Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Shota Shibata"'
Autor:
Zachariah L. McLean, Dadi Gao, Kevin Correia, Jennie C. L. Roy, Shota Shibata, Iris N. Farnum, Zoe Valdepenas-Mellor, Marina Kovalenko, Manasa Rapuru, Elisabetta Morini, Jayla Ruliera, Tammy Gillis, Diane Lucente, Benjamin P. Kleinstiver, Jong-Min Lee, Marcy E. MacDonald, Vanessa C. Wheeler, Ricardo Mouro Pinto, James F. Gusella
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Abstract Huntington’s disease (HD) is a dominant neurological disorder caused by an expanded HTT exon 1 CAG repeat that lengthens huntingtin’s polyglutamine tract. Lowering mutant huntingtin has been proposed for treating HD, but genetic modifier
Externí odkaz:
https://doaj.org/article/04c90e61e38c4922b3fb3425418eb127
Autor:
Masanori Kurihara, Tatsuo Mano, Fumihiro Eto, Ikuko Yao, Kenichiro Sato, Gaku Ohtomo, Taro Bannai, Shota Shibata, Hiroyuki Ishiura, Masako Ikemura, Tomoyasu Matsubara, Maho Morishima, Yuko Saito, Shigeo Murayama, Tatsushi Toda, Mitsutoshi Setou, Atsushi Iwata
Publikováno v:
Neurobiology of Disease, Vol 177, Iss , Pp 105989- (2023)
Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in the neurons, glial cells, and other somatic cells. Although CGG repeat expansions in NOTCH2NLC have been id
Externí odkaz:
https://doaj.org/article/804e837d61b44f6ab279139ab2c09bff
Autor:
Takahiro Itamiya, Toshihiko Komai, Hiroko Kanda, Yasuo Nagafuchi, Hyangri Chang, Shota Shibata, Hiroyuki Ishiura, Hirofumi Shoda, Tatsushi Toda, Keishi Fujio
Publikováno v:
Clinical Rheumatology. 41:2233-2237
There have been hundreds of reports on mutations in the NLRP3 gene related to NLRP3-associated autoinflammatory disease, but few of these mutations have occurred as both germline and somatic mosaic mutations. In this case-based review, we report a 68
Autor:
Masanori Kurihara, Hiroki Komatsu, Renpei Sengoku, Mari Shibukawa, Satoru Morimoto, Tomoyasu Matsubara, Akira Arakawa, Makoto Orita, Kenji Ishibashi, Akihiko Mitsutake, Shota Shibata, Hiroyuki Ishiura, Kaori Adachi, Kensuke Ohse, Keiko Hatano, Ryoko Ihara, Mana Higashihara, Yasushi Nishina, Aya Midori Tokumaru, Kenji Ishii, Yuko Saito, Shigeo Murayama, Kazutomi Kanemaru, Atsushi Iwata
Publikováno v:
Neurology.
CSF tau phosphorylated at threonine 181 (p-tau181) is a widely used biomarker for Alzheimer's disease (AD) and has recently been regarded to reflect amyloid-beta and/or p-tau deposition in the AD brain. Neuronal intranuclear inclusion disease (NIID)
Autor:
Takahiro Shimizu, Hiroyuki Ishiura, Manato Hara, Shota Shibata, Atsushi Unuma, Akatsuki Kubota, Kaori Sakuishi, Kiyoharu Inoue, Jun Goto, Yuji Takahashi, Yuichiro Shirota, Masashi Hamada, Jun Shimizu, Shoji Tsuji, Tatsushi Toda
Publikováno v:
MusclenerveREFERENCES. 66(6)
Heterozygous CGG repeat expansions in low-density lipoprotein receptor-related protein 12 (LRP12) have recently been identified as a cause of oculopharyngodistal myopathy (OPDM), and the disease is designated as OPDM type 1 (OPDM1). In contrast to br
Autor:
Masanori Kurihara, Tatsuo Mano, Fumihiro Eto, Ikuko Yao, Kenichiro Sato, Gaku Ohtomo, Taro Bannai, Shota Shibata, Hiroyuki Ishiura, Masako Ikemura, Tomoyasu Matsubara, Maho Morishima, Yuko Saito, Shigeo Murayama, Tatsushi Toda, Mitsutoshi Setou, Atsushi Iwata
Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in the neurons, glial cells, and other somatic cells. Although CGG repeat expansions in NOTCH2NLC have been id
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::412d733614a93b187a29ef163270b887
https://doi.org/10.1101/2022.07.08.499227
https://doi.org/10.1101/2022.07.08.499227
Autor:
Masanori Kurihara, Hiroki Komatsu, Renpei Sengoku, Mari Shibukawa, Satoru Morimoto, Tomoyasu Matsubara, Akira Arakawa, Makoto Orita, Kenji Ishibashi, Akihiko Mitsutake, Shota Shibata, Hiroyuki Ishiura, Kaori Adachi, Kensuke Ohse, Keiko Hatano, Ryoko Ihara, Mana Higashihara, Yasushi Nishina, Aya Midori Tokumaru, Kenji Ishii, Yuko Saito, Shigeo Murayama, Kazutomi Kanemaru, Atsushi Iwata
Background and ObjectivesCSF tau phosphorylated at threonine 181 (p-tau181) is a widely used biomarker for Alzheimer’s disease (AD) and has recently been regarded to reflect amyloid-beta (Aβ) and/or p-tau deposition in the AD brain. Although it is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b3ff0c93fe20e9e1be4cb4af6f30aa4f
https://doi.org/10.1101/2022.06.09.22275750
https://doi.org/10.1101/2022.06.09.22275750
Autor:
Shen-Yang Lim, Henry Houlden, Shota Shibata, Shoji Tsuji, Norlisah Ramli, M. Asem Almansour, Ai Huey Tan, Anthony E. Lang, Hiroyuki Ishiura
Publikováno v:
Parkinsonism & Related Disorders. 74:25-27
Two ethnic Chinese men with clinico-radiologic features of Fragile X-associated tremor-ataxia syndrome (FXTAS) were found on genetic testing to have neuronal intranuclear inclusion disease (NIID), highlighting that NIID should be considered in the di
Autor:
M. Asem Almansour, Takuya Sasaki, Yusuke Sugiyama, Takashi Matsukawa, Jun Mitsui, Yoshio Sakiyama, Ryo Ohtomo, Katsuhisa Ogata, Mizuho Kawai, Wei Qu, Gaku Ohtomo, Shoji Tsuji, Jun Yoshimura, Yasuo Harigaya, Makiko Taira, Ai Huey Tan, Ichizo Nishino, Masaki Tanaka, Yoshihiko Nakazato, Yutaka Kohno, Tatsushi Toda, Satoru Morimoto, Hiroyuki Ishiura, Hisatomo Kowa, Yasushi Shiio, Yuko Saito, Aki Mitsue, Akihiko Mitsutake, Koichiro Doi, Junko Kanda Kikuchi, Hiroyuki Hatsuta, Yuji Takahashi, Shota Shibata, Yuta Suzuki, Shigeo Murayama, Shen-Yang Lim, Yasuo Terao, Atsushi Iwata, Tatsuo Mano, Hidetoshi Date, Yuichiro Shirota, Akitoshi Takeda, Yumi Umeda-Kameyama, Masashi Hamada, Jun Shimizu, Yaeko Ichikawa, Jun Goto, Miho Matsukawa, Jun Shinmi, Shinichi Morishita
Publikováno v:
Nature Genetics. 51:1222-1232
Noncoding repeat expansions cause various neuromuscular diseases, including myotonic dystrophies, fragile X tremor/ataxia syndrome, some spinocerebellar ataxias, amyotrophic lateral sclerosis and benign adult familial myoclonic epilepsies. Inspired b
Autor:
Takahiro Itamiya, Toshihiko Komai, Hiroko Kanda, Yasuo Nagafuchi, Hyangri Chang, Shota Shibata, Hiroyuki Ishiura, Hirofumi Shoda, Tatsushi Toda, Keishi Fujio
Publikováno v:
Clinical Rheumatology. 41:2239-2239