S
Satoko Kumada
Researcher at Yamagata University
Publications - 82
Citations - 2025
Satoko Kumada is an academic researcher from Yamagata University. The author has contributed to research in topics: Medicine & Exome sequencing. The author has an hindex of 20, co-authored 72 publications receiving 1724 citations. Previous affiliations of Satoko Kumada include University of Tokyo & Tokyo Medical and Dental University.
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Journal ArticleDOI
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
Hirotomo Saitsu,Mitsuhiro Kato,Takeshi Mizuguchi,Keisuke Hamada,Hitoshi Osaka,Jun Tohyama,Katsuhisa Uruno,Satoko Kumada,Kiyomi Nishiyama,Akira Nishimura,Ippei Okada,Yukiko Yoshimura,Syu-ichi Hirai,Tatsuro Kumada,Kiyoshi Hayasaka,Atsuo Fukuda,Kazuhiro Ogata,Naomichi Matsumoto +17 more
TL;DR: Findings suggest that haploinsufficiency of STXBP1 causes early infantile epileptic encephalopathy with suppression-burst, and that a mutant form of the protein was significantly thermolabile compared to wild type.
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De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood
Hirotomo Saitsu,Taki Nishimura,Taki Nishimura,Kazuhiro Muramatsu,Hirofumi Kodera,Satoko Kumada,Kenji Sugai,Emi Kasai-Yoshida,Noriko Sawaura,Hiroya Nishida,Ai Hoshino,Fukiko Ryujin,Seiichiro Yoshioka,Kiyomi Nishiyama,Yukiko Kondo,Yoshinori Tsurusaki,Mitsuko Nakashima,Noriko Miyake,Hirokazu Arakawa,Mitsuhiro Kato,Noboru Mizushima,Noboru Mizushima,Naomichi Matsumoto +22 more
TL;DR: Findings provide direct evidence that an autophagy defect is indeed associated with a neurodegenerative disorder in humans.
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Oxidative stress in patients with clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS)
Rie Miyata,Naoyuki Tanuma,Masaharu Hayashi,Takuji Imamura,Jun-ichi Takanashi,Rieko Nagata,Akihisa Okumura,Hirohumi Kashii,Sunao Tomita,Satoko Kumada,Masaya Kubota +10 more
TL;DR: The disequilibrium of systemic metabolism including electrolytes may lead to facilitation of oxidative stress and reversible white matter lesion in MERS, and the increase of cytokine production seems to be involved in the distribution of lesions in Mers.
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Oxidative stress and disturbed glutamate transport in spinal muscular atrophy.
Masaharu Hayashi,Satoshi Araki,Nobutaka Arai,Satoko Kumada,Masahiro Itoh,Kimiko Tamagawa,Masaya Oda,Yoshio Morimatsu +7 more
TL;DR: Examination of expressions of oxidative stress-related materials and glutamate transporters in autopsy cases of SMA type 1 suggest that oxidative stress and disturbed glutamate transport can partly be involved in the motor neuron devastation and/or latent thalamic degeneration in SMAtype 1.
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Autonomic dysfunction in cases of spinal muscular atrophy type 1 with long survival.
Yasuo Hachiya,Hidee Arai,Masaharu Hayashi,Satoko Kumada,Wakana Furushima,Eiko Ohtsuka,Yasushi Ito,Akira Uchiyama,Kiyoko Kurata +8 more
TL;DR: The findings suggest that autonomic dysfunction should be examined in SMA type 1 patients with long survival, although the pathogenesis remains to be clarified.