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4. DnaJ-1 and karyopherin α3 suppress degeneration in a new Drosophila model of Spinocerebellar Ataxia Type 6. Tsou WL, Hosking RR, Burr AA, Sutton JR, Ouyang M, Du X, Gomez CM, Todi SV. Hum Mol Genet; 2015 Aug 01; 24(15):4385-96. PubMed ID: 25954029 [Abstract] [Full Text] [Related]
5. Bicistronic CACNA1A Gene Expression in Neurons Derived from Spinocerebellar Ataxia Type 6 Patient-Induced Pluripotent Stem Cells. Bavassano C, Eigentler A, Stanika R, Obermair GJ, Boesch S, Dechant G, Nat R. Stem Cells Dev; 2017 Nov 15; 26(22):1612-1625. PubMed ID: 28946818 [Abstract] [Full Text] [Related]
6. Second cistron in CACNA1A gene encodes a transcription factor mediating cerebellar development and SCA6. Du X, Wang J, Zhu H, Rinaldo L, Lamar KM, Palmenberg AC, Hansel C, Gomez CM. Cell; 2013 Jul 03; 154(1):118-33. PubMed ID: 23827678 [Abstract] [Full Text] [Related]
7. The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes. Restituito S, Thompson RM, Eliet J, Raike RS, Riedl M, Charnet P, Gomez CM. J Neurosci; 2000 Sep 01; 20(17):6394-403. PubMed ID: 10964945 [Abstract] [Full Text] [Related]
8. Increased expression of alpha 1A Ca2+ channel currents arising from expanded trinucleotide repeats in spinocerebellar ataxia type 6. Piedras-Renteria ES, Watase K, Harata N, Zhuchenko O, Zoghbi HY, Lee CC, Tsien RW. J Neurosci; 2001 Dec 01; 21(23):9185-93. PubMed ID: 11717352 [Abstract] [Full Text] [Related]
9. Spinocerebellar ataxia type 6. Solodkin A, Gomez CM. Handb Clin Neurol; 2012 Dec 01; 103():461-73. PubMed ID: 21827907 [Abstract] [Full Text] [Related]
10. Molecular pathogenesis of spinocerebellar ataxia type 6. Kordasiewicz HB, Gomez CM. Neurotherapeutics; 2007 Apr 01; 4(2):285-94. PubMed ID: 17395139 [Abstract] [Full Text] [Related]
11. Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6. Ishikawa K, Fujigasaki H, Saegusa H, Ohwada K, Fujita T, Iwamoto H, Komatsuzaki Y, Toru S, Toriyama H, Watanabe M, Ohkoshi N, Shoji S, Kanazawa I, Tanabe T, Mizusawa H. Hum Mol Genet; 1999 Jul 01; 8(7):1185-93. PubMed ID: 10369863 [Abstract] [Full Text] [Related]
12. Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1. Ishikawa K, Tanaka H, Saito M, Ohkoshi N, Fujita T, Yoshizawa K, Ikeuchi T, Watanabe M, Hayashi A, Takiyama Y, Nishizawa M, Nakano I, Matsubayashi K, Miwa M, Shoji S, Kanazawa I, Tsuji S, Mizusawa H. Am J Hum Genet; 1997 Aug 01; 61(2):336-46. PubMed ID: 9311738 [Abstract] [Full Text] [Related]
13. Genetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia. García-Planells J, Cuesta A, Vilchez JJ, Martínez F, Prieto F, Palau F. J Med Genet; 1999 Feb 01; 36(2):148-51. PubMed ID: 10051016 [Abstract] [Full Text] [Related]
14. [SCA6: From gene identification to recent progress on pathogenesis]. Watase K, Ishikawa K, Mizusawa H. Rinsho Shinkeigaku; 2010 Nov 01; 50(11):858-60. PubMed ID: 21921472 [Abstract] [Full Text] [Related]
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16. Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders. Mantuano E, Veneziano L, Jodice C, Frontali M. Cytogenet Genome Res; 2003 Sep 02; 100(1-4):147-53. PubMed ID: 14526175 [Abstract] [Full Text] [Related]
17. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Brusco A, Gellera C, Cagnoli C, Saluto A, Castucci A, Michielotto C, Fetoni V, Mariotti C, Migone N, Di Donato S, Taroni F. Arch Neurol; 2004 May 02; 61(5):727-33. PubMed ID: 15148151 [Abstract] [Full Text] [Related]