K
Kiyoshi Iwabuchi
Researcher at Yokohama City University
Publications - 37
Citations - 2432
Kiyoshi Iwabuchi is an academic researcher from Yokohama City University. The author has contributed to research in topics: Spinocerebellar ataxia & Trinucleotide repeat expansion. The author has an hindex of 21, co-authored 36 publications receiving 2337 citations.
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Journal ArticleDOI
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.
Kazuhiro Sanpei,Hiroki Takano,Shuichi Igarashi,Tomoe Sato,Mutsuo Oyake,Hidenao Sasaki,Akemi Wakisaka,Kunio Tashiro,Y Ishida,Takeshi Ikeuchi,Reiji Koide,Masaaki Saito,Aki Sato,Toshihisa Tanaka,S Hanyu,Yoshihisa Takiyama,Masatoyo Nishizawa,N Shimizu,Yoshiko Nomura,Masaya Segawa,Kiyoshi Iwabuchi,I. Eguchi,Hirosato Tanaka,Hitoshi Takahashi,Shoji Tsuji +24 more
TL;DR: A novel strategy, the direct identification of repeat expansion and cloning technique (DIRECT), which allows selective detection of expanded GAG repeats and cloning of the genes involved and will dramatically accelerate the search for causative genes of neuropsychiatric diseases caused by trinucleotide repeat expansions.
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Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene
Hidetoshi Date,Osamu Onodera,Hajime Tanaka,Kiyoshi Iwabuchi,Kazutoshi Uekawa,Shuichi Igarashi,Ryoko Koike,Tadashi Hiroi,Tatsuhiko Yuasa,Yutaka Awaya,Tetsuo Sakai,Tatsuya Takahashi,Hideki Nagatomo,Yoshiki Sekijima,Izumi Kawachi,Yoshihisa Takiyama,Masatoyo Nishizawa,Nobuyoshi Fukuhara,Kayoko Saito,Sumio Sugano,Shoji Tsuji +20 more
TL;DR: A new gene encoding a member of the histidine triad (HIT) superfamily as the 'causative' gene is identified and called aprataxin; the gene symbol is APTX and it is the first to be linked to a distinct phenotype.
Journal ArticleDOI
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
Giovanni Stevanin,Hamid Azzedine,Paola S. Denora,Amir Boukhris,Meriem Tazir,Alexander Lossos,Alberto Luis Rosa,Israela Lerer,Abdelmadjid Hamri,Paulo Alegria,José Leal Loureiro,Masayoshi Tada,Didier Hannequin,Mathieu Anheim,Cyril Goizet,Victoria Gonzalez-Martinez,Isabelle Le Ber,Sylvie Forlani,Kiyoshi Iwabuchi,Vardiela Meiner,G. Uyanik,Anne Kjersti Erichsen,Imed Feki,Florence Pasquier,Soreya Belarbi,Vítor Tedim Cruz,Christel Depienne,Jeremy Truchetto,Guillaume Garrigues,Chantal M. E. Tallaksen,Christine Tranchant,Masatoyo Nishizawa,José Vale,Paula Coutinho,Filippo M. Santorelli,Chokri Mhiri,Alexis Brice,Alexandra Durr +37 more
TL;DR: The study reveals the high frequency of SPG11 mutations in patients with HSP, a TCC and cognitive impairment, including in isolated patients, and extends the associated phenotype.
Journal ArticleDOI
Neuronal intranuclear inclusions in spinocerebellar ataxia type 2: triple-labeling immunofluorescent study
Shigeru Koyano,Toshiki Uchihara,Hiroto Fujigasaki,Ayako Nakamura,Saburo Yagishita,Kiyoshi Iwabuchi +5 more
TL;DR: Triple-labeling immunofluorescence revealed that ataxin-2, expanded polyglutamine and ubiquitin were colocalized to these neuronal intranuclear inclusions (NIs), indicating that SCA2 shares morphological characteristics common to other neurological disorders associated with an expansion of CAG/polyglutamines-repeat.
Journal ArticleDOI
Ataxin-3 is translocated into the nucleus for the formation of intranuclear inclusions in normal and Machado-Joseph disease brains.
Hiroto Fujigasaki,Toshiki Uchihara,Shigeru Koyano,Kiyoshi Iwabuchi,Saburo Yagishita,Takao Makifuchi,Ayako Nakamura,Kazuyuki Ishida,Shuta Toru,Shunsaku Hirai,Kinya Ishikawa,Tsutomu Tanabe,Hidehiro Mizusawa +12 more
TL;DR: Recruitment of ataxin-3 into the nucleus and formation of nuclear inclusion under two different conditions suggest that ataxIn-3 may be translocated into theucleus under certain conditions stressful on neuronal cells such as aging and polyglutamine neurotoxicity.