| 1 | SCA17, TBP
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| Deactivation of TBP contributes to SCA17 pathogenesis.
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| Hsu TC, Wang CK, Yang CY, Lee LC, Hsieh-Li HM, Ro LS, Chen CM, Lee-Chen GJ, Su MT.
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| Hum Mol Genet. Dec 20;23(25):6878-93. doi: 10.1093/hmg/ddu410. Epub 2014 Aug 7 2014
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| 2 | NFYA, SCA17, TBP
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| Role of the CCAAT-binding protein NFY in SCA17 pathogenesis.
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| Lee LC, Chen CM, Wang HC, Hsieh HH, Chiu IS, Su MT, Hsieh-Li HM, Wu CH, Lee GC, Lee-Chen GJ, Lin JY.
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| PLoS One 7(4):e35302. doi: 10.1371/journal.pone.0035302. Epub 2012 Apr 17.
2012
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| 3 | SCA17, TBP
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| Neuroprotective effects of granulocyte-colony stimulating factor in a novel transgenic mouse model of SCA17.
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| Chang YC, Lin CY, Hsu CM, Lin HC, Chen YH, Lee-Chen GJ, Su MT, Ro LS, Chen CM, Hsieh-Li HM.
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| J Neurochem 118(2):288-303. doi: 10.1111/j.1471-4159.2011.07304.x. Epub 2011 Jun 2.
2011
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| 4 | SCA17, SCA2, SCA3
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| Relative contribution of SCA2, SCA3 and SCA17 in Korean patients with parkinsonism and ataxia.
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| Yun JY, Lee WW, Kim HJ, Kim JS, Kim JM, Kim HJ, Kim SY, Kim JY, Park SS, Kim YK, Kim SE, Jeon BS.
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| Parkinsonism Relat Disord 17(5):338-42. doi: 10.1016/j.parkreldis.2011.01.015. Epub 2011 Feb 19.
2011
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| 5 | SCA17, TBP
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| SCA17 repeat expansion: mildly expanded CAG/CAA repeat alleles in neurological disorders and the functional implications.
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| Chen CM, Lee LC, Soong BW, Fung HC, Hsu WC, Lin PY, Huang HJ, Chen FL, Lin CY, Lee-Chen GJ, Wu YR.
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| Clin Chim Acta 411(5-6):375-80. doi: 10.1016/j.cca.2009.12.002. Epub 2009 Dec 11.
2010
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| 6 | SCA17, TBP
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| Spinocerebellar ataxia type 17 mutation as a causative and susceptibility gene in parkinsonism.
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| Kim JY, Kim SY, Kim JM, Kim YK, Yoon KY, Kim JY, Lee BC, Kim JS, Paek SH, Park SS, Kim SE, Jeon BS.
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| Neurology 72(16):1385-9.
2009
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| 7 | SCA17
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| Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17.
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| Gao R, Matsuura T, Coolbaugh M, ZŸhlke C, Nakamura K, Rasmussen A, Siciliano MJ, Ashizawa T, Lin X.
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| Eur J Hum Genet 16(2):215-22. Epub 2007 Nov 28. 2008
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| 8 | SCA17, TBP
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| Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach.
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| Tomiuk J, Bachmann L, Bauer C, Rolfs A, Schols L, Roos C, Zischler H, Schuler MM, Bruntner S, Riess O, Bauer P.
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| Eur J Hum Genet 15(1):81-7. Epub 2006 Oct 11. 2007
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| 9 | SCA17, TBP
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| Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17.
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| Rasmussen A, De Biase I, Fragoso-Benítez M, Macías-Flores MA, Yescas P, Ochoa A, Ashizawa T, Alonso ME, Bidichandani SI.
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| Ann Neurol 61(6):607-10.
2007
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| 10 | SCA17, TBP
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| Eye movement abnormalities in spinocerebellar ataxia type 17 (SCA17).
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| Hübner J, Sprenger A, Klein C, Hagenah J, Rambold H, Zühlke C, Kömpf D, Rolfs A, Kimmig H, Helmchen C.
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| Neurology 69(11):1160-8.
2007
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| 11 | SCA17
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| Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients.
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| Mariotti C, Alpini D, Fancellu R, Soliveri P, Grisoli M, Ravaglia S, Lovati C, Fetoni V, Giaccone G, Castucci A, Taroni F, Gellera C, Di Donato S.
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| J Neurol 254(11):1538-46. Epub 2007 Oct 15.PMID: 17934876 2007
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| 12 | SCA17
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| Phenotypic homogeneity of the Huntington disease-like presentation in a SCA17 family.
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| Schneider SA, van de Warrenburg BP, Hughes TD, Davis M, Sweeney M, Wood N, Quinn NP, Bhatia KP.
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| Neurology 67(9):1701-3.
2006
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| 13 | 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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| 14 | SCA17
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| Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17).
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| Lasek K, Lencer R, Gaser C, Hagenah J, Walter U, Wolters A, Kock N, Steinlechner S, Nagel M, ZŸhlke C, Nitschke MF, Brockmann K, Klein C, Rolfs A, Binkofski F.
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| Brain 129(Pt 9):2341-52. Epub 2006 Jun 7. 2006
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| 15 | 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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| 16 | SCA8, SCA17
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| Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease.
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| Wu YR, Lin HY, Chen CM, Gwinn-Hardy K, Ro LS, Wang YC, Li SH, Hwang JC, Fang K, Hsieh-Li HM, Li ML, Tung LC, Su MT, Lu KT, Lee-Chen GJ.
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| Clin Genet 65(3):209-14. 2004
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| 17 | SCA17
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| Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype.
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| Bauer P, Laccone F, Rolfs A, Wullner U, Bosch S, Peters H, Liebscher S, Scheible M, Epplen JT, Weber BH, Holinski-Feder E, Weirich-Schwaiger H, Morris-Rosendahl DJ, Andrich J, Riess O.
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| J Med Genet 41(3):230-2. No abstract available. 2004
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| 18 | SCA17, TBP
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| Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease.
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| Shatunov A, Fridman EA, Pagan FI, Leib J, Singleton A, Hallett M, Goldfarb LG.
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| Clin Genet 66(6):496-501. 2004
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| 19 | SCA17, TBP
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| SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6.
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| Zuhlke CH, Spranger M, Spranger S, Voigt R, Lanz M, Gehlken U, Hinrichs F, Schwinger E.
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| Eur J Hum Genet 11(8):629-32. 2003
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| 20 | SCA17
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| Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17).
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| Rolfs A, Koeppen AH, Bauer I, Bauer P, Buhlmann S, Topka H, Schols L, Riess O.
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| Ann Neurol 54(3):367-75. 2003
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| 21 | SCA17, TBP
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| SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein.
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| Nakamura K, Jeong SY, Uchihara T, Anno M, Nagashima K, Nagashima T, Ikeda S, Tsuji S, Kanazawa I.
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| Hum Mol Genet 10(14):1441-8. 2001
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| 22 | SCA17, TBP
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| CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia.
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| Fujigasaki H, Martin JJ, De Deyn PP, Camuzat A, Deffond D, Stevanin G, Dermaut B, Van Broeckhoven C, Durr A, Brice A.
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| Brain 124(Pt 10):1939-47. 2001
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