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Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42.
Hashiguchi S, Doi H, Kunii M, Nakamura Y, Shimuta M, Suzuki E, Koyano S, Okubo M, Kishida H, Shiina M, Ogata K, Hirashima F, Inoue Y, Kubota S, Hayashi N, Nakamura H, Takahashi K, Katsumoto A, Tada M, Tanaka K, Sasaoka T, Miyatake S, Miyake N, Saitsu H, Sato N, Ozaki K, Ohta K, Yokota T, Mizusawa H, Mitsui J, Ishiura H, Yoshimura J, Morishita S, Tsuji S, Takeuchi H, Ishikawa K, Matsumoto N, Ishikawa T, Tanaka F. Hashiguchi S, et al. Among authors: yokota t. Neurobiol Dis. 2019 Oct;130:104516. doi: 10.1016/j.nbd.2019.104516. Epub 2019 Jun 20. Neurobiol Dis. 2019. PMID: 31229688
An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains.
Ishikawa K, Toru S, Tsunemi T, Li M, Kobayashi K, Yokota T, Amino T, Owada K, Fujigasaki H, Sakamoto M, Tomimitsu H, Takashima M, Kumagai J, Noguchi Y, Kawashima Y, Ohkoshi N, Ishida G, Gomyoda M, Yoshida M, Hashizume Y, Saito Y, Murayama S, Yamanouchi H, Mizutani T, Kondo I, Toda T, Mizusawa H. Ishikawa K, et al. Among authors: yokota t. Am J Hum Genet. 2005 Aug;77(2):280-96. doi: 10.1086/432518. Epub 2005 Jul 6. Am J Hum Genet. 2005. PMID: 16001362 Free PMC article.
2,393 results