Asthma-like bronchodilator responsiveness in patients with neuronal intranuclear inclusion disease.Tahara D, Tahara N, Tamai C, Akagi A, Riku Y, Miyahara H, Kobayashi R, Okada H, Kawamoto M, Ishii J, Yamazaki H, Kurashige T, Sugiyama A, Nagaishi A, Nishida K, Sugie K, Fukudome T, Hasegawa K, Ishiura H,
Koike H, Kasai T, Mizuno T, Ando M, Higuchi Y, Tanaka F, Izumi Y, Sobue G, Iwasaki Y, Ito S, Sone J; Japanese Consortium for Neuronal Intranuclear Inclusion Disease Study (JaNIIDS) Group.
Sci Rep.2026 Apr 9.
doi: 10.1038/s41598-026-46319-x. Online ahead of print.
Long-Term Tofersen in SOD1 Amyotrophic Lateral Sclerosis.
Miller TM, Cudkowicz ME, Shaw PJ, Genge A, Sobue G, Bucelli RC, Chiò A, Van Damme P, Ludolph AC, Glass JD, Andrews JA, Babu S, Benatar M, McDermott CJ, Salachas F, Bruneteau G, Al-Chalabi A, Amorin M, Nestorov I, Graham D, Lin L, Sun P, McNeill M, Malek S, Inra J, Garafalo S, Fradette S; VALOR and OLE Working Group.
JAMA Neurol.2026 Feb 1. 83;(2):115-125.
doi:10.1001/jamaneurol.2025.4946
The TDP-43I383V heterozygous mutation results in increased TDP-43 expression and altered neuronal activity in ALS patient-derived iPSC motor neurons.
Chikuchi R, Kato Y, Tomatsu A, Nishisaki S, Kawakami Y, Yoshimura T, Li J, Iguchi Y, Onodera K, Hashimoto R, Aiba I, Nakamura R, Tohnai G, Atsuta N, Sobue G, Okada Y, Katsuno M, Yokoi S.
Neurosci Res. 2026 Jan;222:105003.
doi: 10.1016/j.neures.2025.105003
A genome-wide association study identifies the GPM6A locus associated with age at onset in ALS.
Nakamura R, Tohnai G, Atsuta N, Matsuda Y, Morimoto S, Ito D, Katsuno M, Izumi Y, Morita M, Iwata I, Yabe I, Nakazato T, Hattori N, Hirayama T, Kano O, Tamura A, Suzuki N, Aoki M, Shibuya K, Kuwabara S, Oda M, Hashimoto R, Aiba I, Ishihara T, Onodera O, Yamashita T, Ishiura H, Bokuda K, Shimizu T, Ikeda Y, Hasegawa K, Tanaka F, Yokota T, Kanai K, Noto YI, Kaji R, Watanabe H, Konishi T, Hasegawa M, Fukaya H, Niwa JI, Doyu M, Okada Y, Nakamura S, Ozawa F, Okano H, Nakatochi M, Sobue G; Japanese Consortium for Amyotrophic Lateral Sclerosis research (JaCALS) study group.
Commun Biol.2025 Dec 5. 8(1)
doi: 10.1038/s42003-025-09168-4
Pan-Asian consortium for treatment and research in ALS (PACTALS) guidelines for management of amyotrophic lateral sclerosis.
Vucic S, Shahrizaila N, Kano O, Menon P, Agustini S, Kulkantrakorn K, Atchayaram N, Lee YC, Prado MB Jr, Ng KWP, Chai J, Son B, Talman P, Nghia HTT, Tuan LTQ, Shibuya K, Izumi Y, Atsuta N, Henderson RD, Cui L, Liu M, Ohnmar O, Rabani R, Hong YH, Sung JJ, Fan D, Raykar V, Kuwabara S, Kim SH, Sobue G, Kiernan MC.
Lancet Reg Health West Pac. 2025 Sep 16;62:101684.
doi: 10.1016/j.lanwpc.2025.101684
Safety Extension Study of Edaravone Oral Suspension in Patients With Amyotrophic Lateral Sclerosis for up to an Additional 96 Weeks of Treatment.
Genge A, Pattee GL, Sobue G, Aoki M, Yoshino H, Couratier P, Lunetta C, Petri S, Selness D, Todorovic V, Sasson N, Hirai M, Takahashi F, Salah A, Apple S, Wamil A, Kalin A,
Jackson CE.
Muscle Nerve.2025 Jun 9;72(3):450–454.
doi: 10.1002/mus.28451
Efficacy and Safety of Once Daily Dosing vs. Approved On/Off Dosing of Edaravone Oral Suspension Up to 48 Weeks in Patients With Amyotrophic Lateral Sclerosis (Study MT-1186-A02).
Rothstein J, Genge A, De Silva S, Zinman L, Chum M, Chio A, Sobue G, Aoki M, Yoshino H, Doyu M, Selness D, Todorovic V, Sasson N, Hirai M, Takahashi F, Salah A, Wamil A,
Apple S.
Muscle Nerve.2025 Sep
doi:10.1002/mus.28451
Nation-wide Japanese FTD consortium FTLD-J: Utility of case review meetings.Sato S, Mori K, Masuda M, Suzuki M, Taomoto D, Takasaki A, Shigenobu K, Ouma S, Shinagawa S, Kobayashi R, Watanabe Y, Takeda A, Miyagawa Y, Kawanami A, Tsunoda N, Hara K, Hotta M, Hidaka Y, Yoshiyama K, Kowa H, Katsuno M, Tsujino A, Ikeuchi T, Yabe I, Nakamura M, Tanaka F, Kawakatsu S, Arai T, Yokota O, Izumi Y, Yoshida M, Hashimoto M, Watanabe H, Sobue G, Ikeda M; FTLD-J Study researchers.
Int Psychogeriatr.2025 Apr 30 100078
doi:10.1016/j.inpsyc.2025.100078
Correcting tau isoform ratios with a long-acting antisense oligonucleotide alleviates 4R-tauopathy phenotypes.
Iwata-Endo K, Sahashi K, Kawai K, Fujioka Y, Okada Y, Watanabe E, Iwade N, Ishibashi M, Mohammad M, Aldoghachi AF, Tuerde D, Fujiwara T, Hirai S, Okado H, Katsuno M, Watanabe H, Kanamitsu K, Neya M, Ishigaki S, Sobue G.
Mol Ther Nucleic Acids. 2025 Mar 5;36(2):102503.
doi: 10.1016/j.omtn.2025.102503
Onset of age, site and respiratory symptoms are strongly associated with respiratory decline in sporadic amyotrophic lateral sclerosis: a long-term longitudinal study.
Terao SI, Nosaki Y, Murao A, Torii R, Ogawa N, Miura N, Sasaki Y, Sobue G.
BMJ Neurol Open.2024 Dec 18;6(2):e000829.
doi: 10.1136/bmjno-2024-000829
SMN2 gene copy number affects the incidence and prognosis of motor neuron diseases in Japan.
Ishihara T, Koyama A, Atsuta N, Tada M, Toyoda S, Kashiwagi K, Hirokawa S, Hatano Y, Yokoseki A, Nakamura R, Tohnai G, Izumi Y, Kaji R, Morita M,
Tamura A, Kano O, Aoki M, Kuwabara S, Kakita A, Sobue G, Onodera O.
BMC Med Genomics.2024 Nov 6 ;17:263.
doi: 10.1186/s12920-024-02026-y
Protocol for a phase 2 study of bosutinib for amyotrophic lateral sclerosis using real-world data: induced pluripotent stem cell-based drug repurposing for amyotrophic lateral sclerosis medicine (iDReAM) study.
Imamura K, Izumi Y, Egawa N, Ayaki T, Nagai M, Nishiyama K, Watanabe Y, Murakami T, Hanajima R, Kataoka H, Kiriyama T, Nanaura H, Sugie K, Hirayama T, Kano O, Nakamori M, Maruyama H, Haji S, Fujita K, Atsuta N, Tatebe H, Tokuda T, Takahashi N, Morinaga A, Tabuchi R, Oe M, Kobayashi M, Lobello K,
Morita S, Sobue G, Takahashi R, Inoue H.
BMJ Open.2024 Oct 26 ;14(10):e082142.
doi: 10.1136/bmjopen-2023-082142.
Regional health priorities for dementia: a roadmap for the Western Pacific.
Timmins HC, Mok VCT, Kim SH, Shahrizaila N, Sung JY, Sobue G, Agustini S, Ward S, Anstey KJ, Talbot DL, Mazumder S, Tu S, Tan RH, Shin-Yi Lin C, O'Callaghan C, Michaelian JC, Jeon YH, Foxe D, Naismith SL, Piguet O, Ahmed R, Devenney E, Park SB, Kiernan MC.
Lancet Reg Health West Pac. 2024 Sep 16;50:101179.
doi: 10.1016/j.lanwpc.2024.101179
CHCHD2 P14L, found in amyotrophic lateral sclerosis, exhibits cytoplasmic mislocalization and alters Ca2+ homeostasis.
Ikeda A, Meng H, Taniguchi D, Mio M, Funayama M, Nishioka K, Yoshida M, Li Y, Yoshino H, Inoshita T, Shiba-Fukushima K, Okubo Y, Sakurai T, Amo T, Aiba I, Saito Y, Saito Y, Murayama S, Atsuta N, Nakamura R, Tohnai G, Izumi Y, Morita M, Tamura A, Kano O, Oda M, Kuwabara S, Yamashita T, Sone J, Kaji R,
Sobue G, Imai Y, Hattori N.
PNAS Nexus.2024 Jul 30 ;3(8):pgae319.
doi: 10.1093/pnasnexus/pgae319
Stress-impaired reward pathway promotes distinct feeding behavior patterns.
Fujioka Y, Kawai K, Endo K, Ishibashi M, Iwade N, Tuerde D, Kaibuchi K, Yamashita T, Yamanaka A, Katsuno M, Watanabe H, Sobue G, Ishigaki S.
Front Neurosci.2024 May 9 ;18:1349366.
doi: 10.3389/fnins.2024.1349366
ALSFRS-R decline rate prior to baseline is not useful for stratifying subsequent progression of functional decline.
Hamatani T, Atsuta N, Sano F, Nakamura R, Hayashi Y, Sobue G.
Amyotroph Lateral Scler Frontotemporal Degener. 2024 May;25(3-4):388-399.
doi: 10.1080/21678421.2024.2309989.
Cerebellar and thalamic connector hubs facilitate the involvement of visual and cognitive networks in essential tremor.
Bagarinao E, Maesawa S, Kato S, Mutoh M, Ito Y, Ishizaki T, Tanei T, Tsuboi T, Suzuki M, Watanabe H, Hoshiyama M, Isoda H, Katsuno M, Sobue G, Saito R.
Parkinsonism Relat Disord.2024 Apr:121:106034.
doi: 10.1016/j.parkreldis.2024.106034.
Actin-binding protein filamin-A drives tau aggregation and contributes to progressive supranuclear palsy pathology.
Koyo Tsujikawa , Kohei Hamanaka, Yuichi Riku ,Yuki Hattori, Norikazu Hara , Yohei Iguchi 1, Shinsuke Ishigaki 1 8, Atsushi Hashizume 1 9, Satoko Miyatake 4 10, Satomi Mitsuhashi 4 11, Yu Miyazaki 1, Mayumi Kataoka 1, Li Jiayi 1, Keizo Yasui 2, Satoshi Kuru 3, Haruki Koike 1, Kenta Kobayashi 12, Naruhiko Sahara 13, Norio Ozaki 14, Mari Yoshida 5, Akiyoshi Kakita 15, Yuko Saito 16, Yasushi Iwasaki 5, Akinori Miyashita 7, Takeshi Iwatsubo 17; Japanese Alzheimer’s Disease Neuroimaging Initiative (J-ADNI); Takeshi Ikeuchi 7; Japanese Longitudinal Biomarker Study in PSP and CBD (JALPAC) Consortium; Takaki Miyata 6, Gen Sobue 8, Naomichi Matsumoto 4, Kentaro Sahashi 1, Masahisa Katsuno
Sci Adv. 2022 May 27;8(21):eabm5029.
doi: 10.1126/sciadv.abm5029
Src inhibition attenuates polyglutamine-mediated neuromuscular degeneration in spinal and bulbar muscular atrophy.
Madoka Iida 1 2, Kentaro Sahashi 1, Naohide Kondo 1, Hideaki Nakatsuji 1, Genki Tohnai 1, Yutaka Tsutsumi 1, Seiya Noda 1 3, Ayuka Murakami 1 3, Kazunari Onodera 1 4, Yohei Okada 1 4 5, Masahiro Nakatochi 6, Yuka Tsukagoshi Okabe 7, Shinobu Shimizu 7, Masaaki Mizuno 7,
Hiroaki Adachi 8, Hideyuki Okano 5, Gen Sobue 9, Masahisa Katsuno
Nat Commun. 2019 Sep 19;10(1):4262.
doi: 10.1038/s41467-019-12282-7.
Increased prevalence of granulovacuolar degeneration in C9orf72 mutation.
Yuichi Riku 1 2, Charles Duyckaerts 3 4 5, Susana Boluda 1 6, Isabelle Plu 1 7, Isabelle Le Ber 6 8, Stéphanie Millecamps 6, François Salachas 9;
Brainbank NeuroCEB Neuropathology Network; Mari Yoshida 10, Takashi Ando 2, Masahisa Katsuno 2, Gen Sobue 11, Danielle Seilhean 1.
Acta Neuropathol. 2019 Nov;138(5):783-793.
doi:10.1007/s00401-019-02028-6.
Semantic deficits in ALS related to right lingual/fusiform gyrus network involvement.
Aya Ogura 1, Hirohisa Watanabe 2, Kazuya Kawabata 1, Reiko Ohdake 3, Yasuhiro Tanaka 4, Michihito Masuda 1, Toshiyasu Kato 1, Kazunori Imai 1, Takamasa Yokoi 1, Kazuhiro Hara 1, Epifanio Bagarinao 3, Yuichi Riku 1, Ryoichi Nakamura 1, Yoshinari Kawai 5, Masahiro Nakatochi 6,
Naoki Atsuta 1, Masahisa Katsuno 1, Gen Sobue 7
EBioMedicine. 2019 Sep;47:506-517.
doi: 10.1016/j.ebiom.2019.08.022
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease
Jun Sone 1 2, Satomi Mitsuhashi 3, Atsushi Fujita 3, Takeshi Mizuguchi 3, Kohei Hamanaka 3, Keiko Mori 4, Haruki Koike 1, Akihiro Hashiguchi 5,
Hiroshi Takashima 5, Hiroshi Sugiyama 6, Yutaka Kohno 7, Yoshihisa Takiyama 8, Kengo Maeda 9, Hiroshi Doi 10, Shigeru Koyano 10,
Hideyuki Takeuchi 10, Michi Kawamoto 11, Nobuo Kohara 11, Tetsuo Ando 12, Toshiaki Ieda 13, Yasushi Kita 14, Norito Kokubun 15,
Yoshio Tsuboi 16, Kazutaka Katoh 17 18, Yoshihiro Kino 19, Masahisa Katsuno 1, Yasushi Iwasaki 20, Mari Yoshida 20, Fumiaki Tanaka 10,
Ikuo K Suzuki 21, Martin C Frith 18 22 23, Naomichi Matsumoto 24, Gen Sobue .
Nat Genet. 2019 Aug;51(8):1215-1221.
doi: 10.1038/s41588-019-0459-y.
TDP-43 regulates early-phase insulin secretion via CaV1.2-mediated exocytosis in islets.
Kunihiko Araki 1, Amane Araki 1, Daiyu Honda 1, Takako Izumoto 2, Atsushi Hashizume 1, Yasuhiro Hijikata 1, Shinichiro Yamada 1,
Yohei Iguchi 1, Akitoshi Hara 3, Kazuhiro Ikumi 1, Kaori Kawai 1, Shinsuke Ishigaki 1, Yoko Nakamichi 4, Shin Tsunekawa 2, Yusuke Seino 5,
Akiko Yamamoto 6, Yasunori Takayama 7, Shihomi Hidaka 5, Makoto Tominaga 7, Mica Ohara-Imaizumi 4, Atsushi Suzuki 5, Hiroshi Ishiguro 6,
Atsushi Enomoto 3, Mari Yoshida 8, Hiroshi Arima 2, Shin-Ichi Muramatsu 9 10, Gen Sobue 11, Masahisa Katsuno
J Clin Invest. 2019 Jul 29;129(9):3578-3593.
doi: 10.1172/JCI124481.
DNA methylation inhibitor attenuates polyglutamine-induced neurodegeneration by regulating Hes5.
Naohide Kondo 1, Genki Tohnai 1, Kentaro Sahashi 1, Madoka Iida 1, Mayumi Kataoka 1, Hideaki Nakatsuji 1, Yutaka Tsutsumi 1,
Atsushi Hashizume 1, Hiroaki Adachi 2, Haruki Koike 1, Keiko Shinjo 3, Yutaka Kondo 3, Gen Sobue 4, Masahisa Katsuno 5
EMBO Mol Med. 2019 May;11(5):e8547.
doi: 10.15252/emmm.201708547.
Oral fingolimod for chronic inflammatory demyelinating polyradiculoneuropathy (FORCIDP Trial): a double-blind, multicentre, randomised controlled trial.
Richard Hughes 1, Marinos C Dalakas 2, Ingemar Merkies 3, Norman Latov 4, Jean-Marc Léger 5, Eduardo Nobile-Orazio 6, Gen Sobue 7,
Angela Genge 8, David Cornblath 9, Martin Merschhemke 10, Carolyn Marie Ervin 10, Catherine Agoropoulou 10, Hans-Peter Hartung 11; FORCIDP Trial Investigators.
Lancet Neurol. 2018 Aug;17(8):689-698.
doi: 10.1016/S1474-4422(18)30202-3.
Citrullination of RGG Motifs in FET Proteins by PAD4 Regulates Protein Aggregation and ALS Susceptibility.
Chizu Tanikawa 1, Koji Ueda 2, Akari Suzuki 3, Aritoshi Iida 3, Ryoichi Nakamura 4, Naoki Atsuta 4, Genki Tohnai 4, Gen Sobue 4, Naomi Saichi 2, Yukihide Momozawa 3, Yoichiro Kamatani 3, Michiaki Kubo 3, Kazuhiko Yamamoto 5, Yusuke Nakamura 6, Koichi Matsuda.
Cell Rep. 2018 Feb 6;22(6):1473-1483.
doi: 10.1016/j.celrep.2018.01.031.
Subcutaneous immunoglobulin for maintenance treatment in chronic inflammatory demyelinating polyneuropathy (PATH): a randomised, double-blind, placebo-controlled, phase 3 trial.
Ivo N van Schaik 1, Vera Bril 2, Nan van Geloven 3, Hans-Peter Hartung 4, Richard A Lewis 5, Gen Sobue 6, John-Philip Lawo 7, Michaela Praus 7, Orell Mielke 7, Billie L Durn 8, David R Cornblath 9, Ingemar S J Merkies 10; PATH study group.
Lancet Neurol. 2018 Jan;17(1):35-46.
doi: 10.1016/S1474-4422(17)30378-2.
3'UTR Length-Dependent Control of SynGAP Isoform α2 mRNA by FUS and ELAV-like Proteins Promotes Dendritic Spine Maturation and Cognitive Function
Yokoi S, Udagawa T, Fujioka Y, Honda D, Okado H, Watanabe H, Katsuno M, Ishigaki S, Sobue G.
Cell Rep. 2017/9/28
Safety and efficacy of edaravone in well defined patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled trial.
Writing Group; Edaravone (MCI-186) ALS 19 Study Group.
Lancet Neurol. 2017 Jul;16(7):505-512.
doi: 10.1016/S1474-4422(17)30115-1.
Clinicopathological features of adult-onset neuronal intranuclear inclusion disease.
Jun Sone 1 2, Keiko Mori 1 3, Tomonori Inagaki 1, Ryu Katsumata 1, Shinnosuke Takagi 1, Satoshi Yokoi 1, Kunihiko Araki 1, Toshiyasu Kato 1,
Tomohiko Nakamura 1, Haruki Koike 1, Hiroshi Takashima 4, Akihiro Hashiguchi 4, Yutaka Kohno 5, Takashi Kurashige 6, Masaru Kuriyama 7, Yoshihisa Takiyama 8, Mai Tsuchiya 8, Naoyuki Kitagawa 9, Michi Kawamoto 10, Hajime Yoshimura 10, Yutaka Suto 11,
Hiroyuki Nakayasu 11, Naoko Uehara 12, Hiroshi Sugiyama 12, Makoto Takahashi 13, Norito Kokubun 14, Takuya Konno 15,
Masahisa Katsuno 1, Fumiaki Tanaka 16, Yasushi Iwasaki 17, Mari Yoshida 17, Gen Sobue 18
Brain. 2016 Dec;139(Pt 12):3170-3186.
doi: 10.1093/brain/aww249.
Exosome secretion is a key pathway for clearance of pathological TDP-43.
Yohei Iguchi 1 2, Lara Eid 1 2, Martin Parent 1 2, Geneviève Soucy 1 2, Christine Bareil 1 2, Yuichi Riku 3, Kaori Kawai 3, Shinnosuke Takagi 3,
Mari Yoshida 4, Masahisa Katsuno 3, Gen Sobue 3, Jean-Pierre Julien 5
Brain. 2016 Dec;139(Pt 12):3187-3201.
doi: 10.1093/brain/aww237.
Safety and efficacy of thalidomide in patients with POEMS syndrome: a multicentre, randomised, double-blind, placebo-controlled trial.
Sonoko Misawa 1, Yasunori Sato 2, Kanako Katayama 2, Kengo Nagashima 2, Reiko Aoyagi 2, Yukari Sekiguchi 1, Gen Sobue 3, Haruki Koike 3,
Ichiro Yabe 4, Hidenao Sasaki 4, Osamu Watanabe 5, Hiroshi Takashima 5, Masatoyo Nishizawa 6, Izumi Kawachi 6, Susumu Kusunoki 7,
Yoshiyuki Mitsui 7, Seiji Kikuchi 8, Ichiro Nakashima 9, Shu-Ichi Ikeda 10, Nobuo Kohara 11, Takashi Kanda 12, Jun-Ichi Kira 13, Hideki Hanaoka 2,
Satoshi Kuwabara 14; Japanese POEMS Syndrome for Thalidomide (J-POST) Trial Study Group
Lancet Neurol. 2016 Oct;15(11):1129-37.
doi: 10.1016/S1474-4422(16)30157-0.
FUS regulates AMPA receptor function and FTLD/ALS-associated behaviour via GluA1 mRNA stabilization.
Tsuyoshi Udagawa 1, Yusuke Fujioka 2, Motoki Tanaka 3, Daiyu Honda 2, Satoshi Yokoi 2, Yuichi Riku 2, Daisuke Ibi 3, Taku Nagai 4,
Kiyofumi Yamada 4, Hirohisa Watanabe 2, Masahisa Katsuno 2, Toshifumi Inada 5, Kinji Ohno 6, Masahiro Sokabe 3, Haruo Okado 7,
Shinsuke Ishigaki 2, Gen Sobue 2
Nat Commun. 2015 May 13;6:7098.
doi: 10.1038/ncomms8098.
Astrocyte-derived TGF-β1 accelerates disease progression in ALS mice by interfering with the neuroprotective functions of microglia and T cells.
Fumito Endo 1, Okiru Komine 2, Noriko Fujimori-Tonou 3, Masahisa Katsuno 4, Shijie Jin 2, Seiji Watanabe 2, Gen Sobue 5, Mari Dezawa 6, Tony Wyss-Coray 7, Koji Yamanaka.
Cell Rep. 2015 Apr 28;11(4):592-604.
doi: 10.1016/j.celrep.2015.03.053.
IgG4-related neuropathy: a case report.
Ken Ohyama 1, Haruki Koike, Masahiro Iijima, Rina Hashimoto, Minoru Tomita, Yuichi Kawagashira, Akira Satou, Shigeo Nakamura, Gen Sobue.
JAMA Neurol. 2013 Apr;70(4):502-5.
doi: 10.1001/jamaneurol.2013.658
Spliceosome integrity is defective in the motor neuron diseases ALS and SMA.
Hitomi Tsuiji 1, Yohei Iguchi, Asako Furuya, Ayane Kataoka, Hiroyuki Hatsuta, Naoki Atsuta, Fumiaki Tanaka, Yoshio Hashizume,
Hiroyasu Akatsu, Shigeo Murayama, Gen Sobue, Koji Yamanaka.
EMBO Mol Med. 2013 Feb;5(2):221-34.
doi: 10.1002/emmm.201202303.
A functional deficiency of TERA/VCP/p97 contributes to impaired DNA repair in multiple polyglutamine diseases.
Kyota Fujita # 1, Yoko Nakamura # 1, Tsutomu Oka # 1, Hikaru Ito 1, Takuya Tamura 1, Kazuhiko Tagawa 1, Toshikazu Sasabe 1,
Asuka Katsuta 1 2, Kazumi Motoki 1, Hiroki Shiwaku 1, Masaki Sone 1 2, Chisato Yoshida 1, Masahisa Katsuno 3, Yoshinobu Eishi 4, Miho Murata 5,
J Paul Taylor 6, Erich E Wanker 7, Kazuteru Kono 8, Satoshi Tashiro 8, Gen Sobue 3, Albert R La Spada 9, Hitoshi Okazawa 1
Nat Commun. 2013;4:1816.
doi: 10.1038/ncomms2828.
Heat shock factor-1 influences pathological lesion distribution of polyglutamine-induced neurodegeneration.
Naohide Kondo 1, 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.
Nat Commun. 2013;4:1405.
doi: 10.1038/ncomms2417.
Naratriptan mitigates CGRP1-associated motor neuron degeneration caused by an expanded polyglutamine repeat tract.
Makoto Minamiyama 1, Masahisa Katsuno, Hiroaki Adachi, Hideki Doi, Naohide Kondo, Madoka Iida, Shinsuke Ishigaki, Yusuke Fujioka,
Shinjiro Matsumoto, Yu Miyazaki, Fumiaki Tanaka, Hiroki Kurihara, Gen Sobue.
Nat Med. 2012 Oct;18(10):1531-8.
doi: 10.1038/nm.2932.
Longitudinal changes of outcome measures in spinal and bulbar muscular atrophy.
Atsushi Hashizume 1, Masahisa Katsuno, Haruhiko Banno, Keisuke Suzuki, Noriaki Suga, Tomoo Mano, Naoki Atsuta, Hiroaki Oe,
Hirohisa Watanabe, Fumiaki Tanaka, Gen Sobue.
Brain. 2012 Sep;135(Pt 9):2838-48.
doi: 10.1093/brain/aws170.
Viral delivery of miR-196a ameliorates the SBMA phenotype via the silencing of CELF2.
Yu Miyazaki 1, 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.
Nat Med. 2012 Jul;18(7):1136-41.
doi: 10.1038/nm.2791.
Efficacy and safety of leuprorelin in patients with spinal and bulbar muscular atrophy (JASMITT study): a multicentre, randomised, double-blind, placebo-controlled trial.Masahisa Katsuno 1, Haruhiko Banno, Keisuke Suzuki, Yu Takeuchi, Motoshi Kawashima, Ichiro Yabe, Hidenao Sasaki, Masashi Aoki, Mitsuya Morita, Imaharu Nakano, Kazuaki Kanai, Shoichi Ito, Kinya Ishikawa, Hidehiro Mizusawa, Tomotaka Yamamoto, Shoji Tsuji, Kazuko Hasegawa, Takayoshi Shimohata, Masatoyo Nishizawa, Hiroaki Miyajima, Fumio Kanda, Yasuhiro Watanabe, Kenji Nakashima, Akira Tsujino, Taro Yamashita, Makoto Uchino, Yasushi Fujimoto, Fumiaki Tanaka, Gen Sobue; Japan SBMA Interventional Trial for TAP-144-SR (JASMITT) study group.
Lancet Neurol. 2010 Sep;9(9):875-84.
doi: 10.1016/S1474-4422(10)70182-4.
Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy.
Isabella Palazzolo 1, Conor Stack, Lingling Kong, Antonio Musaro, Hiroaki Adachi, Masahisa Katsuno, Gen Sobue, J Paul Taylor,
Charlotte J Sumner, Kenneth H Fischbeck, Maria Pennuto.
Neuron. 2009 Aug 13;63(3):316-28.
doi: 10.1016/j.neuron.2009.07.019.
Phase 2 trial of leuprorelin in patients with spinal and bulbar muscular atrophy.
Haruhiko Banno 1, Masahisa Katsuno, Keisuke Suzuki, Yu Takeuchi, Motoshi Kawashima, Noriaki Suga, Motoko Takamori, Mizuki Ito,
Tomohiko Nakamura, Koji Matsuo, Shinichi Yamada, Yumiko Oki, Hiroaki Adachi, Makoto Minamiyama, Masahiro Waza, Naoki Atsuta,
Hirohisa Watanabe, Yasushi Fujimoto, Tsutomu Nakashima, Fumiaki Tanaka, Manabu Doyu, Gen Sobue.
Ann Neurol. 2009 Feb;65(2):140-50.
doi: 10.1002/ana.21540.
CAG repeat size correlates to electrophysiological motor and sensory phenotypes in SBMA.
Keisuke Suzuki 1, Masahisa Katsuno, Haruhiko Banno, Yu Takeuchi, Naoki Atsuta, Mizuki Ito, Hirohisa Watanabe, Fumitada Yamashita,
Norio Hori, Tomohiko Nakamura, Masaaki Hirayama, Fumiaki Tanaka, Gen Sobue.
Brain. 2008 Jan;131(Pt 1):229-39.
doi: 10.1093/brain/awm289.
ASC-J9 ameliorates spinal and bulbar muscular atrophy phenotype via degradation of androgen receptor.
Zhiming Yang 1, Yu-Jia Chang, I-Chen Yu, Shuyuan Yeh, Cheng-Chia Wu, Hiroshi Miyamoto, Diane E Merry, Gen Sobue, Lu-Min Chen,
Shu-Shi Chang, Chawnshang Chang.Nat Med. 2007 Mar;13(3):348-53.
doi: 10.1038/nm1547.
In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.
Kentaro Sahashi 1, Akio Masuda, Tohru Matsuura, Jun Shinmi, Zhujun Zhang, Yasuhiro Takeshima, Masafumi Matsuo, Gen Sobue, Kinji Ohno.
Nucleic Acids Res. 2007;35(18):5995-6003.
doi: 10.1093/nar/gkm647.
Clinicopathologic characteristics of sporadic Japanese Creutzfeldt-Jakob disease classified according to prion protein gene polymorphism and prion protein type.
Yasushi Iwasaki 1, Mari Yoshida, Yoshio Hashizume, Tetsuyuki Kitamoto, Gen Sobue.
Acta Neuropathol. 2006 Nov;112(5):561-71.
doi: 10.1007/s00401-006-0111-7.
Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients.
Naoki Atsuta 1, Hirohisa Watanabe, Mizuki Ito, Haruhiko Banno, Keisuke Suzuki, Masahisa Katsuno, Fumiaki Tanaka, Akiko Tamakoshi, Gen Sobue.
Brain. 2006 Jun;129(Pt 6):1446-55.
doi: 10.1093/brain/awl096.
Mutant androgen receptor accumulation in spinal and bulbar muscular atrophy scrotal skin: a pathogenic marker.
Haruhiko Banno 1, Hiroaki Adachi, Masahisa Katsuno, Keisuke Suzuki, Naoki Atsuta, Hirohisa Watanabe, Fumiaki Tanaka, Manabu Doyu,
Gen Sobue.
Ann Neurol. 2006 Mar;59(3):520-6.
doi: 10.1002/ana.20735.
Pharmacological induction of heat-shock proteins alleviates polyglutamine-mediated motor neuron disease.
Masahisa Katsuno 1, Chen Sang, Hiroaki Adachi, Makoto Minamiyama, Masahiro Waza, Fumiaki Tanaka, Manabu Doyu, Gen Sobue.
Proc Natl Acad Sci U S A. 2005 Nov 15;102(46):16801-6.
doi: 10.1073/pnas.0506249102.
The wide spectrum of clinical manifestations in Sjögren's syndrome-associated neuropathy.
Keiko Mori 1, Masahiro Iijima, Haruki Koike, Naoki Hattori, Fumiaki Tanaka, Hirohisa Watanabe, Masahisa Katsuno, Asako Fujita, Ikuko Aiba,
Akihiko Ogata, Toyokazu Saito, Kunihiko Asakura, Mari Yoshida, Masaaki Hirayama, Gen Sobue.
Brain. 2005 Nov;128(Pt 11):2518-34.
doi: 10.1093/brain/awh605.
17-AAG, an Hsp90 inhibitor, ameliorates polyglutamine-mediated motor neuron degeneration.
Masahiro Waza 1, Hiroaki Adachi, Masahisa Katsuno, Makoto Minamiyama, Chen Sang, Fumiaki Tanaka, Akira Inukai, Manabu Doyu, Gen Sobue.
Nat Med. 2005 Oct;11(10):1088-95.
doi: 10.1038/nm1298.
Tuft-shaped astrocytes in Lewy body disease.
Nozomi Hishikawa 1, Yoshio Hashizume, Mari Yoshida, Jun-Ichi Niwa, Fumiaki Tanaka, Gen Sobue.
Acta Neuropathol. 2005 Apr;109(4):373-80.
doi: 10.1007/s00401-004-0967-3.
Widespread nuclear and cytoplasmic accumulation of mutant androgen receptor in SBMA patients.
Hiroaki Adachi 1, Masahisa Katsuno, Makoto Minamiyama, Masahiro Waza, Chen Sang, Yuji Nakagomi, Yasushi Kobayashi, Fumiaki Tanaka,
Manabu Doyu, Akira Inukai, Mari Yoshida, Yoshio Hashizume, Gen Sobue.
Brain. 2005 Mar;128(Pt 3):659-70.
doi: 10.1093/brain/awh381.
Gene expression profile of spinal motor neurons in sporadic amyotrophic lateral sclerosis.
Yue-Mei Jiang 1, Masahiko Yamamoto, Yasushi Kobayashi, Tsuyoshi Yoshihara, Yideng Liang, Shinichi Terao, Hideyuki Takeuchi, Shinsuke Ishigaki, Masahisa Katsuno, Hiroaki Adachi, Jun-ichi Niwa, Fumiaki Tanaka, Manabu Doyu, Mari Yoshida, Yoshio Hashizume, Gen Sobue.
Ann Neurol. 2005 Feb;57(2):236-51.
doi: 10.1002/ana.20379.
Alcoholic neuropathy is clinicopathologically distinct from thiamine-deficiency neuropathy.
Haruki Koike 1, Masahiro Iijima, Makoto Sugiura, Keiko Mori, Naoki Hattori, Hiroki Ito, Masaaki Hirayama, Gen Sobue.
Ann Neurol. 2003 Jul;54(1):19-29.
doi: 10.1002/ana.10550.
Leuprorelin rescues polyglutamine-dependent phenotypes in a transgenic mouse model of spinal and bulbar muscular atrophy.
Katsuno M, Adachi H, Doyu M, Minamiyama M, Sang C, Kobayashi Y, Inukai A, Sobue G.
Nat Med. 2003 Jun;9(6):768-73.
doi: 10.1038/nm878.
Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.
Hattori N, Yamamoto M, Yoshihara T, Koike H, Nakagawa M, Yoshikawa H, Ohnishi A, Hayasaka K, Onodera O, Baba M, Yasuda H, Saito T, Nakashima K, Kira J, Kaji R, Oka N, Sobue G; Study Group for Hereditary Neuropathy in Japan.
Brain. 2003 Jan;126(Pt 1):134-51.
doi: 10.1093/brain/awg012.
Testosterone reduction prevents phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy.
Katsuno M, Adachi H, Kume A, Li M, Nakagomi Y, Niwa H, Sang C, Kobayashi Y, Doyu M, Sobue G.
Neuron. 2002 Aug 29;35(5):843-54.
doi: 10.1016/s0896-6273(02)00834-6.
Progression and prognosis in multiple system atrophy: an analysis of 230 Japanese patients.
Watanabe H, Saito Y, Terao S, Ando T, Kachi T, Mukai E, Aiba I, Abe Y, Tamakoshi A, Doyu M, Hirayama M, Sobue G.
Brain. 2002 May;125(Pt 5):1070-83.
doi: 10.1093/brain/awf117.