| 1 | ATXN1, CIC, MRD45
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| Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.
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| Lu HC, Tan Q, Rousseaux MW, Wang W, Kim JY, Richman R, Wan YW, Yeh SY, Patel JM, Liu X, Lin T, Lee Y, Fryer JD, Han J, Chahrour M, Finnell RH, Lei Y, Zurita-Jimenez ME, Ahimaz P, Anyane-Yeboa K, Van Maldergem L, Lehalle D, Jean-Marcais N, Mosca-Boidron AL, Thevenon J, Cousin MA, Bro DE, Lanpher BC, Klee EW, Alexander N, Bainbridge MN, Orr HT, Sillitoe RV, Ljungberg MC, Liu Z, Schaaf CP, Zoghbi HY.
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| Nat Genet 49(4):527-536. doi: 10.1038/ng.3808. Epub 2017 Mar 13.
2017
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| 2 | 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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| 3 | ATXN1, PUM1
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| Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type Ataxin1 levels
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| Gennarino VA, Singh RK, White JJ, De Maio A, Han K, Kim JY, Jafar-Nejad P, di Ronza A, Kang H, Sayegh LS, Cooper TA, Orr HT, Sillitoe RV, Zoghbi HY.
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| Cell. Mar 12;160(6):1087-98. doi: 10.1016/j.cell.2015.02.012 2015
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| 4 | ANP32A, ATXN1, PPP2R4, SCA1
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| A novel function of Ataxin-1 in the modulation of PP2A activity is dysregulated in the spinocerebellar ataxia type 1.
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| Sánchez I, Piñol P, Corral-Juan M, Pandolfo M, Matilla-Dueñas A.
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| Hum Mol Genet 22(17):3425-37. doi: 10.1093/hmg/ddt197. Epub 2013 Apr 29. 2013
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| 5 | ATXN1, DZIP3, HOTAIR, MEX3B, SNUPN
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| Scaffold function of long non-coding RNA HOTAIR in protein ubiquitination.
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| Yoon JH, Abdelmohsen K, Kim J, Yang X, Martindale JL, Tominaga-Yamanaka K, White EJ, Orjalo AV, Rinn JL, Kreft SG, Wilson GM, Gorospe M.
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| Nat Commun 4:2939. doi: 10.1038/ncomms3939.
2013
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| 6 | ATXN1, CIC
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| Structural basis of protein complex formation and reconfiguration by polyglutamine disease protein Ataxin-1 and Capicua.
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| Kim E, Lu HC, Zoghbi HY, Song JJ.
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| Genes Dev 27(6):590-5. doi: 10.1101/gad.212068.112.
2013
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| 7 | ANP32A, ATXN1, SCA1
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| LANP mediates neuritic pathology in Spinocerebellar ataxia type 1.
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| Cvetanovic M, Kular RK, Opal P.
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| Neurobiol Dis 48(3):526-32. doi: 10.1016/j.nbd.2012.07.024. Epub 2012 Aug 4.
2012
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| 8 | ATXN1, ATXN1L
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| Ataxin-1 and Brother of ataxin-1 are components of the Notch signalling pathway.
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| Tong X, Gui H, Jin F, Heck BW, Lin P, Ma J, Fondell JD, Tsai CC.
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| EMBO Rep. 12(5):428-35. 2011
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| 9 | ATXN1, CTBP2
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| Ataxin-1 occupies the promoter region of E-cadherin in vivo and activates CtBP2-repressed promoter.
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| Lee S, Hong S, Kim S, Kang S.
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| Biochim Biophys Acta 1813(5):713-22. Epub 2011 Feb 23.
2011
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| 10 | ATXN1, CIC, SCA1
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| Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua.
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| Fryer JD, Yu P, Kang H, Mandel-Brehm C, Carter AN, Crespo-Barreto J, Gao Y, Flora A, Shaw C, Orr HT, Zoghbi HY.
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| Science 334(6056):690-3. 2011
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| 11 | ATXN1, RBM17, U2AF2
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| 14-3-3 Binding to ataxin-1(ATXN1) regulates its dephosphorylation at Ser-776 and transport to the nucleus.
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| Lai S, O'Callaghan B, Zoghbi HY, Orr HT.
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| J Biol Chem 286(40):34606-16. Epub 2011 Aug 11.
2011
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| 12 | ATXN1
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| Loss of function of ATXN1 increases amyloid beta-protein levels by potentiating beta-secretase processing of beta-amyloid precursor protein.
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| Zhang C, Browne A, Child D, Divito JR, Stevenson JA, Tanzi RE.
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| J Biol Chem 285(12):8515-26. Epub 2010 Jan 22.PMID: 20097758 2010
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| 13 | ATXN1
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| Oxidative stress-enhanced SUMOylation and aggregation of ataxin-1: Implication of JNK pathway.
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| Ryu J, Cho S, Park BC, Lee do H.
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| Biochem Biophys Res Commun 393(2):280-5. Epub 2010 Feb 2.PMID: 20132795 2010
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| 14 | ATXN1, SCA1
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| Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis.
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| Crespo-Barreto J, Fryer JD, Shaw CA, Orr HT, Zoghbi HY.
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| PLoS Genet 6(7):e1001021.PMID: 20628574 2010
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| 15 | ATXN1
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| Phosphorylation of ATXN1 at Ser776 in the cerebellum.
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| Jorgensen ND, Andresen JM, Lagalwar S, Armstrong B, Stevens S, Byam CE, Duvick LA, Lai S, Jafar-Nejad P, Zoghbi HY, Clark HB, Orr HT.
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| J Neurochem 110(2):675-86. Epub 2009 May 15.PMID: 19500214 2009
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| 16 | ATXN1
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| Expansion of CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene in idiopathic oligozoospermia patients.
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| Lai YC, Wang WC, Yang JJ, Li SY.
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| J Assist Reprod Genet 26(5):257-61. Epub 2009 Jul 14.PMID: 19597981 2009
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| 17 | 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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| 18 | UBE2E1, ATXN1
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| UbcH6 interacts with and ubiquitinates the SCA1 gene product ataxin-1.
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| Hong S, Lee S, Cho SG, Kang S.
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| Biochem Biophys Res Commun 371(2):256-60. Epub 2008 Apr 24. 2008
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| 19 | ATXN1, UBE2E1
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| The ubiquitin-conjugating enzyme UbcH6 regulates the transcriptional repression activity of the SCA1 gene product ataxin-1.
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| Lee S, Hong S, Kang S.
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| Biochem Biophys Res Commun 372(4):735-40. Epub 2008 Jun 2.
2008
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| 20 | ATXN1, ATXN1L, SCA1
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| Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes.
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| Bowman AB, Lam YC, Jafar-Nejad P, Chen HK, Richman R, Samaco RC, Fryer JD, Kahle JJ, Orr HT, Zoghbi HY.
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| Nat Genet 39(3):373-379. Epub 2007 Feb 18. 2007
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| 21 | E4F1, ANP32A, ATXN1, ANBP32A
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| The role of LANP and ataxin 1 in E4F-mediated transcriptional repression.
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| Cvetanovic M, Rooney RJ, Garcia JJ, Toporovskaya N, Zoghbi HY, Opal P.
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| EMBO Rep 8(7):671-7. Epub 2007 Jun 8. 2007
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| 22 | ATXN1, HDAC4, MEF2A, MEF2B, MEF2C, MEF2D
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| The neurodegenerative disease protein ataxin-1 antagonizes the neuronal survival function of myocyte enhancer factor-2.
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| Bolger TA, Zhao X, Cohen TJ, Tsai CC, Yao TP.
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| J Biol Chem 282(40):29186-92. Epub 2007 Jul 23. 2007
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| 23 | ATXN1
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| The neurodegenerative disease protein ataxin-1 antagonizes the neuronal survival function of myocyte enhancer factor-2.
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| Bolger TA, Zhao X, Cohen TJ, Tsai CC, Yao TP.
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| J Biol Chem. 282(40):29186-92. 2007
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| 24 | 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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| 25 | CIC, SCA1, ATXN1
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| ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology.
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| Lam YC, Bowman AB, Jafar-Nejad P, Lim J, Richman R, Fryer JD, Hyun ED, Duvick LA, Orr HT, Botas J, Zoghbi HY.
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| Cell 127(7):1335-47. 2006
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| 26 | ATXN1
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| ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology.
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| Lam YC, Bowman AB, Jafar-Nejad P, Lim J, Richman R, Fryer JD, Hyun ED, Duvick LA, Orr HT, Botas J, Zoghbi HY.
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| Cell. 127(7):1335-47. 2006
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| 27 | ATXN1
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| CHIP protects from the neurotoxicity of expanded and wild-type ataxin-1 and promotes their ubiquitination and degradation.
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| Al-Ramahi I, Lam YC, Chen HK, de Gouyon B, Zhang M, Pérez AM, Branco J, de Haro M, Patterson C, Zoghbi HY, Botas J.
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| J Biol Chem. 281(36):26714-24. 2006
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| 28 | ATXN1
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| A cell-based screen for modulators of ataxin-1 phosphorylation.
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| Kaytor MD, Byam CE, Tousey SK, Stevens SD, Zoghbi HY, Orr HT.
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| Hum Mol Genet 14(8):1095-105. Epub 2005 Mar 9. 2005
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| 29 | ATXN1, SCA1
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| The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins.
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| Tsuda H, Jafar-Nejad H, Patel AJ, Sun Y, Chen HK, Rose MF, Venken KJ, Botas J, Orr HT, Bellen HJ, Zoghbi HY.
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| Cell 122(4):633-44. 2005
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| 30 | 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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| 31 | ATXN1
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| Identification of a novel phosphorylation site in ataxin-1.
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| Vierra-Green CA, Orr HT, Zoghbi HY, Ferrington DA.
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| Biochim Biophys Acta 1744(1):11-8. Epub 2004 Nov 10. 2005
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| 32 | ATXN1, ATXN1L
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| Boat, an AXH domain protein, suppresses the cytotoxicity of mutant ataxin-1.
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| Mizutani A, Wang L, Rajan H, Vig PJ, Alaynick WA, Thaler JP, Tsai CC.
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| EMBO J. 24(18):3339-51. 2005
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| 33 | ATXN1, NCOR2
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| Ataxin 1, a SCA1 neurodegenerative disorder protein, is functionally linked to the silencing mediator of retinoid and thyroid hormone receptors.
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| Tsai CC, Kao HY, Mitzutani A, Banayo E, Rajan H, McKeown M, Evans RM.
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| Proc Natl Acad Sci U S A 101(12):4047-52. Epub 2004 Mar 11. 2004
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| 34 | ATXN1
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| The structure of the AXH domain of spinocerebellar ataxin-1.
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| Chen YW, Allen MD, Veprintsev DB, Lowe J, Bycroft M.
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| J Biol Chem 279(5):3758-65. Epub 2003 Oct 28. 2004
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| 35 | ATXN1, YWHAB, YWHAE, YWHAH, YWHAZ
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| Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1.
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| Chen HK, Fernandez-Funez P, Acevedo SF, Lam YC, Kaytor MD, Fernandez MH, Aitken A, Skoulakis EM, Orr HT, Botas J, Zoghbi HY.
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| Cell 113(4):457-68. 2003
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| 36 | ATXN1, COIL
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| p80 coilin, a coiled body-specific protein, interacts with ataxin-1, the SCA1 gene product.
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| Hong S, Ka S, Kim S, Park Y, Kang S.
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| Biochim Biophys Acta 1638(1):35-42. 2003
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| 37 | ATXN1
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| Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1.
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| Chen HK, Fernandez-Funez P, Acevedo SF, Lam YC, Kaytor MD, Fernandez MH, Aitken A, Skoulakis EM, Orr HT, Botas J, Zoghbi HY.
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| Cell. 113(4):457-68. 2003
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| 38 | ATXN1
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| p80 coilin, a coiled body-specific protein, interacts with ataxin-1, the SCA1 gene product.
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| Hong S, Ka S, Kim S, Park Y, Kang S.
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| Biochim Biophys Acta. 1638(1):35-42. 2003
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| 39 | ATXN1
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| Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death.
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| Okazawa H, Rich T, Chang A, Lin X, Waragai M, Kajikawa M, Enokido Y, Komuro A, Kato S, Shibata M, Hatanaka H, Mouradian MM, Sudol M, Kanazawa I.
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| Neuron. 34(5):701-13. 2002
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| 40 | ATXN1
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| USP7, a ubiquitin-specific protease, interacts with ataxin-1, the SCA1 gene product.
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| Hong S, Kim SJ, Ka S, Choi I, Kang S.
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| Mol Cell Neurosci. 20(2):298-306. 2002
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| 41 | UBQLN4, ANP32A, ATXN1
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| The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract.
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| Yue S, Serra HG, Zoghbi HY, Orr HT.
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| Hum Mol Genet 10(1):25-30. 2001
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| 42 | ATXN1
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| Identification and characterization of an ataxin-1-interacting protein: A1Up, a ubiquitin-like nuclear protein.
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| Davidson JD, Riley B, Burright EN, Duvick LA, Zoghbi HY, Orr HT.
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| Hum Mol Genet. 9(15):2305-12 2000
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| 43 | 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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| 44 | ATXN3, ATXN1
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| 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.
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| J Neurol 246(9):789-97 1999
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| 45 | ATXN1
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| Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1.
|
| Cummings CJ, et al.
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| Nat Genet 19 : 148-154. 1998
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| 46 | ATN1, ATXN1, SCA2, SCA6
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| Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations.
|
| Takano H, et al.
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| Am J Hum Genet 63 : 1060-1066. 1998
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| 47 | ATXN1
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| Mitotic and meiotic instability of the CAG trinucleotide repeat in spinocerebellar ataxia type 1.
|
| Koefoed P, et al.
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| Hum Genet 103 : 564-569. 1998
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| 48 | ATXN1
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| Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice.
|
| Klement IA, Skinner PJ, Kaytor MD, Yi H, Hersch SM, Clark HB, Zoghbi HY, Orr HT.
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| Cell 95(1):41-53. 1998
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| 49 | ATXN1, SCA1
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| Identification of a self-association region within the SCA1 gene product, ataxin-1.
|
| Burright EN, et al.
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| Hum Mol Genet 6 : 513-518. 1997
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| 50 | 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.
|
| Hashida H, et al.
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| Ann Neurol 41 : 505-511. 1997
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| 51 | ATXN1
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| Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures.
|
| Skinner PJ, Koshy BT, Cummings CJ, Klement IA, Helin K, Servadio A, Zoghbi HY, Orr HT.
|
| Nature 389(6654):971-4. 1997
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| 52 | ATXN1
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| The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1.
|
| Matilla A, Koshy BT, Cummings CJ, Isobe T, Orr HT, Zoghbi HY.
|
| Nature. 389(6654):974-8. 1997
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| 53 | ATXN1
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| Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1).
|
| Banfi S, et al.
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| Hum Mol Genet 5 : 33-40. 1996
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| 54 | ATXN1
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| Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1.
|
| Goldfarb LG, et al.
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| Ann Neurol 39 : 500-506. 1996
|
| 55 | ATXN1, HTT
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| Genetic fitness in Huntington's disease and spinocerebellar ataxia 1 : a population genetics model for CAG repeat expansions.
|
| Frontali M, et al.
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| Ann Hum Genet 60 : 423-435. 1996
|
| 56 | ATXN1
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| Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase.
|
| Koshy B, Matilla T, Burright EN, Merry DE, Fischbeck KH, Orr HT, Zoghbi HY.
|
| Hum Mol Genet. 5(9):1311-8. 1996
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| 57 | ATXN1, HD, HTT, MJD
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| Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias.
|
| Trottier Y, Lutz Y, Stevanin G, Imbert G, Devys D, Cancel G, Saudou F, Weber C, David G, Tora L, et al.
|
| Nature 378 : 403-406. 1995
|
| 58 | ATXN1
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| A novel CAG repeat configuration in the SCA1 gene : implications for the molecular diagnostics of spinocerebellar ataxia type 1.
|
| Quan F, Janas J, Popovich BW.
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| Hum Mol Genet 4 : 2411-2413. 1995
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| 59 | ATXN1
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| Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1.
|
| Chong SS, McCall AE, Cota J, Subramony SH, Orr HT, Hughes MR, Zoghbi HY.
|
| Nat Genet 10 : 344-350. 1995
|
| 60 | ATXN1
|
| Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals.
|
| Servadio A, et al.
|
| Nat Genet 10 : 94-98. 1995
|
| 61 | AR, ATXN3, ATXN1
|
| Sequence variation and size ranges of CAG repeats in the Machado-Joseph disease, spinocerebellar ataxia type 1 and androgen receptor genes.
|
| Rubinsztein DC, et al.
|
| Hum Mol Genet 4 : 1585-1590. 1995
|
| 62 | ATXN1
|
| Evidence for the existence of a fourth dominantly inherited spinocerebellar ataxia locus.
|
| Lopes-Cendes I, et al.
|
| Genomics 21 : 270-274. 1994
|
| 63 | ATXN1
|
| Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I.
|
| Jodice C, et al.
|
| Am J Hum Genet 54 : 959-965. 1994
|
| 64 | ATXN1, D6S89
|
| A YAC contig in 6p23 based on sequence tagged sites.
|
| Nemani M, et al.
|
| Genomics 22 : 388-396. 1994
|
| 65 | ATXN1
|
| Identification and characterization of the gene causing type 1 spinocerebellar ataxia.
|
| Banfi S, et al.
|
| Nat Genet 7 : 513-519. 1994
|
| 66 | ATXN1
|
| Autosomal dominant spinocerebellar ataxia (SCA) in a Siberian founder population : assignement to the SCA1 locus.
|
| Lunkes A, et al.
|
| Exp Neurol 126 : 310-312. 1994
|
| 67 | ATXN1
|
| Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.
|
| Chung MY, et al.
|
| Nat Genet 5 : 254-258. 1993
|
| 68 | ATXN1
|
| Mapping and cloning of the critical region for the spinocerebellar ataxia type 1 gene (SCA1) in a yeast artificial chromosome contig spanning 1.2 Mb.
|
| Banfi S, et al.
|
| Genomics 18 : 627-635. 1993
|
| 69 | ATXN1
|
| Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias.
|
| Matilla T, et al.
|
| Hum Mol Genet 2 : 2123-2128. 1993
|
| 70 | ATXN1
|
| Molecular heterogeneity of autosomal dominant cerebellar ataxia : analysis of flanking microsatellites of the spinocerebellar ataxia 1 locus in a northern European family unequivocally demonstrates non-linkage.
|
| Lunkes A, et al.
|
| Hum Genet 91 : 362-366. 1993
|
| 71 | ATXN1
|
| Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.
|
| Orr HT, et al.
|
| Nat Genet 4 : 221-226. 1993
|
| 72 | ATXN1
|
| The gene for autosomal dominant spinocerebellar ataxia (SCAI) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus.
|
| Kwiatkowski TJ, et al.
|
| Am J Hum Genet 53 : 391-400. 1993
|
| 73 | ATXN1
|
| The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closelylinked highly polymorphic microsatellite loci.
|
| Jodice C, et al.
|
| Hum Mol Genet 2 : 1383-1387. 1993
|
| 74 | ATXN1, EDN1
|
| Endothelin 1 is not a candidate gene for spinal cerebellar ataxia 1.
|
| Cancel G, et al.
|
| Hum Mol Genet 2 : 1477-1479. 1993
|
| 75 | ATXN1, ATXN2, ATXN3
|
| Genetic heterogeneity of autosomal dominant cerebellar ataxia type I : evidence for the existence of a third locus.
|
| Stevanin G, et al.
|
| Hum Mol Genet 2 : 1483-1485. 1993
|
| 76 | ATXN1
|
| The Machado-Joseph disease locus is different from the spinocerebellar ataxia locus (SCA1).
|
| Carson WJ, et al.
|
| Genomics 13 : 852-855. 1992
|
| 77 | ATXN1
|
| Spinocerebellar ataxia : multipoint linkage analysis of genes associated with the disease locus.
|
| Wilkie PJ, et al.
|
| Hum Genet 87 : 405-408. 1991
|
| 78 | ATXN1
|
| Localization of the autosomal dominant HLA-linked spinocerebellar ataxia (SCAI) locus, in two kindreds, within an 8-cM subregion of chromosome 6p.
|
| Ranum LPW, et al.
|
| Am J Hum Genet 49 : 31-41. 1991
|
| 79 | ATXN1
|
| The gene for autosomal dominant spinocerebellar ataxia (SCAI) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds.
|
| Zoghbi HY, et al.
|
| Am J Hum Genet 49 : 23-30. 1991
|
| 80 | ATXN1
|
| SCA1 mapping within 2cM on 6p.
|
| Persichetti F, et al.
|
| (HGM11) Cytogenet Cell Genet 58 : 1915-1916. 1991
|
| 81 | ATXN1
|
| Preliminary results on an Italian collaborative study of linkage disequilibrium between SCA1 locus and D6S89 and D6S109.
|
| Terrenato L, et al.
|
| (HGM11) Cytogenet Cell Genet 58 : 1918. 1991
|
| 82 | ATXN1
|
| Genetic heterogeneity in autosomal dominant spinocerebellar ataxia: linkage mapping studies in a new kindred.
|
| Johnson WG, et al.
|
| (HGM11) Cytogenet Cell Genet 58 : 1912-1913. 1991
|
| 83 | ATXN1
|
| Tight linkage of the gene for spinocerebellar ataxia to D6S89 on the short arm of chromosome 6 in a kindred for which close linkage to both HLA and F13A1 is excluded.
|
| Keats BJB, et al.
|
| Am J Hum Genet 49 : 972-977. 1991
|
| 84 | ATXN1
|
| Spinocerebellar ataxia (SCA1) in two large Italian kindreds : evidence in favour of a locus position distal to GLO1 and the HLA cluster.
|
| Frontali M, et al.
|
| Ann Hum Genet 55 : 7-15. 1991
|
| 85 | D6S46, ATXN1
|
| Refinement of linkage for spinocerebellar ataxia (SCA1) using SSCP for analysis of GT repeats in TCTE (D6S46).
|
| Kwiatkowski TJ, et al.
|
| Am J Hum Genet 47 : A187. 1990
|
| 86 | ATXN1
|
| A linkage map of the short arm of human chromosome 6 : location of the gene autosomal dominant ataxia (SCA1).
|
| Rich SS, et al.
|
| Cytogenet Cell Genet 51 : 1066. 1989
|
| 87 | ATXN1, D6S4, D6S10, D11S288
|
| Dominantly inherited spinocerebellar ataxia (SCA1) linkage studies.
|
| Shrimpton AE, et al.
|
| (HGM10) Cytogenet Cell Genet 51 : 1080. 1989
|
| 88 | ATXN1
|
| Assignment of autosomal dominant spinocerebellar ataxia (SCAI) centromeric to the HLA region on the short arm of chromosome 6, using multilocus linkage analysis.
|
| Zoghbi HY, et al.
|
| Am J Hum Genet 44 : 255-263. 1989
|
| 89 | ATXN1
|
| Spinocerebellar ataxia : variable age of onset and linkage to human leukocyte antigen in a large kindred.
|
| Zoghbi HY, et al.
|
| Ann Neurol 23 : 580-584. 1988
|
| 90 | ATXN1
|
| The dominantly inherited spinocerebellar ataxia (SCA1) locus maps distally from HLA on chromosome 6.
|
| Kanazawa I, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 636. 1987
|
| 91 | ATXN1
|
| Linkage studies in spinocerebellar ataxia (SCA1).
|
| Zoghbi HY, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 727. 1987
|
| 92 | ATXN1
|
| Spinocerebellar ataxia : localization of the autosomal dominant HLA-linked form between two markers on human chromosome 6.
|
| Wilkie P, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 715. 1987
|
| 93 | ATXN1
|
| Linkage analysis in spinopontine atrophy : correlation of HLA linkage with phenotypic findings in hereditary ataxia.
|
| Bale AE, et al.
|
| Am J Med Genet 27 : 595-602. 1987
|
| 94 | ATXN1
|
| Spinocerebellar ataxia : localization of an autosomal dominant locus between two markers on human chromosome 6.
|
| Rich SS, et al.
|
| Am J Hum Genet 41 : 524-531. 1987
|
| 95 | ATXN1
|
| Multipoint linkage analysis of spinocerebellar ataxia and markers on chromosome 6.
|
| Haines JL, Trofatter JA.
|
| Genet Epidemiol 3 : 399-405. 1986
|
| 96 | ATXN1
|
| Hereditary cerebellar ataxia and genetic linkage with HLA.
|
| Kumar D, Blank CE, Gelsthorpe K.
|
| Hum Genet 72(4):327-32. 1986
|
| 97 | ATXN1
|
| Linkage studies in spinocerebellar ataxia (SCA).
|
| Morton NE, et al.
|
| Am J Med Genet 6 : 251-257. 1980
|
| 98 | ATXN1
|
| Spinocerebellar ataxia and HLA linkage. Risk prediction by HLA typing.
|
| Jackson JP, et al.
|
| N Engl J Med 296 : 1138-1141. 1977
|