Elucidation of pathomecanism for Fukuyama muscular dystrophy and dystroglycanopathy and their drug developmen

• Project/Area Number: 26253057
• Research Category: Grant-in-Aid for Scientific Research (A)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Neurology
• Research Institution: Kobe University
• Principal Investigator: Toda Tatsusi 神戸大学, 医学研究科, 教授 (30262025)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Project Status: Completed (Fiscal Year 2017)
• Budget Amount: ¥41,470,000 (Direct Cost: ¥31,900,000、Indirect Cost: ¥9,570,000); Fiscal Year 2016: ¥11,960,000 (Direct Cost: ¥9,200,000、Indirect Cost: ¥2,760,000); Fiscal Year 2015: ¥13,520,000 (Direct Cost: ¥10,400,000、Indirect Cost: ¥3,120,000); Fiscal Year 2014: ¥15,990,000 (Direct Cost: ¥12,300,000、Indirect Cost: ¥3,690,000)
• Keywords: 福山型筋ジストロフィー / ジストログリパノカチー / リビトールリン酸 / フクチン / アンチセンス治療 / ジストログリカノパチー / 臨床神経分子遺伝学 / レトロトランスポゾン / LARGE

Outline of Final Research Achievements

We re-designed AONs precisely around the splice sites and assessed the efficacy for exon trap inhibition of these AONs in Fukuyama CMD patient cells and model mice. We finally selected one best candidate AON. We demonstrated that fukutin is required for LARGE-dependent rescue of α-DG glycosylation. We further identified the previously unknown glycan unit ribitol 5-phosphate (Rbo5P), a phosphoric ester of pentose alcohol, as a tandem repeat that functions as a scaffold for the formation of the ligand-binding moiety of α-DG. We determined the enzyme activities of three major α-DGpathy-causing proteins to be involved in the synthesis of tandem Rbo5P. Isoprenoid synthase domain-containing (ISPD) is cytidine diphosphate ribitol (CDP-Rbo) synthase. Fukutin and fukutin-related protein are Rbo5P transferases that use CDP-Rbo. We also indicate that spatiotemporal persistence of functionally glycosylated dystroglycan may be crucial for brain development.

Research Products

• [Journal Article] Cell endogenous activities of fukutin and FKRP coexist with the ribitol xylosyltransferase, TMEM5. (2018)
  • Author(s): Nishihara, R., Kobayashi, K., Imae, R., Tsumoto, H., Manya, H., Mizuno, M., Kanagawa, M., Endo, T., and Toda, T.
  • Journal Title: Biochemical and Biophysical Research Communications Volume: 497 Issue: 4 Pages: 1025-1030
  • DOI: 10.1016/j.bbrc.2018.02.162
  • Peer Reviewed / Open Access
• [Journal Article] The Ror1 receptor tyrosine kinase plays a critical role in regulating satellite cell proliferation during regeneration of injured muscle (2017)
  • Author(s): Kamizaki Koki、Doi Ryosuke、Hayashi Makoto、Saji Takeshi、Kanagawa Motoi、Toda Tatsushi、Fukada So-ichiro、Ho Hsin-Yi Henry、Greenberg Michael Eldon、Endo Mitsuharu、Minami Yasuhiro
  • Journal Title: Journal of Biological Chemistry Volume: 292 Issue: 38 Pages: 15939-15951
  • DOI: 10.1074/jbc.m117.785709
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Cardiac involvement in Fukuyama muscular dystrophy is less severe than in Duchenne muscular dystrophy. (2017)
  • Author(s): Yamamoto T, Taniguchi-Ikeda M, Awano H, Matsumoto M, Lee T, Harada R, Imanishi T, Hayashi N, Sakai Y, Morioka I, Takeshima Y, Iijima K, Saegusa J, Toda T.
  • Journal Title: Brain and Development Volume: 39 Issue: 10 Pages: 861-868
  • DOI: 10.1016/j.braindev.2017.05.008
  • Peer Reviewed / Open Access
• [Journal Article] Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan (2017)
  • Author(s): Kobayashi Kazuhiro、Kato Reiko、Kondo-Iida Eri、Taniguchi-Ikeda Mariko、Osawa Makiko、Saito Kayoko、Toda Tatsushi
  • Journal Title: Journal of Human Genetics Volume: 62 Issue: 11 Pages: 945-948
  • DOI: 10.1038/jhg.2017.71
  • Peer Reviewed / Open Access
• [Journal Article] Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy (2017)
  • Author(s): Yoshioka Mieko、Kobayashi Kazuhiro、Toda Tatsushi
  • Journal Title: Brain and Development Volume: 39 Issue: 10 Pages: 869-872
  • DOI: 10.1016/j.braindev.2017.05.013
  • Peer Reviewed / Open Access
• [Journal Article] Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy (2017)
  • Author(s): Kanagawa Motoi、Toda Tatsushi
  • Journal Title: Journal of Neuromuscular Diseases Volume: 4 Issue: 4 Pages: 259-267
  • DOI: 10.3233/jnd-170255
  • NAID: 120006811130
  • Peer Reviewed / Open Access
• [Journal Article] Analysis of phenotype, enzyme activity, and genotype of Chinese patients with POMT1 mutation (2016)
  • Author(s): Haipo Yang, Hiroshi Manya, Kazuhiro Kobayashi, HUI JIAO, Xiaona Fu, Jiangxi Xiao, Xiaoqing Li, Jingmin wang, Yuwu Jiang, TATSUSHI TODA, Tamao Endo, Xiru Wu,Hui Xiong,
  • Journal Title: J. Hum. Genet Volume: 印刷中 Issue: 8 Pages: 753-759
  • DOI: 10.1038/jhg.2016.42
  • NAID: 40020923851
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of α-dystroglycan. (2016)
  • Author(s): Kuwabara N, Manya H, Yamada T, Tateno H, Kanagawa M, Kobayashi K, Akasaka-Manya K, Hirose Y, Mizuno M, Ikeguchi M, Toda T, Hirabayashi J, Senda T, Endo T, Kato R.
  • Journal Title: Proc Natl Acad Sci U S A. Volume: 113 Issue: 33 Pages: 9280-9285
  • DOI: 10.1073/pnas.1525545113
  • Peer Reviewed / Open Access
• [Journal Article] Mechanistic aspects of the formation of α-dystroglycan and therapeutic research for the treatment of α-dystroglycanopathy: A review. (2016)
  • Author(s): Taniguchi-Ikeda M, Morioka I, Iijima K, Toda T.
  • Journal Title: Mol Aspects Med. Volume: 51 Pages: 115-124
  • DOI: 10.1016/j.mam.2016.07.003
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] The muscular dystrophy gene TMEM5encodes a ribitol β1-4 Xylosyltransferase required for the functional glycosylation of dystroglycan. (2016)
  • Author(s): Manya, H., Yamaguchi, Y., Kanagawa, M., Kobayashi, K., Tajiri, M., Akasaka-Manya, K., Kawakami, H., Mizuno, M., Wada, Y., Toda, T., and Endo, T.
  • Journal Title: J. Biol. Chem Volume: 291 Issue: 47 Pages: 24618-24627
  • DOI: 10.1074/jbc.m116.751917
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother. (2016)
  • Author(s): Taniguchi-Ikeda M, Takeshima Y, Lee T, Nishiyama M, Awano H, Yagi M, Unzaki A, Nozu K, Nishio H, Matsuo M, Kurahashi H, Toda T, Morioka I, Iijima K.
  • Journal Title: J Hum Genet. Volume: 61 Issue: 4 Pages: 351-355
  • DOI: 10.1038/jhg.2015.157
  • NAID: 40020802923
  • Peer Reviewed / Open Access
• [Journal Article] Identification of a post-translational modification with ribitol-phosphate and its defect in muscular dystrophy (2016)
  • Author(s): Kanagawa M, Kobayashi K, Tajiri M, Manya H, Kuga A, Yamaguchi Y, Akasaka-Manya K, Furukawa J, Mizuno M, Kawakami H, Shinohara Y, Wada Y, Endo T, Toda T.
  • Journal Title: Cell Reports Volume: 14 Issue: 9 Pages: 2209-2223
  • DOI: 10.1016/j.celrep.2016.02.017
  • NAID: 120005728438
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy (2015)
  • Author(s): Oda T, Xiong H, Kobayashi K, Wang S, Satake W, Jiao H, Yang Y, Cha PC, Hayashi Y, Nishino I, Suzuki Y, Sugano S, Wu X, Toda T.
  • Journal Title: Human Genome Variation Volume: 2 Issue: 1 Pages: 15022-15022
  • DOI: 10.1038/hgv.2015.22
  • Peer Reviewed / Open Access
• [Journal Article] A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency. (2015)
  • Author(s): Nakagawa T, Taniguchi-Ikeda M, Murakami Y, Nakamura S, Motooka D, Emoto T, Satake W, Nishiyama M, Toyoshima D, Morisada N, Takada S, Tairaku S, Okamoto N, Morioka I, Kurahashi H, Toda T, Kinoshita T, Iijima K.
  • Journal Title: American Journal of Medical Genetics PartA Volume: 170 Issue: 1 Pages: 183-188
  • DOI: 10.1002/ajmg.a.37397
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] ABCG2 variant has opposing effects on onset ages of Parkinson's disease and gout. (2015)
  • Author(s): Matsuo H, Tomiyama H, Satake W, Chiba T, Onoue H, Kawamura Y, Nakayama A, ShimizuS, Sakiyama M, Funayama M, Nishioka K, Shimizu T, Kaida K, Kamakura K, Toda T, Hattori N, ShinomiyaN.
  • Journal Title: Ann Clin Transl Neurol Volume: 2 Issue: 3 Pages: 302-306
  • DOI: 10.1002/acn3.167
  • Peer Reviewed / Open Access
• [Journal Article] Fukutin is prerequisite to ameliorate muscular dystrophic phenotype by myofiber-selective LARGE expression. (2015)
  • Author(s): Ohtsuka Y, Kanagawa M, Yu CC, Ito C, Chiyo T, Kobayashi K, Okada T, Takeda S’I, Toda T.
  • Journal Title: Sci Rep Volume: 5 Issue: 1 Pages: 8316-8316
  • DOI: 10.1038/srep08316
  • NAID: 120005600773
  • Peer Reviewed / Open Access
• [Journal Article] CHCHD2 mutations in autosomal dominant late-onset Parkinson’s disease: a genome-wide linkage and sequencing study. (2015)
  • Author(s): Funayama M, Ohe K, Amo T, Furuya N, Yamaguchi J, Saiki S, Yuanzhe L, Ogaki K, Ando M, Yoshinon H, Tomiyama H, Nishioka K, Hasegawa K, Saiki H, Satake W, Mogushi K, Sasaki R, Kokubo Y, Kuzuhara S, Toda T, Mizuno Y, Uchiyama Y, Ohno K, Hattori N.
  • Journal Title: Lancet Neurol Volume: 14 Issue: 3 Pages: 274-282
  • DOI: 10.1016/s1474-4422(14)70266-2
  • Peer Reviewed / Open Access
• [Journal Article] TRPV2 is critical for the maintenance of cardiac structure and function in mice. (2014)
  • Author(s): Katanosaka Y, Iwasaki K, Ujihara Y, Takatsu S, Nishitsuji K, Kanagawa M, Sudo A, Toda T, Katanosaka K, Mohri S, Naruse K.
  • Journal Title: Nat Comm Volume: 5 Issue: 1 Pages: 3932-3932
  • DOI: 10.1038/ncomms4932
  • NAID: 120005690060
  • Peer Reviewed / Open Access
• [Journal Article] Peripheral leukocyte anomaly detected with routine automated hematology analyzer sensitive to adipose triglyceride lipase deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy. (2014)
  • Author(s): Suzuki A, Nagasaka H, Ochi Y, Kobayashi K, Nakamura H, Nakatani D, S Yamaguchi, Yamaki S, Wada A, Shirata Y, Hui SP, Toda T, Kuroda H, Chiba H, Hirano K.
  • Journal Title: Mol Genet Metab Rep Volume: 1 Pages: 249-253
  • DOI: 10.1016/j.ymgmr.2014.05.001
  • Peer Reviewed / Open Access
• [Journal Article] Disease-associated marked hyperalphalipoproteinemia. (2014)
  • Author(s): Hirano K, Nagasaka H, Kobayashi K, Yamaguchi S, Suzuki A, Toda T, Doyu M.
  • Journal Title: Mol Genet Metab Rep Volume: 1 Pages: 264-268
  • DOI: 10.1016/j.ymgmr.2014.06.001
  • Peer Reviewed / Open Access
• [Journal Article] The role of Pak-interacting exchange factor-β phosphorylation at serines 340 and 583 by PKCγ in dopamine release. (2014)
  • Author(s): Shirafuji T, Ueyama T, Yoshino K, Takahashi H, Adachi N, Ago Y, Koda K, Nashida T, Hiramatsu N, Matsuda T, Toda T, Sakai N, Saito N.
  • Journal Title: J Neurosci Volume: 34 Issue: 28 Pages: 9268-9280
  • DOI: 10.1523/jneurosci.4278-13.2014
  • NAID: 120005619641
  • Peer Reviewed / Open Access
• [Journal Article] Association of the ASCO classification with the executive function subscores of the Montreal Cognitive Assessment in patients with post-ischemic stroke. (2014)
  • Author(s): Washida K, IharaM, Tachibana H, Sekiguchi K, Kowa H, Kanda F, Toda T.
  • Journal Title: J Stroke Cerebrovasc Dis Volume: 23 Issue: 9 Pages: 2250-2255
  • DOI: 10.1016/j.jstrokecerebrovasdis.2014.04.009
  • Peer Reviewed / Open Access
• [Journal Article] Overexpression of LARGE suppresses muscle regeneration via down-regulation of insulin-like growth factor 1 and aggravates muscular dystrophy in mice. (2014)
  • Author(s): Saito F, Kanagawa M, Ikeda M, Hagiwara H, Masaki T, Ohkuma H, Katanosaka Y, Shimizu T, Sonoo M, Toda T, Matsumura K.
  • Journal Title: Hum Mol Genet Volume: 23 Issue: 17 Pages: 4543-4558
  • DOI: 10.1093/hmg/ddu168
  • Peer Reviewed / Open Access
• [Journal Article] Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for fukuyama congenital muscular dystrophy. (2014)
  • Author(s): Kanagawa M, Lu Z, Ito C, Matsuda C, Miyake K, Toda T.
  • Journal Title: Plos ONE Volume: 9 Issue: 9 Pages: e106721-e106721
  • DOI: 10.1371/journal.pone.0106721
  • Peer Reviewed / Open Access
• [Journal Article] Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex. (2014)
  • Author(s): Nagata E, Kano H, Kato F, Yamaguchi R, Nakashima S, Takayama S, Kosaki R, Tonoki H, Mizuno S, Watanabe S, Yoshiura KI, Kosho T, Hasegawa T, Kimizuka M, Suzuki A, Shimizu K, Ohashi H, Haga N, Numabe H, Horii E, Nagai T, Yoshihashi H, Nishimura G, Toda T, et al.
  • Journal Title: Orphanet J Rare Dis Volume: 9 Issue: 1 Pages: 125-125
  • DOI: 10.1186/s13023-014-0125-5
  • Peer Reviewed / Open Access
• [Journal Article] 医学と医療の最前線 筋ジストロフィー治療の新しい展開 (2014)
  • Author(s): 戸田達史
  • Journal Title: 日本内科学会雑誌 Volume: 103 Pages: 2820-2828
• [Journal Article] 福山型筋ジストロフィー 仕組みの解明 治療法開発 (2014)
  • Author(s): 戸田達史
  • Journal Title: 関西実験動物研究会 Volume: 会報36号 Pages: 83-83
• [Presentation] Identification of a new glycosylation with ribitol-phosphate and its defect in ISPD, FCMD and LGMD2I (2017)
  • Author(s): Tatsushi Toda
  • Organizer: 5th International Workshop for Glycosylation Defects in Muscular Dystrophies
  • Int'l Joint Research / Invited
• [Presentation] Fukutin is Ribitol 5-Phosphate Transferase: Recent Advance in Fukuyama Muscular Dystrophy (2017)
  • Author(s): Tatsushi Toda
  • Organizer: 14th Asian and Oceanian Congress of Child Neurology
  • Int'l Joint Research / Invited
• [Presentation] Genetics and nucleic acid therapeutics of Fukuyama muscular dystrophy (2017)
  • Author(s): Tatsushi Toda
  • Organizer: 第一回国際がんプレシジョン医療カンファレンス
  • Int'l Joint Research / Invited
• [Presentation] 福山型筋ジストロフィーを含めた糖鎖合成異常症の系統的な解明と新しい糖鎖の発見 (2017)
  • Author(s): 戸田達史
  • Organizer: 日本筋学会第3回学術集会
  • Invited
• [Presentation] Genomewide Analysis and Molecular Targeting for Neurological Diseases (2017)
  • Author(s): Tatsushi Toda
  • Organizer: International Symposium on Smart Brain Medical Informatics and Engineering
  • Int'l Joint Research / Invited
• [Presentation] Identification of a posttranslational modification with ribitol-phosphate and its defect in muscular dystrophy (2017)
  • Author(s): Tatsushi Toda
  • Organizer: East Asian Unit of Himan Genetics Society
  • Int'l Joint Research / Invited
• [Presentation] 疾患遺伝子の発見から新しい治療法の開発 (2017)
  • Author(s): 戸田達史
  • Organizer: 生命科学系合同年次大会シンポジウム
  • Invited
• [Presentation] 福山型筋ジストロフィーをはじめとするジストログリカン異常症の分子病態と治療 (2016)
  • Author(s): 戸田 達史
  • Organizer: 第2回日本筋学会学術集会
  • Place of Presentation: 国立精神・神経医療研究センター（東京）
  • Year and Date: 2016-08-06
  • Invited
• [Presentation] 福山型先天性筋ジストロフィーの治療法開発 (2016)
  • Author(s): 戸田 達史
  • Organizer: 第57回日本神経学会学術大会
  • Place of Presentation: 神戸国際会議場・神戸国際展示場・神戸ポートピアホテル（神戸）
  • Year and Date: 2016-05-19
  • Invited
• [Presentation] Gene Therapy for Transposon Disease (2016)
  • Author(s): 戸田 達史
  • Organizer: 第57回日本神経学会学術大会
  • Place of Presentation: 神戸国際会議場・神戸国際展示場・神戸ポートピアホテル（神戸）
  • Year and Date: 2016-05-19
  • Invited
• [Presentation] 筋ジストロフィーの分子機構と治療戦略 (2016)
  • Author(s): 戸田 達史
  • Organizer: 第113回日本内科学会
  • Place of Presentation: 東京国際フォーラム（東京）
  • Year and Date: 2016-04-15
  • Invited
• [Presentation] 筋ジストロフィーの分子機構と治療戦略 (2016)
  • Author(s): 戸田 達史
  • Organizer: 第113回日本内科学会
  • Invited
• [Presentation] 福山型先天性筋ジストロフィーの治療法開発 (2016)
  • Author(s): 戸田 達史
  • Organizer: 第57回日本神経学会学術大会
  • Invited
• [Presentation] Gene Therapy for Transposon Disease (2016)
  • Author(s): Tatsushi Toda
  • Organizer: 第57回日本神経学会学術大会
  • Invited
• [Presentation] 福山型筋ジストロフィーをはじめとするジストログリカン異常症の分子病態と治療 (2016)
  • Author(s): 戸田 達史
  • Organizer: 第2回日本筋学会学術集会
  • Invited
• [Presentation] Identification of a post-translational modification with ribitol-phosphate and its defect in muscular dystrophy. (2016)
  • Author(s): Tatsushi Toda
  • Organizer: Warren Workshop VI 2016
  • Int'l Joint Research / Invited
• [Presentation] Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy. (2016)
  • Author(s): Tatsushi Toda
  • Organizer: 21st WMS congress 2016
  • Int'l Joint Research
• [Presentation] Genome-wide Analysis and Molecular Targeting Therapy for Neuro-Muscular deisease. (2016)
  • Author(s): Tatsushi Toda
  • Organizer: 2016 Taiwan-Japan Joint Conference on Genomic Studies and Annual Retreat of Taiwan Genomics and Genetics Society.
  • Int'l Joint Research / Invited
• [Presentation] 福山型筋ジストロフィー及び類縁疾患の糖鎖病態と分子標的治療 (2015)
  • Author(s): 戸田 達史
  • Organizer: 第38回日本分子生物学会年会、第88回日本生化学会大会 合同大会
  • Place of Presentation: 神戸ポートアイランド（神戸）
  • Year and Date: 2015-12-02
  • Invited
• [Presentation] Recent Advances in Muscular Dystrophy (2015)
  • Author(s): Tatsushi Toda
  • Organizer: UNIVERSITY OF WASHINGTON-KOBE UNIVERSITY SYMPOSIUM ON CELL SIGNALING
  • Place of Presentation: seattle, the U.S.A.
  • Year and Date: 2015-09-10
  • Int'l Joint Research / Invited
• [Presentation] Molecular pathogenesis & molecular targeting therapy for a- dystroglycanopathy. (2015)
  • Author(s): Tatsushi Toda
  • Organizer: The 10th Japanese-French Workshop “New advances in treatments of neuromuscular diseases: From Basic to Applied Myology.”
  • Place of Presentation: Paris, France
  • Year and Date: 2015-07-03
  • Int'l Joint Research / Invited
• [Presentation] Use of antisense oligonucleotides in FCMD mouse models. (2015)
  • Author(s): Tatsushi Toda
  • Organizer: 212th ENMC International Workshop Animal models of Congenital Muscular Dystrophies
  • Place of Presentation: Naarden, Netherlands
  • Year and Date: 2015-05-19
  • Int'l Joint Research / Invited
• [Presentation] Genomewide analysis and molecular targeting therapy for neurological diseases (2015)
  • Author(s): Tatsushi Toda
  • Organizer: nature conference - Genomic Variations in Precision Medicine 2015
  • Place of Presentation: Changsha, China
  • Year and Date: 2015-05-17
  • Int'l Joint Research / Invited
• [Presentation] Recent Advances in Genetics of α-Dystroglycanopathy. (2015)
  • Author(s): Tatsushi Toda
  • Organizer: the 13th Asian & Oceanian Congress of Child Neurology (AOCCN)
  • Place of Presentation: Taipei, Taiwan
  • Year and Date: 2015-05-14
  • Int'l Joint Research / Invited
• [Presentation] α-dystroglycanopathy and molecular targeting therapy. (2015)
  • Author(s): Tatsushi Toda
  • Organizer: Fourth International Workshop for Glycosylation Defects in Muscular Dystrophies.
  • Place of Presentation: NC, U.S.A.
  • Year and Date: 2015-04-16
  • Int'l Joint Research / Invited
• [Presentation] 神経・筋疾患の分子メカニズム、遺伝子治療、分子標的治療 / Molecular pathogenesis, genetic counseling, and molecular targeting therapy for neurological and muscular diseases. (2014)
  • Author(s): 戸田達史
  • Organizer: 日本人類遺伝学会第59回大会
  • Place of Presentation: 東京
  • Year and Date: 2014-11-19 – 2014-11-22
  • Invited
• [Presentation] 福山型筋ジストロフィー症の遺伝子治療研究 (2014)
  • Author(s): 戸田達史
  • Organizer: 第３２回全国筋ジストロフィー大阪大会
  • Place of Presentation: 大阪
  • Year and Date: 2014-10-17 – 2014-10-18
  • Invited
• [Presentation] A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy. (2014)
  • Author(s): Tatsushi Toda, Hui Xiong, Tetsuya Oda, Kazuhiro Kobayashi, Shuo Wang, Wataru Satake, Hui Jiao, Yanling Yang, Yutaka Suzuki, Sumio Sugano, Xiru Wu.
  • Organizer: 19th international congress of the world muscle society
  • Place of Presentation: Berlin, Germany
  • Year and Date: 2014-10-07 – 2014-10-11
• [Presentation] Impaired viability of muscle precursor cells in muscular dystrophy with glycosylation defects and amelioration of its severe phenotype by limited gene expression. (2014)
  • Author(s): Motoi Kanagawa, Chih-Chieh Yu, Chiyomi Ito, So-ichiro Fukada, Tomoko Chiyo, Kazuhiro Kobayashi, Takashi Okada, Shin’ichi Takeda, Tatsushi Toda.
  • Organizer: The 13th International Congress on Neuromuscular Diseases (ICNMD)
  • Place of Presentation: Nice, France
  • Year and Date: 2014-07-05 – 2014-07-10
• [Presentation] 神経難病の治療と研究の現状と展望 (2014)
  • Author(s): 戸田 達史
  • Organizer: 第38回日本遺伝カウンセリング学会学術集会
  • Place of Presentation: 近畿大学ノーベンバーホール
  • Year and Date: 2014-06-26 – 2014-06-29
  • Invited
• [Presentation] 福山型筋ジストロフィーの病態基盤と新たな治療法の開発 (2014)
  • Author(s): 戸田 達史
  • Organizer: 第56回日本小児神経学会学術大会
  • Place of Presentation: 浜松
  • Year and Date: 2014-05-28 – 2014-05-31
  • Invited
• [Remarks] 神戸大学大学院 医学研究科 生理学・細胞生物学講座 分子脳科学分野
  • URL: http://www.med.kobe-u.ac.jp/clgene/
• [Patent(Industrial Property Rights)] 筋ジストロフィー関連心筋症の治療又は予防剤 (2018)
  • Inventor(s): 片野坂 友紀、成瀬 恵治、氏原 嘉洋、戸田 達史、金川 基
  • Industrial Property Rights Holder: 片野坂 友紀、成瀬 恵治、氏原 嘉洋、戸田 達史、金川 基
  • Industrial Property Rights Type: 特許
  • Filing Date: 2018
• [Patent(Industrial Property Rights)] ジストログリカン糖鎖修飾異常に伴う疾患の治療剤及び関連酵素測定法 (2016)
  • Inventor(s): 戸田達史、小林千浩、金川基、遠藤玉夫、萬谷博、和田芳直、田尻道子
  • Industrial Property Rights Holder: 戸田達史、小林千浩、金川基、遠藤玉夫、萬谷博、和田芳直、田尻道子
  • Industrial Property Rights Type: 特許
  • Filing Date: 2016
• [Patent(Industrial Property Rights)] ジストログリカン糖鎖修飾異常に伴う疾患の治療剤 (2016)
  • Inventor(s): 戸田 達史、小林 千浩、金川 基、他
  • Industrial Property Rights Holder: 国立大学法人神戸大学、他
  • Industrial Property Rights Type: 特許
  • Industrial Property Number: 2016-160390
  • Filing Date: 2016-08-18