesters Ubiquitin-specific Protease 22 and Deteriorates Its Deubiquitinating Function in the Spt-Ada-Gcn5-Acetyltransferase (SAGA) Complex.
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| Yang H, Liu S, He WT, Zhao J, Jiang LL, Hu HY.
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| J Biol Chem 290(36):21996-2004. doi: 10.1074/jbc.M114.631663. Epub 2015 Jul 20.
2015
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| 6 | ATXN7, SCA7
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| Poly(Q) Expansions in ATXN7 Affect Solubility but Not Activity of the SAGA Deubiquitinating Module.
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| Lan X, Koutelou E, Schibler AC, Chen YC, Grant PA, Dent SY.
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| Mol Cell Biol 35(10):1777-87. doi: 10.1128/MCB.01454-14. Epub 2015 Mar 9.
2015
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| 7 | ATXN7, SCA7
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| The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice.
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| Alves S, Cormier-Dequaire F, Marinello M, Marais T, Muriel MP, Beaumatin F, Charbonnier-Beaupel F, Tahiri K, Seilhean D, El Hachimi K, Ruberg M, Stevanin G, Barkats M, den Dunnen W, Priault M, Brice A, Durr A, Corvol JC, Sittler A.
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| Acta Neuropathol 128(5):705-22. doi: 10.1007/s00401-014-1289-8. Epub 2014 May 24.
2014
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| 8 | ATXN7, SCA7
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| Origin of the spinocerebellar ataxia type 7 gene mutation in Mexican population.
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| Magańa JJ, Gómez R, Maldonado-Rodríguez M, Velázquez-Pérez L, Tapia-Guerrero YS, Cortés H, Leyva-García N, Hernández-Hernández O, Cisneros B.
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| Cerebellum 12(6):902-5. doi: 10.1007/s12311-013-0505-8.
2013
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| 9 | ATXN7, SCA7
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| Polyglutamine-expanded ataxin-7 causes cerebellar dysfunction by inducing transcriptional dysregulation.
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| Chou AH, Chen CY, Chen SY, Chen WJ, Chen YL, Weng YS, Wang HL.
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| Neurochem Int 56(2):329-39. Epub 2009 Nov 10.PMID: 19909779 2010
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| 10 | ATXN7, SCA7
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| SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7.
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| Janer A, Werner A, Takahashi-Fujigasaki J, Daret A, Fujigasaki H, Takada K, Duyckaerts C, Brice A, Dejean A, Sittler A.
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| Hum Mol Genet 19(1):181-95. Epub .PMID: 19843541 2010
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| 11 | ATXN7, SCA7
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| Posttranslational modification of ataxin-7 at lysine 257 prevents autophagy-mediated turnover of an N-terminal caspase-7 cleavage fragment.
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| Mookerjee S, Papanikolaou T, Guyenet SJ, Sampath V, Lin A, Vitelli C, DeGiacomo F, Sopher BL, Chen SF, La Spada AR, Ellerby LM.
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| J Neurosci 29(48):15134-44.PMID: 19955365 2009
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| 12 | ATXN7, SCA7
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| Trinucleotide expansions in the SCA7 gene in a large family with spinocerebellar ataxia and craniocervical dystonia.
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| Lin Y, Zheng JY, Jin YH, Xie YC, Jin ZB.
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| Neurosci Lett 434(2):230-3. Epub 2008 Feb 13.PMID: 18325672 2008
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| 13 | SCA7
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| Spinocerebellar ataxia type 7 (SCA7): widespread brain damage in an adult-onset patient with progressive visual impairments in comparison with an adult-onset patient without visual impairments.
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| Rüb U, Brunt ER, Seidel K, Gierga K, Mooy CM, Kettner M, Van Broeckhoven C, Bechmann I, La Spada AR, Schöls L, den Dunnen W, de Vos RA, Deller T.
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| Neuropathol Appl Neurobiol 34(2):155-68. Epub 2007 Oct 26.PMID: 17971076 2008
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| 14 | SCA7
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| Spinocerebellar ataxia type 7 presenting as Stargardt's disease.
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| Tsivgoulis G, Vassilopoulou S, Rallis K, Markomichelakis N, Spengos K.
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| J Neurol 255(3):456-8. Epub 2007 Dec 20. No abstract available. PMID: 18080847 2008
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| 15 | 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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| 16 | SCA7
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| Origin of the SCA7 gene mutation in South Africa: implications for molecular diagnostics.
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| Greenberg J, Solomon GA, Vorster AA, Heckmann J, Bryer A.
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| Clin Genet 70(5):415-7. No abstract available. 2006
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| 17 | 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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| 18 | ATXN7, CRX, KAT2B, SCA7, SUPT3H, TAF9
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| Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration.
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| Palhan VB, Chen S, Peng GH, Tjernberg A, Gamper AM, Fan Y, Chait BT, La Spada AR, Roeder RG.
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| Proc Natl Acad Sci U S A 102(24):8472-7. Epub 2005 Jun 2. 2005
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| 19 | SCA7, ATXN7
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| Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy.
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| Michalik A, Martin JJ, Van Broeckhoven C.
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| Eur J Hum Genet 12(1):2-15. Review. 2004
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| 20 | SCA7, ATXN7
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| Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats.
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| Ansorge O, Giunti P, Michalik A, Van Broeckhoven C, Harding B, Wood N, Scaravilli F.
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| Ann Neurol 56(3):448-52. 2004
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| 21 | SCA7, ATXN7
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| Autosomal recessive cerebellar ataxia with bull's-eye macular dystrophy.
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| Cruysberg JR, Eerola KU, Vrijland HR, Aandekerk AL, Kremer HP, Deutman AF.
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| Am J Ophthalmol 133(3):410-3. 2002
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| 22 | SCA7, ATXN7
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| Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7.
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| La Spada AR, Fu YH, Sopher BL, Libby RT, Wang X, Li LY, Einum DD, Huang J, Possin DE, Smith AC, Martinez RA, Koszdin KL, Treuting PM, Ware CB, Hurley JB, Ptacek LJ, Chen S.
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| Neuron 31(6):913-27. Erratum in: Neuron 2001 Dec 6;32(5):957-8. 2001
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| 23 | SCA7, ATXN7
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| Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia.
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| Jonasson J, Juvonen V, Sistonen P, Ignatius J, Johansson D, Bjorck EJ, Wahlstrom J, Melberg A, Holmgren G, Forsgren L, Holmberg M.
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| Eur J Hum Genet 8(12):918-22. 2000
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| 24 | SCA7, ATXN7
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| The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus.
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| David G, Giunti P, Abbas N, Coullin P, Stevanin G, Horta W, Gemmill R, Weissenbach J, Wood N, Cunha S, Drabkin H, Harding AE, Agid Y, Brice A.
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| Am J Hum Genet 59(6):1328-36. 1996
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