SMN2 gene copy number affects the incidence and prognosis of motor neuron diseases in Japan.
Tomohiko Ishihara; Akihide Koyama; Naoki Atsuta; Mari Tada; Saori Toyoda; Kenta Kashiwagi; Sachiko Hirokawa; Yuya Hatano; Akio Yokoseki; Ryoichi Nakamura; Genki Tohnai; Yuishin Izumi; Ryuji Kaji; Mitsuya Morita; Asako Tamura; Osamu Kano; Masashi Aoki; Satoshi Kuwabara; Akiyoshi Kakita; Gen Sobue; Osamu Onodera
BMC medical genomics, Nov. 2024
17(1), 263-263, 10.1186/s12920-024-02026-y

Exercise attenuates polyglutamine-mediated neuromuscular degeneration in a mouse model of spinal and bulbar muscular atrophy.
Tomoki Hirunagi; Hideaki Nakatsuji; Kentaro Sahashi; Mikiyasu Yamamoto; Madoka Iida; Genki Tohnai; Naohide Kondo; Shinichiro Yamada; Ayuka Murakami; Seiya Noda; Hiroaki Adachi; Gen Sobue; Masahisa Katsuno
Journal of cachexia, sarcopenia and muscle, Nov. 2023
10.1002/jcsm.13344

Genetic factors affecting survival in Japanese patients with sporadic amyotrophic lateral sclerosis: a genome-wide association study and verification in iPSC-derived motor neurons from patients.
Ryoichi Nakamura; Genki Tohnai; Masahiro Nakatochi; Naoki Atsuta; Hirohisa Watanabe; Daisuke Ito; Masahisa Katsuno; Akihiro Hirakawa; Yuishin Izumi; Mitsuya Morita; Takehisa Hirayama; Osamu Kano; Kazuaki Kanai; Nobutaka Hattori; Akira Taniguchi; Naoki Suzuki; Masashi Aoki; Ikuko Iwata; Ichiro Yabe; Kazumoto Shibuya; Satoshi Kuwabara; Masaya Oda; Rina Hashimoto; Ikuko Aiba; Tomohiko Ishihara; Osamu Onodera; Toru Yamashita; Koji Abe; Kouichi Mizoguchi; Toshio Shimizu; Yoshio Ikeda; Takanori Yokota; Kazuko Hasegawa; Fumiaki Tanaka; Kenji Nakashima; Ryuji Kaji; Jun-Ichi Niwa; Manabu Doyu; Chikashi Terao; Shiro Ikegawa; Koki Fujimori; Shiho Nakamura; Fumiko Ozawa; Satoru Morimoto; Kazunari Onodera; Takuji Ito; Yohei Okada; Hideyuki Okano; Gen Sobue
Journal of neurology, neurosurgery, and psychiatry, May 2023
94(10), 816-824, 10.1136/jnnp-2022-330851

The SYNGAP1 3'UTR variant in ALS patients causes aberrant SYNGAP1 splicing and dendritic spine loss by recruiting HNRNPK.
Satoshi Yokoi; Takuji Ito; Kentaro Sahashi; Masahiro Nakatochi; Ryoichi Nakamura; Genki Tohnai; Yusuke Fujioka; Shinsuke Ishigaki; Tsuyoshi Udagawa; Yuishin Izumi; Mitsuya Morita; Osamu Kano; Masaya Oda; Takefumi Sone; Hideyuki Okano; Naoki Atsuta; Masahisa Katsuno; Yohei Okada; Gen Sobue
The Journal of neuroscience : the official journal of the Society for Neuroscience, Oct. 2022
42(47), 8881-8896, 10.1523/JNEUROSCI.0455-22.2022

Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis.
Genki Tohnai; Ryoichi Nakamura; Naoki Atsuta; Masahiro Nakatochi; Naoki Hayashi; Daisuke Ito; Hazuki Watanabe; Hirohisa Watanabe; Masahisa Katsuno; Yuishin Izumi; Akira Taniguchi; Kazuaki Kanai; Mitsuya Morita; Osamu Kano; Satoshi Kuwabara; Masaya Oda; Koji Abe; Masashi Aoki; Ikuko Aiba; Koichi Okamoto; Kouichi Mizoguchi; Tomohiko Ishihara; Akihiro Kawata; Takanori Yokota; Kazuko Hasegawa; Isao Nagano; Ichiro Yabe; Fumiaki Tanaka; Satoshi Kuru; Nobutaka Hattori; Kenji Nakashima; Ryuji Kaji; Gen Sobue
Neurobiology of aging, May 2022
113, 131-136, 10.1016/j.neurobiolaging.2021.12.002

Selective suppression of polyglutamine-expanded protein by lipid nanoparticle-delivered siRNA targeting CAG expansions in the mouse CNS.
Tomoki Hirunagi; Kentaro Sahashi; Kiyoshi Tachikawa; Angel I Leu; Michelle Nguyen; Rajesh Mukthavaram; Priya P Karmali; Padmanabh Chivukula; Genki Tohnai; Madoka Iida; Kazunari Onodera; Manabu Ohyama; Yohei Okada; Hideyuki Okano; Masahisa Katsuno
Molecular therapy. Nucleic acids, Jun. 2021
24, 1-10, 10.1016/j.omtn.2021.02.007

A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis.
Ryoichi Nakamura; Kazuharu Misawa; Genki Tohnai; Masahiro Nakatochi; Sho Furuhashi; Naoki Atsuta; Naoki Hayashi; Daichi Yokoi; Hazuki Watanabe; Hirohisa Watanabe; Masahisa Katsuno; Yuishin Izumi; Kazuaki Kanai; Nobutaka Hattori; Mitsuya Morita; Akira Taniguchi; Osamu Kano; Masaya Oda; Kazumoto Shibuya; Satoshi Kuwabara; Naoki Suzuki; Masashi Aoki; Yasuyuki Ohta; Toru Yamashita; Koji Abe; Rina Hashimoto; Ikuko Aiba; Koichi Okamoto; Kouichi Mizoguchi; Kazuko Hasegawa; Yohei Okada; Tomohiko Ishihara; Osamu Onodera; Kenji Nakashima; Ryuji Kaji; Yoichiro Kamatani; Shiro Ikegawa; Yukihide Momozawa; Michiaki Kubo; Noriko Ishida; Naoko Minegishi; Masao Nagasaki; Gen Sobue
Communications biology, Sep. 2020, Reviewed, No invitation
3(1), 526-526, 10.1038/s42003-020-01251-2

Genetic and functional analysis of KIF5A variants in Japanese patients with sporadic amyotrophic lateral sclerosis.
Ryoichi Nakamura; Genki Tohnai; Naoki Atsuta; Masahiro Nakatochi; Naoki Hayashi; Hazuki Watanabe; Daichi Yokoi; Hirohisa Watanabe; Masahisa Katsuno; Yuishin Izumi; Akira Taniguchi; Kazuaki Kanai; Mitsuya Morita; Osamu Kano; Satoshi Kuwabara; Masaya Oda; Koji Abe; Masashi Aoki; Ikuko Aiba; Koichi Okamoto; Kouichi Mizoguchi; Nobutaka Hattori; Kenji Nakashima; Ryuji Kaji; Gen Sobue
Neurobiology of aging, Jul. 2020, Reviewed, No invitation
97, 147.e11-147.e17, 10.1016/j.neurobiolaging.2020.07.010

Src inhibition attenuates polyglutamine-mediated neuromuscular degeneration in spinal and bulbar muscular atrophy.
Madoka Iida; Kentaro Sahashi; Naohide Kondo; Hideaki Nakatsuji; Genki Tohnai; Yutaka Tsutsumi; Seiya Noda; Ayuka Murakami; Kazunari Onodera; Yohei Okada; Masahiro Nakatochi; Yuka Tsukagoshi Okabe; Shinobu Shimizu; Masaaki Mizuno; Hiroaki Adachi; Hideyuki Okano; Gen Sobue; Masahisa Katsuno
Nature communications, Sep. 2019, Reviewed, No invitation
10(1), 4262-4262, 10.1038/s41467-019-12282-7

DNA methylation inhibitor attenuates polyglutamine-induced neurodegeneration by regulating Hes5.
Kondo N; Tohnai G; Sahashi K; Iida M; Kataoka M; Nakatsuji H; Tsutsumi Y; Hashizume A; Adachi H; Koike H; Shinjo K; Kondo Y; Sobue G; Katsuno M
EMBO molecular medicine, May 2019, Reviewed, No invitation
11(5), 10.15252/emmm.201708547

Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis.
Genki Tohnai; Ryoichi Nakamura; Jun Sone; Masahiro Nakatochi; Daichi Yokoi; Masahisa Katsuno; Hazuki Watanabe; Hirohisa Watanabe; Mizuki Ito; Yuanzhe Li; Yuishin Izumi; Mitsuya Morita; Akira Taniguchi; Osamu Kano; Masaya Oda; Satoshi Kuwabara; Koji Abe; Ikuko Aiba; Koichi Okamoto; Kouichi Mizoguchi; Kazuko Hasegawa; Masashi Aoki; Nobutaka Hattori; Osamu Onodera; Hiroya Naruse; Jun Mitsui; Yuji Takahashi; Jun Goto; Hiroyuki Ishiura; Shinichi Morishita; Jun Yoshimura; Koichiro Doi; Shoji Tsuji; Kenji Nakashima; Ryuji Kaji; Naoki Atsuta; Gen Sobue
Neurobiology of aging, Apr. 2018, Reviewed, No invitation
64, 158.e15-158.e19-158.e19, 10.1016/j.neurobiolaging.2017.12.005

Citrullination of RGG Motifs in FET Proteins by PAD4 Regulates Protein Aggregation and ALS Susceptibility.
Chizu Tanikawa; Koji Ueda; Akari Suzuki; Aritoshi Iida; Ryoichi Nakamura; Naoki Atsuta; Genki Tohnai; Gen Sobue; Naomi Saichi; Yukihide Momozawa; Yoichiro Kamatani; Michiaki Kubo; Kazuhiko Yamamoto; Yusuke Nakamura; Koichi Matsuda
Cell reports, Feb. 2018, Reviewed, No invitation
22(6), 1473-1483, 10.1016/j.celrep.2018.01.031

BIIB021, A SYNTHETIC Hsp90 INHIBITOR, INDUCES MUTANT ATAXIN-1 DEGRADATION THROUGH THE ACTIVATION OF HEAT SHOCK FACTOR 1
Ying Ding; Hiroaki Adachi; Masahisa Katsuno; Kentaro Sahashi; Naohide Kondo; Madoka Iida; Genki Tohnai; Hideaki Nakatsuji; Gen Sobue
NEUROSCIENCE, Jul. 2016, Reviewed, No invitation
327, 20-31, 10.1016/j.neuroscience.2016.03.064

Next-generation sequencing of 28 ALS-related genes in a Japanese ALS cohort
Ryoichi Nakamura; Jun Sone; Naoki Atsuta; Genki Tohnai; Hazuki Watanabe; Daichi Yokoi; Masahiro Nakatochi; Hirohisa Watanabe; Mizuki Ito; Jo Senda; Masahisa Katsuno; Fumiaki Tanaka; Yuanzhe Li; Yuishin Izumi; Mitsuya Morita; Akira Taniguchi; Osamu Kano; Masaya Oda; Satoshi Kuwabara; Koji Abe; Ikuko Aiba; Koichi Okamoto; Kouichi Mizoguchi; Kazuko Hasegawa; Masashi Aoki; Nobutaka Hattori; Shoji Tsuji; Kenji Nakashima; Ryuji Kaji; Gen Sobue
NEUROBIOLOGY OF AGING, Mar. 2016, Reviewed, No invitation
39, 219.e1-8, 10.1016/j.neurobiolaging.2015.11.030

Overexpression of hepatocyte growth factor in SBMA model mice has an additive effect on combination therapy with castration
Ying Ding; Hiroaki Adachi; Masahisa Katsuno; Zhe Huang; Yue-Mei Jiang; Naohide Kondo; Madoka Iida; Genki Tohnai; Hideaki Nakatsuji; Hiroshi Funakoshi; Toshikazu Nakamura; Gen Sobue
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, Dec. 2015, Reviewed, No invitation
468(4), 677-683, 10.1016/j.bbrc.2015.11.015

Silencing neuronal mutant androgen receptor in a mouse model of spinal and bulbar muscular atrophy
Kentaro Sahashi; Masahisa Katsuno; Gene Hung; Hiroaki Adachi; Naohide Kondo; Hideaki Nakatsuji; Genki Tohnai; Madoka Iida; C. Frank Bennett; Gen Sobue
HUMAN MOLECULAR GENETICS, Nov. 2015, Reviewed, No invitation
24(21), 5985-5994, 10.1093/hmg/ddv300

Pioglitazone suppresses neuronal and muscular degeneration caused by polyglutamine-expanded androgen receptors
Madoka Iida; Masahisa Katsuno; Hideaki Nakatsuji; Hiroaki Adachi; Naohide Kondo; Yu Miyazaki; Genki Tohnai; Kensuke Ikenaka; Hirohisa Watanabe; Masahiko Yamamoto; Ken Kishida; Gen Sobue
HUMAN MOLECULAR GENETICS, Jan. 2015, Reviewed, No invitation
24(2), 314-329, 10.1093/hmg/ddu445

Paeoniflorin eliminates a mutant AR via NF-YA-dependent proteolysis in spinal and bulbar muscular atrophy
Genki Tohnai; Hiroaki Adachi; Masahisa Katsuno; Hideki Doi; Shinjiro Matsumoto; Naohide Kondo; Yu Miyazaki; Madoka Iida; Hideaki Nakatsuji; Qiang Qiang; Ying Ding; Hirohisa Watanabe; Masahiko Yamamoto; Kenzo Ohtsuka; Gen Sobue
HUMAN MOLECULAR GENETICS, Jul. 2014, Reviewed, No invitation
23(13), 3552-3565, 10.1093/hmg/ddu066

Genistein, a natural product derived from soybeans, ameliorates polyglutamine-mediated motor neuron disease
Qiang Qiang; Hiroaki Adachi; Zhe Huang; Yue-Mei Jiang; Masahisa Katsuno; Makoto Minamiyama; Hideki Doi; Shinjiro Matsumoto; Naohide Kondo; Yu Miyazaki; Madoka Iida; Genki Tohnai; Gen Sobue
JOURNAL OF NEUROCHEMISTRY, Jul. 2013, Reviewed, No invitation
126(1), 122-130, 10.1111/jnc.12172

p62/SQSTM1 Differentially Removes the Toxic Mutant Androgen Receptor via Autophagy and Inclusion Formation in a Spinal and Bulbar Muscular Atrophy Mouse Model
Hideki Doi; Hiroaki Adachi; Masahisa Katsuno; Makoto Minamiyama; Shinjiro Matsumoto; Naohide Kondo; Yu Miyazaki; Madoka Iida; Genki Tohnai; Qiang Qiang; Fumiaki Tanaka; Toru Yanagawa; Eiji Warabi; Tetsuro Ishii; Gen Sobue
JOURNAL OF NEUROSCIENCE, May 2013, Reviewed, No invitation
33(18), 7710-7727, 10.1523/JNEUROSCI.3021-12.2013

Heat shock factor-1 influences pathological lesion distribution of polyglutamine-induced neurodegeneration
Naohide Kondo; Masahisa Katsuno; Hiroaki Adachi; Makoto Minamiyama; Hideki Doi; Shinjiro Matsumoto; Yu Miyazaki; Madoka Iida; Genki Tohnai; Hideaki Nakatsuji; Shinsuke Ishigaki; Yusuke Fujioka; Hirohisa Watanabe; Fumiaki Tanaka; Akira Nakai; Gen Sobue
NATURE COMMUNICATIONS, Jan. 2013, Reviewed, No invitation
4, 1405, 10.1038/ncomms2417

Viral delivery of miR-196a ameliorates the SBMA phenotype via the silencing of CELF2
Yu Miyazaki; Hiroaki Adachi; Masahisa Katsuno; Makoto Minamiyama; Yue-Mei Jiang; Zhe Huang; Hideki Doi; Shinjiro Matsumoto; Naohide Kondo; Madoka Iida; Genki Tohnai; Fumiaki Tanaka; Shin-ichi Muramatsu; Gen Sobue
NATURE MEDICINE, Jul. 2012, Reviewed, No invitation
18(7), 1136-+, 10.1038/nm.2791

Protective effect of a molecular chaperone inducer, paeoniflorin, on the HCl- and ethanol-triggered gastric mucosal injury
Midori Asai; Daisuke Kawashima; Kiyoe Katagiri; Rika Takeuchi; Genki Tohnai; Kenzo Ohtsuka
LIFE SCIENCES, Feb. 2011, Reviewed, No invitation
88(7-8), 350-357, 10.1016/j.lfs.2010.12.014

【ALS 2019】ALSにおける患者レジストリの役割 JaCALSなど
熱田 直樹; 中村 亮一; 林 直毅; 藤内 玄規; 勝野 雅央; 祖父江 元
BRAIN and NERVE: 神経研究の進歩, Nov. 2019, Not reviewed, No invitation
71(11), 1215-1225

【神経疾患のゲノム医療】 筋萎縮性側索硬化症のゲノム医療
中村 亮一; 藤内 玄規; 熱田 直樹; 勝野 雅央; 祖父江 元
神経内科, Jun. 2017, Not reviewed, No invitation
86(6), 678-685

Therapeutic strategies for spinal and bulbar muscular atrophy
Kondo Naohide; Sahashi Kentaro; Iida Madoka; Tohnai Genki; Sobue Gen; Katsuno Masahisa
Neurological Therapeutics, 2017
34(2), 101-106, 10.15082/jsnt.34.2_101

ゲノム情報を基盤としたALSの治療薬探索と患者iPS細胞由来運動ニューロンを用いた検証
Apr. 2025 - Mar. 2027
藤内 玄規, 藤内 玄規, 一般社団法人日本ALS協会, 一般社団法人日本ALS協会, Principal investigator

ALSにおける老化によるタンパク質品質管理機構の発現変化と病態への影響
基盤研究(C)
愛知医科大学
Apr. 2023 - Mar. 2026
藤内 玄規, 藤内 玄規, 日本学術振興会, 日本学術振興会

患者iPS細胞由来運動ニューロンを用いた筋萎縮性側索硬化症の病態解明と治療薬候補の検証
2023 - 2026
藤内 玄規, 藤内 玄規, Principal investigator

Elucidating the heterogeneity of amyotrophic lateral sclerosis by neuropathological analysis linked to clinical genomic information
Grant-in-Aid for Scientific Research (C)
Aichi Medical University
Apr. 2022 - Mar. 2025
熱田 直樹; 中村 亮一; 道勇 学; 祖父江 元; 藤内 玄規; 陸 雄一, 熱田 直樹; 中村 亮一; 道勇 学; 祖父江 元; 藤内 玄規; 陸 雄一, 日本学術振興会, Japan Society for the Promotion of Science

筋萎縮性側索硬化症のmissing heritabilityに関わる遺伝子の探索
基盤研究(C)
愛知医科大学
Apr. 2022 - Mar. 2025
中村 亮一; 藤内 玄規; 熱田 直樹; 道勇 学; 祖父江 元, 中村 亮一; 藤内 玄規; 熱田 直樹; 道勇 学; 祖父江 元, 日本学術振興会, 日本学術振興会, Coinvestigator

ゲノムワイド関連解析から予測したオートファジーを標的とするALS治療薬候補の検証
Apr. 2023 - Mar. 2024
藤内 玄規, 藤内 玄規, 堀科学芸術振興財団, 堀科学芸術振興財団, Principal investigator

タンパク質品質管理機構を標的としたALSの病態解明と治療法開発
Jan. 2023 - Dec. 2023
藤内 玄規, 藤内 玄規, 一般社団法人せりか基金, 一般社団法人せりか基金, Principal investigator

候補遺伝子アプローチによる筋萎縮性側索硬化症病態関連遺伝子の探索
基盤研究(C)
名古屋大学
Apr. 2019 - Mar. 2022
中村 亮一; 藤内 玄規; 勝野 雅央; 熱田 直樹, 中村 亮一; 藤内 玄規; 勝野 雅央; 熱田 直樹, 日本学術振興会, 日本学術振興会, Coinvestigator

異常タンパク分解系を標的とした運動ニューロン疾患治療薬の開発
基盤研究(C)
名古屋大学
Apr. 2019 - Mar. 2022
藤内 玄規, 藤内 玄規, 日本学術振興会, 日本学術振興会, Principal investigator

Therapeutic development based on factors affecting progression and prognosis of amyotrophic lateral sclerosis
Grant-in-Aid for Scientific Research (C)
Nagoya University
Apr. 2017 - Mar. 2020
熱田 直樹; 中村 亮一; 藤内 玄規; 勝野 雅央; 祖父江 元, Atsuta Naoki, 日本学術振興会, Japan Society for the Promotion of Science, Coinvestigator

Expression and role of autophagy-related molecules in motor neuron disease
Grant-in-Aid for Young Scientists (B)
Nagoya University
01 Apr. 2017 - 31 Mar. 2019
藤内 玄規, Tohnai Genki, 日本学術振興会, Japan Society for the Promotion of Science, Principal investigator

Analysis of genes affecting cognitive function in sporadic ALS
Grant-in-Aid for Young Scientists (B)
Nagoya University
Apr. 2017 - Mar. 2019
中村 亮一; 勝野 雅央; 熱田 直樹; 藤内 玄規, Nakamura Ryoichi; KATSUNO Masahisa; ATSUTA Naoki; TOHNAI Genki, 日本学術振興会, Japan Society for the Promotion of Science, Coinvestigator

Development of a novel therapy for neurodegenerative disease using tacrolimus derivative
Grant-in-Aid for Young Scientists (B)
Nagoya University
01 Apr. 2015 - 31 Mar. 2017
藤内 玄規, TOHNAI Genki, 日本学術振興会, Japan Society for the Promotion of Science, Principal investigator