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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. Ishikawa K, et al. Among authors: kanazawa i. Am J Hum Genet. 1997 Aug;61(2):336-46. doi: 10.1086/514867. Am J Hum Genet. 1997. PMID: 9311738 Free PMC article.
A unique origin and multistep process for the generation of expanded DRPLA triplet repeats.
Yanagisawa H, Fujii K, Nagafuchi S, Nakahori Y, Nakagome Y, Akane A, Nakamura M, Sano A, Komure O, Kondo I, Jin DK, Sørensen SA, Potter NT, Young SR, Nakamura K, Nukina N, Nagao Y, Tadokoro K, Okuyama T, Miyashita T, Inoue T, Kanazawa I, Yamada M. Yanagisawa H, et al. Among authors: kanazawa i. Hum Mol Genet. 1996 Mar;5(3):373-9. doi: 10.1093/hmg/5.3.373. Hum Mol Genet. 1996. PMID: 8852663
Expanded polyglutamine stretches interact with TAFII130, interfering with CREB-dependent transcription.
Shimohata T, Nakajima T, Yamada M, Uchida C, Onodera O, Naruse S, Kimura T, Koide R, Nozaki K, Sano Y, Ishiguro H, Sakoe K, Ooshima T, Sato A, Ikeuchi T, Oyake M, Sato T, Aoyagi Y, Hozumi I, Nagatsu T, Takiyama Y, Nishizawa M, Goto J, Kanazawa I, Davidson I, Tanese N, Takahashi H, Tsuji S. Shimohata T, et al. Among authors: kanazawa i. Nat Genet. 2000 Sep;26(1):29-36. doi: 10.1038/79139. Nat Genet. 2000. PMID: 10973244
The genomic structure and expression of MJD, the Machado-Joseph disease gene.
Ichikawa Y, Goto J, Hattori M, Toyoda A, Ishii K, Jeong SY, Hashida H, Masuda N, Ogata K, Kasai F, Hirai M, Maciel P, Rouleau GA, Sakaki Y, Kanazawa I. Ichikawa Y, et al. Among authors: kanazawa i. J Hum Genet. 2001;46(7):413-22. doi: 10.1007/s100380170060. J Hum Genet. 2001. PMID: 11450850
663 results