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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: nishizawa m. Nat Genet. 2000 Sep;26(1):29-36. doi: 10.1038/79139. Nat Genet. 2000. PMID: 10973244
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.
Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, Wakisaka A, Tashiro K, Ishida Y, Ikeuchi T, Koide R, Saito M, Sato A, Tanaka T, Hanyu S, Takiyama Y, Nishizawa M, Shimizu N, Nomura Y, Segawa M, Iwabuchi K, Eguchi I, Tanaka H, Takahashi H, Tsuji S. Sanpei K, et al. Among authors: nishizawa m. Nat Genet. 1996 Nov;14(3):277-84. doi: 10.1038/ng1196-277. Nat Genet. 1996. PMID: 8896556
Single sperm analysis of the CAG repeats in the gene for Machado-Joseph disease (MJD1): evidence for non-Mendelian transmission of the MJD1 gene and for the effect of the intragenic CGG/GGG polymorphism on the intergenerational instability.
Takiyama Y, Sakoe K, Soutome M, Namekawa M, Ogawa T, Nakano I, Igarashi S, Oyake M, Tanaka H, Tsuji S, Nishizawa M. Takiyama Y, et al. Among authors: nishizawa m. Hum Mol Genet. 1997 Jul;6(7):1063-8. doi: 10.1093/hmg/6.7.1063. Hum Mol Genet. 1997. PMID: 9215676
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, Cancel G, Ikeuchi T, Lorenzetti D, Mawad R, Stevanin G, Didierjean O, Dürr A, Oyake M, Shimohata T, Sasaki R, Koide R, Igarashi S, Hayashi S, Takiyama Y, Nishizawa M, Tanaka H, Zoghbi H, Brice A, Tsuji S. Takano H, et al. Among authors: nishizawa m. Am J Hum Genet. 1998 Oct;63(4):1060-6. doi: 10.1086/302067. Am J Hum Genet. 1998. PMID: 9758625 Free PMC article.
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.
Date H, Onodera O, Tanaka H, Iwabuchi K, Uekawa K, Igarashi S, Koike R, Hiroi T, Yuasa T, Awaya Y, Sakai T, Takahashi T, Nagatomo H, Sekijima Y, Kawachi I, Takiyama Y, Nishizawa M, Fukuhara N, Saito K, Sugano S, Tsuji S. Date H, et al. Among authors: nishizawa m. Nat Genet. 2001 Oct;29(2):184-8. doi: 10.1038/ng1001-184. Nat Genet. 2001. PMID: 11586299
Multiplex families with multiple system atrophy.
Hara K, Momose Y, Tokiguchi S, Shimohata M, Terajima K, Onodera O, Kakita A, Yamada M, Takahashi H, Hirasawa M, Mizuno Y, Ogata K, Goto J, Kanazawa I, Nishizawa M, Tsuji S. Hara K, et al. Among authors: nishizawa m. Arch Neurol. 2007 Apr;64(4):545-51. doi: 10.1001/archneur.64.4.545. Arch Neurol. 2007. PMID: 17420317
1,155 results