K
Kumi Sakoe
Researcher at Jichi Medical University
Publications - 30
Citations - 1557
Kumi Sakoe is an academic researcher from Jichi Medical University. The author has contributed to research in topics: Ataxia & Cerebellar ataxia. The author has an hindex of 22, co-authored 30 publications receiving 1484 citations. Previous affiliations of Kumi Sakoe include University of Yamanashi.
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Journal ArticleDOI
Expanded polyglutamine stretches interact with TAFII130, interfering with CREB-dependent transcription.
Takayoshi Shimohata,Toshihiro Nakajima,Mitsunori Yamada,Chiharu Uchida,Osamu Onodera,Satoshi Naruse,T. Kimura,Reiji Koide,Kenkichi Nozaki,Yasuteru Sano,Hiroshi Ishiguro,Kumi Sakoe,Takayuki Ooshima,Aki Sato,Takeshi Ikeuchi,Mutsuo Oyake,Toshiya Sato,Yasuyuki Aoyagi,Isao Hozumi,Toshiharu Nagatsu,Yoshihisa Takiyama,Masatoyo Nishizawa,Jun Goto,Ichiro Kanazawa,Irwin Davidson,Naoko Tanese,Hitoshi Takahashi,Shoji Tsuji +27 more
TL;DR: Results indicate that interference of transcription by the binding of TAFII130 with expanded polyQ stretches is involved in the pathogenetic mechanisms underlying neurodegeneration.
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Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease.
Michito Namekawa,Yoshihisa Takiyama,Yoko Aoki,Norio Takayashiki,Kumi Sakoe,Haruo Shimazaki,Tomohiro Taguchi,Yasufumi Tanaka,Masatoyo Nishizawa,Ken Saito,Yoichi Matsubara,Imaharu Nakano +11 more
TL;DR: A novel missense mutation of a G‐to‐T transition at nucleotide 841 in the GFAP gene that results in the substitution of arginine for leucine at amino acid residue 276 (R276L) is found, suggesting a common molecular mechanism underlies the three Alexander's disease subtypes.
Journal ArticleDOI
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: The aprataxin gene mutations
Haruo Shimazaki,Yoshihisa Takiyama,Kumi Sakoe,K. Ikeguchi,Kenji Niijima,J. Kaneko,Michito Namekawa,T. Ogawa,Hidetoshi Date,Shoji Tsuji,Imaharu Nakano,Masatoyo Nishizawa +11 more
TL;DR: Clinical heterogeneity in the patients with EAOH was found, including one insertion and two missense mutations including a novel missense one, which was located at a highly conserved amino acid residue in the aprataxin gene product.
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A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)
Haruo Shimazaki,Yoshihisa Takiyama,Hiroyuki Ishiura,Chika Sakai,Yuichi Matsushima,Hideyuki Hatakeyama,Junko Honda,Kumi Sakoe,Tametou Naoi,Michito Namekawa,Yoko Fukuda,Yuji Takahashi,Jun Goto,Shoji Tsuji,Yu-ichi Goto,Imaharu Nakano +15 more
TL;DR: This novel nonsense mutation in C12orf65 could cause AR-HSP with optic atrophy and neuropathy, resulting in a premature stop codon and dysfunction of mitochondrial translation could be one of the pathogenic mechanisms underlying HSPs.
Journal ArticleDOI
Identification of a SACS gene missense mutation in ARSACS
T. Ogawa,Yoshihisa Takiyama,Kumi Sakoe,K. Mori,Michito Namekawa,Haruo Shimazaki,Imaharu Nakano,Masatoyo Nishizawa +7 more
TL;DR: The authors identified a homozygous missense mutation (T7492C) in the SACS gene, which resulted in the substitution of arginine for tryptophan at amino acid residue 2498 (W2498R).