| 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 | 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 | 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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| 5 | 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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| 6 | 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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| 7 | ATXN7, HDAC3
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| Histone deacetylase-3 interacts with ataxin-7 and is altered in a spinocerebellar ataxia type 7 mouse model.
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| Duncan CE, An MC, Papanikolaou T, Rugani C, Vitelli C, Ellerby LM.
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| Mol Neurodegener 8:42. doi: 10.1186/1750-1326-8-42.
2013
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| 8 | ATXN7, KAT2A
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| Direct inhibition of Gcn5 protein catalytic activity by polyglutamine-expanded ataxin-7.
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| Burke TL, Miller JL, Grant PA.
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| J Biol Chem 288(47):34266-75. doi: 10.1074/jbc.M113.487538. Epub 2013 Oct 15.
2013
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| 9 | ATXN7, SCA7
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| Origin of the spinocerebellar ataxia type 7 gene mutation in Mexican population.
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| Magaña 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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| 10 | ATXN7
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| Genetic variation in ataxia gene ATXN7 influences cerebellar grey matter volume in healthy adults.
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| van der Heijden CD, Rijpkema M, Arias-Vásquez A, Hakobjan M, Scheffer H, Fernandez G, Franke B, van de Warrenburg BP.
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| Cerebellum 12(3):390-5. doi: 10.1007/s12311-012-0423-1.
2013
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| 11 | ATXN7, RELN
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| Reelin is a target of polyglutamine expanded ataxin-7 in human spinocerebellar ataxia type 7 (SCA7) astrocytes.
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| McCullough SD, Xu X, Dent SY, Bekiranov S, Roeder RG, Grant PA.
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| Proc Natl Acad Sci U S A 109(52):21319-24. doi: 10.1073/pnas.1218331110. Epub 2012 Dec 10.
2012
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| 12 | ATXN7
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| Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network.
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| Nakamura Y, Tagawa K, Oka T, Sasabe T, Ito H, Shiwaku H, La Spada AR, Okazawa H.
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| Hum Mol Genet 21(5):1099-110. doi: 10.1093/hmg/ddr539. Epub 2011 Nov 18.
2012
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| 13 | ATXN7, CACNA1A, CRIM1
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| Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia.
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| Kahle JJ, Gulbahce N, Shaw CA, Lim J, Hill DE, Barabási AL, Zoghbi HY.
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| Hum Mol Genet. 20(3):510-27. 2011
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| 14 | ATXN7, ATXN7L3, ENY2
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| The tightly controlled deubiquitination activity of the human SAGA complex differentially modifies distinct gene regulatory elements.
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| Lang G, Bonnet J, Umlauf D, Karmodiya K, Koffler J, Stierle M, Devys D, Tora L.
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| Mol Cell Biol 31(18):3734-44. doi: 10.1128/MCB.05231-11.
2011
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| 15 | 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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| 16 | 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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| 17 | ATXN7, ATXN7L3
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| The structural plasticity of SCA7 domains defines their differential nucleosome-binding properties.
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| Bonnet J, Wang YH, Spedale G, Atkinson RA, Romier C, Hamiche A, Pijnappel WW, Timmers HT, Tora L, Devys D, Kieffer B.
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| EMBO Rep 11(8):612-8. Epub 2010 Jul 16. 2010
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| 18 | 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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| 19 | ATXN1, ATXN7, IGFBP5
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| The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7.
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| Gatchel JR, Watase K, Thaller C, Carson JP, Jafar-Nejad P, Shaw C, Zu T, Orr HT, Zoghbi HY.
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| Proc Natl Acad Sci U S A 105(4):1291-6. Epub 2008 Jan 23.
2008
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| 20 | 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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| 21 | 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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| 22 | 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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| 23 | 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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| 24 | CRX, ATXN7
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| Interference of Crx-dependent transcription by ataxin-7 involves interaction between the glutamine regions and requires the ataxin-7 carboxy-terminal region for nuclear localization.
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| Chen S, Peng GH, Wang X, Smith AC, Grote SK, Sopher BL, La Spada AR.
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| Hum Mol Genet 13(1):53-67. Epub 2003 Nov 12. 2004
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| 25 | ATXN7, ATXN7L1, ATXN7L2, ATXN7L3
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| Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes.
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| Helmlinger D, Hardy S, Sasorith S, Klein F, Robert F, Weber C, Miguet L, Potier N, Van-Dorsselaer A, Wurtz JM, Mandel JL, Tora L, Devys D.
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| Hum Mol Genet 13(12):1257-65. Epub 2004 Apr 28. 2004
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| 26 | 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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| 27 | 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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| 28 | ATXN7
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| Spinocerebellar ataxia 7 (SCA7).
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| Lebre AS, Brice A.
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| Cytogenet Genome Res 100(1-4):154-63. 2003
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| 29 | ATXN3, ATXN7
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| Elucidation of ataxin-3 and ataxin-7 function by integrative bioinformatics.
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| Scheel H, Tomiuk S, Hofmann K.
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| Hum Mol Genet 12(21):2845-52. Epub 2003 Aug 27. 2003
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| 30 | ATXN2, ATXN7
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| Childhood-onset ataxia: Testing for large CAG-repeats in SCA2 and SCA7.
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| Mao R, Aylsworth AS, Potter N, Wilson WG, Breningstall G, Wick MJ, Babovic-Vuksanovic D, Nance M, Patterson MC, Gomez CM, Snow K.
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| Am J Med Genet 110(4):338-45. 2002
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| 31 | ATXN7
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| Expression of ataxin-7 in CNS and non-CNS tissue of normal and SCA7 individuals.
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| Jonasson J, Strom AL, Hart P, Brannstrom T, Forsgren L, Holmberg M.
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| Acta Neuropathol (Berl) 104(1):29-37. Epub 2002 Mar 02. 2002
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| 32 | ATXN7
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| Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype.
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| Aleman TS, Cideciyan AV, Volpe NJ, Stevanin G, Brice A, Jacobson SG.
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| Exp Eye Res 74(6):737-45. 2002
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| 33 | 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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| 34 | ATXN7, SORBS1
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| Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions.
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| Lebre AS, Jamot L, Takahashi J, Spassky N, Leprince C, Ravise N, Zander C, Fujigasaki H, Kussel-Andermann P, Duyckaerts C, Camonis JH, Brice A.
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| Hum Mol Genet 10(11):1201-13. 2001
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| 35 | ATXN7
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| Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3.
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| Zander C, Takahashi J, El Hachimi KH, Fujigasaki H, Albanese V, Lebre AS, Stevanin G, Duyckaerts C, Brice A.
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| Hum Mol Genet 10(22):2569-79. 2001
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| 36 | 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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| 37 | ATXN7
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| Conserved phosphoprotein interaction motif is functionally interchangeable between ataxin-7 and arrestins.
|
| Mushegian AR, Vishnivetskiy SA, Gurevich VV.
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| Biochemistry 39(23):6809-13. 2000
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| 38 | ATXN7
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| Distribution of ataxin-7 in normal human brain and retina.
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| Cancel G, Duyckaerts C, Holmberg M, Zander C, Yvert G, Lebre AS, Ruberg M, Faucheux B, Agid Y, Hirsch E, Brice A.
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| Brain 123 Pt 12:2519-30. 2000
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| 39 | 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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| 40 | ERDA1, ATXN3, ATXN1, ATXN2, ATXN7, TCF4
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| Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands.
|
| Brock GJ, et al.
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| Hum Mol Genet 8(6):1061-7. 1999
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| 41 | ATXN7
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| Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and De novo mutation.
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| Giunti P, et al.
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| Am J Hum Genet 64(6):1594-603. 1999
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| 42 | ATXN7
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| Genomic organisation of the spinocerebellar ataxia type 7 (SCA7) gene responsible for autosomal dominant cerebellar ataxia with retinal degeneration.
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| Michalik A, Del-Favero J, Mauger C, Lofgren A, Van Broeckhoven C.
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| Hum Genet 105(5):410-7 1999
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| 43 | ATXN7
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| Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism.
|
| [No authors listed]
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| Eur J Hum Genet 7(8):889-96 1999
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| 44 | ATXN7
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| Identification and localization of ataxin-7 in brain and retina of a patient with cerebellar ataxia type II using anti-peptide antibody.
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| Mauger C, Del-Favero J, Ceuterick C, Lubke U, van Broeckhoven C, Martin J.
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| Brain Res Mol Brain Res 74(1-2):35-43. 1999
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| 45 | ATXN7
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| Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7.
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| Kaytor MD, Duvick LA, Skinner PJ, Koob MD, Ranum LP, Orr HT.
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| Hum Mol Genet 8(9):1657-64. 1999
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| 46 | ATXN7
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| Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion.
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| Del-Favero J, Krols L, Michalik A, Theuns J, Lofgren A, Goossens D, Wehnert A, Van den Bossche D, Van Zand K, Backhovens H, van Regenmorter N, Martin JJ, Van Broeckhoven C.
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| Hum Mol Genet 7(2):177-86. 1998
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| 47 | ATXN7
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| Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7).
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| David G, Durr A, Stevanin G, Cancel G, Abbas N, Benomar A, Belal S, Lebre AS, Abada-Bendib M, Grid D, Holmberg M, Yahyaoui M, Hentati F, Chkili T, Agid Y, Brice A.
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| Hum Mol Genet 7(2):165-70. 1998
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| 48 | ATXN7
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| Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients : effects of CAG repeat length on the clinical manifestation.
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| Johansson J, Forsgren L, Sandgren O, Brice A, Holmgren G, Holmberg M.
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| Hum Mol Genet 7(2):171-6. 1998
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| 49 | ATXN7
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| Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission.
|
| Gouw LG, et al.
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| Hum Mol Genet 7 : 525-532. 1998
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| 50 | ATXN7
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| Spinocerebellar ataxia type 7 (SCA7) : a neurodegenerative disorder with neuronal intranuclear inclusions.
|
| Holmberg M, et al.
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| Hum Mol Genet 7 : 913-918. 1998
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| 51 | ATXN7
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| De novo expansion of intermediate alleles in spinocerebellar ataxia 7.
|
| Stevanin G, et al.
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| Hum Mol Genet 7 : 1809-1813. 1998
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| 52 | ATXN7
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| Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1.
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| Krols L, et al.
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| Hum Genet 99 : 225-232. 1997
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| 53 | ATXN7
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| Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.
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| David G, Abbas N, Stevanin G, Durr A, Yvert G, Cancel G, Weber C, Imbert G, Saudou F, Antoniou E, Drabkin H, Gemmill R, Giunti P, Benomar A, Wood N, Ruberg M, Agid Y, Mandel JL, Brice A.
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| Nat Genet 17(1):65-70. 1997
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| 54 | SATB1, ATXN7, SMARCA2
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| Polymorphisms at 13 expressed human sequences containing CAG/CTG repeats and analysis in autosomal dominant cerebellar ataxia (ADCA) patients.
|
| Pujana MA, Gratacos M, Corral J, Banchs I, Sanchez A, Genis D, Cervera C, Volpini V, Estivill X.
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| Hum Genet 101(1):18-21. 1997
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| 55 | MAB21L1, ATXN7
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| Survey of CAG/CTG repeats in human cDNAs representing new genes : candidates for inherited neurological disorders.
|
| NŽri C, et al.
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| Hum Mol Genet 5 : 1001-1009. 1996
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| 56 | ATXN7
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| An expanded CAG repeat sequence in spinocerebellar ataxia type 7.
|
| Lindblad K, et al.
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| Genome Res 6 : 965-971. 1996
|
| 57 | ATXN2, ATXN7
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| Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias.
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| Stevanin G, et al.
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| Hum Mol Genet 5 : 1887-1892. 1996
|
| 58 | 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.
|
| David G, et al.
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| Am J Hum Genet 59 : 1328-1336. 1996
|
| 59 | ATXN7
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| Muscle morphology and mitochondrial investigations of a family with autosomal dominant cerebellar ataxia and retinal degeneration mapped to chromosome 3p12-p21.1.
|
| Forsgren L, et al.
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| J Neurol Sci 144 : 91-98. 1996
|
| 60 | SCA7, ATXN7
|
| 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.
|
| 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.
|
| Am J Hum Genet 59(6):1328-36. 1996
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| 61 | ATXN7
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| Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p.
|
| Gouw LG, et al.
|
| Nat Genet 10 : 89-93. 1995
|
| 62 | ATXN7
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| The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1.
|
| Benomar A, et al.
|
| Nat Genet 10 : 84-88. 1995
|
| 63 | ATXN7
|
| Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1.
|
| Holmberg M, et al.
|
| Hum Mol Genet 4 : 1441-1445. 1995
|
| 64 | ATXN7
|
| Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I.
|
| Benomar A, et al.
|
| Ann Neurol 35 : 439-444. 1994
|