| 1 | 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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| 2 | 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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| 3 | 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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| 4 | 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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| 5 | 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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| 6 | 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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| 7 | 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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| 8 | 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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| 9 | 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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| 10 | 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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| 11 | ATXN1, SCA1
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| Identification of a self-association region within the SCA1 gene product, ataxin-1.
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| Burright EN, et al.
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| Hum Mol Genet 6 : 513-518. 1997
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| 12 | EDN1, GMPR, SCA1, DEK
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| An integrated map of human chromosome 6p23.
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| Olavesen MG, et al.
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| Genome Res 5 : 342-358. 1995
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