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

Research Project

Project/Area Number 17H01563
Research Category

Grant-in-Aid for Scientific Research (A)

Allocation TypeSingle-year Grants
Section一般
Research Field Neurology
Research InstitutionThe University of Tokyo (2018-2019)
Kobe University (2017)

Principal Investigator

Toda Tatsushi  東京大学, 医学部附属病院, 教授 (30262025)

Co-Investigator(Kenkyū-buntansha) 小林 千浩  神戸大学, 医学研究科, 准教授 (90324780)
Project Period (FY) 2017-04-01 – 2020-03-31
Project Status Completed (Fiscal Year 2019)
Budget Amount *help
¥42,900,000 (Direct Cost: ¥33,000,000、Indirect Cost: ¥9,900,000)
Fiscal Year 2019: ¥12,350,000 (Direct Cost: ¥9,500,000、Indirect Cost: ¥2,850,000)
Fiscal Year 2018: ¥14,040,000 (Direct Cost: ¥10,800,000、Indirect Cost: ¥3,240,000)
Fiscal Year 2017: ¥16,510,000 (Direct Cost: ¥12,700,000、Indirect Cost: ¥3,810,000)
Keywords福山型筋ジストロフィー / アンチセンス核酸 / ジストログリカン / リビトールリン酸異常症 / ジストログリカノパチー
Outline of Final Research Achievements

As a therapeutic agent for Fukuyama muscular dystrophy, a single candidate sequence showing high activity was found by comprehensive screening of antisense nucleic acids, and toxicity and pharmacokinetics were investigated in GLP grade. The presence or absence of DG sugar chains in the radial glial contributes to the severity of subsequent brain lesions during brain formation in four DG disorder mice. The fukutin gene was introduced into the 12.5 day-old brain by in utero electroporation to prevent the onset of cerebral cortical dysplasia. DG sugar chain deficiency contributes to the pathophysiology of cardiomyopathy due to a reduction in myocardial hypertrophic response to hemodynamic stress and a reduction in contractile force of individual cardiomyocytes. As we found Golgi-microtubule structural abnormalities, reducing microtubule structural abnormalities with microtubule polymerization inhibitors leads to treatment.

Academic Significance and Societal Importance of the Research Achievements

日本固有のFCMDの治療法開発は、我が国の筋ジストロフィー研究における重要課題とされているが、FCMDの治療法確立がかなり進む。また他のαジストログリカノパチー各疾患にも応用可能で、社会的・学術的な意義は非常に大きい。我々が発見したリビトールリン酸糖鎖と、その修飾に関わるフクチン、FKRP、ISPDの機能は、DG異常症研究のブレイクスルーである。CDP-リビトールが哺乳類細胞で生理機能を担っていることは想定すらされておらず、その医薬品としての応用は画期的である。治療法のない不治の病にむかって、今はじめて分子標的治療ができつつあるのは、患者、家族、国民にとって福音である。

Report

(4 results)
  • 2019 Annual Research Report   Final Research Report ( PDF )
  • 2018 Annual Research Report
  • 2017 Annual Research Report
  • Research Products

    (66 results)

All 2020 2019 2018 2017

All Journal Article (29 results) (of which Int'l Joint Research: 4 results,  Peer Reviewed: 25 results,  Open Access: 24 results) Presentation (33 results) (of which Int'l Joint Research: 11 results,  Invited: 32 results) Book (3 results) Patent(Industrial Property Rights) (1 results)

  • [Journal Article] A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients2020

    • Author(s)
      Song Danyu、Fu Xiaona、Ge Lin、Chang Xingzhi、Wei Cuijie、Liu Jieyu、Yang Haipo、Qu Suqing、Bao Xinhua、Toda Tatsushi、Wu Xiru、Xiong Hui
    • Journal Title

      Clinical Genetics

      Volume: 97(5) Issue: 5 Pages: 789-790

    • DOI

      10.1111/cge.13695

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Crystal structures of fukutin-related protein (FKRP), a ribitol-phosphate transferase related to muscular dystrophy.2020

    • Author(s)
      Kuwabara N, Imae R, Manya H, Tanaka T, Mizuno M, Tsumoto H, Kanagawa M, Kobayashi K, Toda T, Senda T, Endo T, Kato R.
    • Journal Title

      Nat Commun.

      Volume: 11 Issue: 1 Pages: 303-303

    • DOI

      10.1038/s41467-019-14220-z

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Characterization of dystroglycan binding in adhesion of human induced pluripotent stem cells to laminin-511 E8 fragment2019

    • Author(s)
      Sugawara Yumika、Hamada Keisuke、Yamada Yuji、Kumai Jun、Kanagawa Motoi、Kobayashi Kazuhiro、Toda Tatsushi、Negishi Yoichi、Katagiri Fumihiko、Hozumi Kentaro、Nomizu Motoyoshi、Kikkawa Yamato
    • Journal Title

      Scientific Reports

      Volume: 9 Issue: 1 Pages: 1-12

    • DOI

      10.1038/s41598-019-49669-x

    • NAID

      120006728095

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Elimination of fukutin reveals cellular and molecular pathomechanisms in muscular dystrophy-associated heart failure2019

    • Author(s)
      Ujihara Yoshihiro、Kanagawa Motoi、Mohri Satoshi、Takatsu Satomi、Kobayashi Kazuhiro、Toda Tatsushi、Naruse Keiji、Katanosaka Yuki
    • Journal Title

      Nature Communications

      Volume: 10 Issue: 1 Pages: 5754-5754

    • DOI

      10.1038/s41467-019-13623-2

    • NAID

      120006777089

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] 福山幸夫(1928-2014)福山型筋ジストロフィーの発見2019

    • Author(s)
      戸田 達史
    • Journal Title

      生体の科学

      Volume: 70(5) Pages: 484-485

    • Related Report
      2019 Annual Research Report
  • [Journal Article] 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治療を目指して2019

    • Author(s)
      戸田達史
    • Journal Title

      脳と発達.

      Volume: 51(6) Pages: 367-372

    • Related Report
      2019 Annual Research Report
  • [Journal Article] 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・治療に関する研究2019

    • Author(s)
      戸田達史
    • Journal Title

      日本医師会雑誌

      Volume: 148(9) Pages: 1785-1789

    • Related Report
      2019 Annual Research Report
  • [Journal Article] 筋ジストロフィー近年わかってきた分子機構と治療戦略2019

    • Author(s)
      戸田達史
    • Journal Title

      SRL宝函

      Volume: 40(4) Pages: 12-21

    • Related Report
      2019 Annual Research Report
  • [Journal Article] Temporal requirement of dystroglycan glycosylation during brain development and rescue of severe cortical dysplasia via gene delivery in the fetal stage2018

    • Author(s)
      Sudo Atsushi、Kanagawa Motoi、Kondo Mai、Ito Chiyomi、Kobayashi Kazuhiro、Endo Mitsuharu、Minami Yasuhiro、Aiba Atsu、Toda Tatsushi
    • Journal Title

      Human molecular genetics

      Volume: 27 Issue: 7 Pages: 1174-1185

    • DOI

      10.1093/hmg/ddy032

    • NAID

      120006459805

    • Related Report
      2018 Annual Research Report 2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Ribitol-phosphate-a newly identified posttranslational glycosylation unit in mammals: structure, modification enzymes and relationship to human diseases2018

    • Author(s)
      Kanagawa Motoi、Toda Tatsushi
    • Journal Title

      The Journal of Biochemistry

      Volume: 163 Issue: 5 Pages: 359-369

    • DOI

      10.1093/jb/mvy020

    • Related Report
      2018 Annual Research Report 2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Cell surface flip-flop of phosphatidylserine is critical for PIEZO1-mediated myotube formation2018

    • Author(s)
      Tsuchiya Masaki、Hara Yuji、Okuda Masaki、Itoh Karin、Nishioka Ryotaro、Shiomi Akifumi、Nagao Kohjiro、Mori Masayuki、Mori Yasuo、Ikenouchi Junichi、Suzuki Ryo、Tanaka Motomu、Ohwada Tomohiko、Aoki Junken、Kanagawa Motoi、Toda Tatsushi、Nagata Yosuke、Matsuda Ryoichi、Takayama Yasunori、Tominaga Makoto、Umeda Masato
    • Journal Title

      Nature Communications

      Volume: 9 Issue: 1 Pages: 2049-2049

    • DOI

      10.1038/s41467-018-04436-w

    • NAID

      120006471161

    • Related Report
      2018 Annual Research Report 2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] CDP-glycerol inhibits the synthesis of the functionalO-mannosyl glycan of α-dystroglycan2018

    • Author(s)
      Imae Rieko、Manya Hiroshi、Tsumoto Hiroki、Osumi Kenji、Tanaka Tomohiro、Mizuno Mamoru、Kanagawa Motoi、Kobayashi Kazuhiro、Toda Tatsushi、Endo Tamao
    • Journal Title

      Journal of Biological Chemistry

      Volume: 293 Issue: 31 Pages: 12186-12198

    • DOI

      10.1074/jbc.ra118.003197

    • Related Report
      2018 Annual Research Report 2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] National registry of patients with Fukuyama congenital muscular dystrophy in Japan.2018

    • Author(s)
      Ishigaki K, Ihara C, Nakamura H, Mori-Yoshimura M, Maruo K, Taniguchi-Ikeda M, Kimura E, Murakami T, Sato T, Toda T, Kaiya H, Osawa M.
    • Journal Title

      Neuromuscul Disord.

      Volume: 10 Issue: 10 Pages: 885-893

    • DOI

      10.1016/j.nmd.2018.08.001

    • Related Report
      2018 Annual Research Report 2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] ニューロジェネティクスの歴史と展望2018

    • Author(s)
      戸田達史
    • Journal Title

      Clinical Neuroscience別冊

      Volume: 36 Pages: 150-155

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] 福山型筋ジストロフィー2018

    • Author(s)
      戸田達史
    • Journal Title

      難病と在宅ケア

      Volume: 23 Pages: 14-17

    • Related Report
      2018 Annual Research Report 2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] 実験医学2018

    • Author(s)
      金川基、戸田達史.
    • Journal Title

      リビトールリン酸糖鎖異常型筋ジストロフィーの病態解明と治療法開発

      Volume: 36 Pages: 182-187

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] 福山型筋ジストロフィーに対する核酸医薬研究2018

    • Author(s)
      戸田達史
    • Journal Title

      神経内科

      Volume: 89 Pages: 518-524

    • Related Report
      2018 Annual Research Report 2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] 希少疾患・難病への治療法開発2018

    • Author(s)
      戸田達史
    • Journal Title

      .医学のあゆみ

      Volume: 266 Pages: 421-426

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] ニューロジェネティクスの歴史と展望2018

    • Author(s)
      戸田達史
    • Journal Title

      Clinical Neuroscience

      Volume: 36 Pages: 150-155

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] リビトールリン酸糖鎖異常型筋ジストロフィーの病態解明と治療法開発2018

    • Author(s)
      金川基、戸田達史
    • Journal Title

      実験医学

      Volume: 36 Pages: 82-187

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] 希少疾患・難病への治療法開発2018

    • Author(s)
      戸田達史
    • Journal Title

      医学のあゆみ

      Volume: 266 Pages: 421-426

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] The Ror1 receptor tyrosine kinase plays a critical role in regulating satellite cell proliferation during regeneration of injured muscle2017

    • 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

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Less limb muscle involvement in myositis patients with anti-mitochondrial antibodies.2017

    • Author(s)
      Uenaka T, Kowa H, Ohtsuka Y, Seki T, Sekiguchi K, Kanda F, Toda T.
    • Journal Title

      Eur Neurol

      Volume: 78 Issue: 5-6 Pages: 290-295

    • DOI

      10.1159/000481503

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [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

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan2017

    • 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

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy2017

    • 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

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy2017

    • 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

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] 福山型筋ジストロフィーのアンチセンス核酸治療2017

    • Author(s)
      戸田達史
    • Journal Title

      神経疾患治療ストラテジー

      Volume: 8 Pages: 362-367

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 福山型筋ジストロフィー2017

    • Author(s)
      戸田達史
    • Journal Title

      遺伝子医学MOOK(32) 難病研究up-to-date

      Volume: 32 Pages: 175-181

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Presentation] 「なおらない」から「なおる」へ ゲノム科学にもとづく疾患の解明と分子標的治療~遺伝性疾患と孤発性疾患の場合2020

    • Author(s)
      戸田達史
    • Organizer
      第8回Academy of Aging and Cardiovascular-Diabetes Research
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] 「なおらない」から「なおる」へ 脳神経内科疾患の解明と分子標的治療2020

    • Author(s)
      戸田達史
    • Organizer
      北東北神経疾患講演会2020
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] Antisense Therapy for Fukuyama Type Congenital Muscular Dystrophy and Our Recent Advance in Parkinson’s Disease2019

    • Author(s)
      戸田達史
    • Organizer
      中国医学科学院医学生物学研究所主催セミナー
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Recent advance and molecular targeting therapy in congenital muscular dystrophy2019

    • Author(s)
      戸田達史
    • Organizer
      Peking University Pediatric Neurology Forum
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] 福山型筋ジストロフィー遺伝子の発見から診断と治療、最新の知見2019

    • Author(s)
      戸田達史
    • Organizer
      第17回東北・北海道代謝異常症研究会
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] パーキンソン病・筋疾患の解明と分子標的治療2019

    • Author(s)
      戸田達史
    • Organizer
      第2回奈良脳神経内科フォーラム
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] 私が学んだ神経学、遺伝学2019

    • Author(s)
      戸田達史
    • Organizer
      第6回Neurology Forum
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] 福山型筋ジストロフィー ―解明から克服にむけて 下志津病院から始まった私の研究―2019

    • Author(s)
      戸田達史
    • Organizer
      第11回国立病院機構関東信越グループ神経筋ネットワーク研究会
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] 福山型筋ジストロフィーのすべて2019

    • Author(s)
      戸田達史
    • Organizer
      第97回NeuroMuscular Conference
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] 福山型筋ジストロフィー―解明から克服に向けて―2019

    • Author(s)
      戸田達史
    • Organizer
      第6回筋ジストロフィー医療研究会
    • Related Report
      2019 Annual Research Report
    • 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・治療に関する研究2019

    • Author(s)
      戸田達史
    • Organizer
      日本医師会設立72周年記念式典並びに医学大会
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] 福山型筋ジストロフィーを含む糖鎖合成異常症とパーキンソン病の統合的理解と治療をめざして2019

    • Author(s)
      戸田達史
    • Organizer
      神経化学会理事会企画シンポジウム
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] 「なおらない」から「なおる」へ パーキンソン病・筋疾患の解明と分子標的治療,2019

    • Author(s)
      戸田達史
    • Organizer
      第10回鹿児島神経内科先端セミナー
    • Related Report
      2019 Annual Research Report
    • 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治療をめざして2018

    • Author(s)
      戸田達史
    • Organizer
      第60回日本小児神経学会学術集会
    • Related Report
      2018 Annual Research Report 2017 Annual Research Report
    • Invited
  • [Presentation] Fukutin is ribito 5-phosphate transferase: recent advance in Fukuyma muscular dystropy, ISPD, and LGMD2I2018

    • Author(s)
      戸田達史
    • Organizer
      11th Japanese-French Workshop
    • Related Report
      2018 Annual Research Report 2017 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] パーキンソン病・筋疾患の解明と分子標的治療2018

    • Author(s)
      戸田達史
    • Organizer
      Niigata Neurology Forum
    • Related Report
      2018 Annual Research Report 2017 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] 認知症、神経難病の解明と分子標的治療2018

    • Author(s)
      戸田達史
    • Organizer
      秋田臨床神経懇話会
    • Related Report
      2018 Annual Research Report
    • Invited
  • [Presentation] 筋ジストロフィーと最新治療研究開発2018

    • Author(s)
      戸田達史
    • Organizer
      第10回生きていくこと、呼吸すること
    • Related Report
      2018 Annual Research Report 2017 Annual Research Report
    • Invited
  • [Presentation] パーキンソン病・筋疾患の解明と分子標的治療2018

    • Author(s)
      戸田達史
    • Organizer
      第17回岐阜脳神経外科研究会
    • Related Report
      2018 Annual Research Report 2017 Annual Research Report
    • Invited
  • [Presentation] 筋ジストロフィーと最新治療研究開発2018

    • Author(s)
      戸田達史
    • Organizer
      平成30年度筋ジストロフィー研修会
    • Related Report
      2018 Annual Research Report 2017 Annual Research Report
    • Invited
  • [Presentation] 福山型筋ジストロフィーをふくめた糖鎖合成異常症の系統的な解明と治療をめざして2018

    • Author(s)
      戸田達史
    • Organizer
      第4回宮城 神経・筋疾患学術講演会
    • Related Report
      2018 Annual Research Report 2017 Annual Research Report
    • Invited
  • [Presentation] Antisense Therapy for Fukuyama congenital muscular dystrophy (FCMD) and recent advance in dystroglycanopathies, FCMD, ISPD , and LGMD2l2018

    • Author(s)
      戸田達史
    • Organizer
      第19回国際神経病理学会
    • Related Report
      2018 Annual Research Report 2017 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] 動きと神経筋疾患2018

    • Author(s)
      戸田達史
    • Organizer
      第91回日本生化学会大会
    • Related Report
      2018 Annual Research Report 2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] 遺伝性神経難病(ALS,SCDほか)の進歩と我々の活動に関して2018

    • Author(s)
      戸田達史
    • Organizer
      第19回山梨神経難病セミナー
    • Related Report
      2018 Annual Research Report 2017 Annual Research Report
    • Invited
  • [Presentation] Fukuyama type congenital muscular dystrophy2018

    • Author(s)
      戸田達史
    • Organizer
      IJCGM International Joint Conference on Genetics&Medicine
    • Related Report
      2018 Annual Research Report 2017 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] 福山型筋ジストロフィー フクチンの発見と根本的治療への挑戦2018

    • Author(s)
      戸田達史
    • Organizer
      平成30年度 独立行政法人国立病院機構 良質な医師を育てる研修「神経・筋(神経難病)診療中級研修」
    • Related Report
      2018 Annual Research Report 2017 Annual Research Report
    • Invited
  • [Presentation] 認知症、神経難病の解明と分子標的治療2018

    • Author(s)
      戸田達史
    • Organizer
      秋田臨床神経懇話会 特別講演会
    • Related Report
      2017 Annual Research Report
    • Invited
  • [Presentation] Identification of a new glycosylation with ribitol-phosphate and its defect in ISPD, FCMD and LGMD2I2017

    • Author(s)
      戸田達史
    • Organizer
      5th International Workshop for Glycosylation Defects in Muscular Dystrophies
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Fukutin is Ribitol 5-Phosphate Transferase: Recent Advance in Fukuyama Muscular Dystrophy2017

    • Author(s)
      戸田達史
    • Organizer
      14th Asian and Oceanian Congress of Child Neurology
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Genetics and nucleic acid therapeutics of Fukuyama muscular dystrophy2017

    • Author(s)
      戸田達史
    • Organizer
      第一回国際がんプレシジョン医療カンファレンス
    • Related Report
      2017 Annual Research Report
    • 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
    • Related Report
      2017 Annual Research Report
    • Invited
  • [Presentation] Identification of a posttranslational modification with ribitol-phosphate and its defect in muscular dystrophy2017

    • Author(s)
      戸田達史
    • Organizer
      East Asian Unit of Himan Genetics Society
    • Related Report
      2017 Annual Research Report
    • 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
    • Related Report
      2017 Annual Research Report
    • Invited
  • [Book] 先天性筋ジストロフィー(福山型先天性筋ジストロフィーを含む).今日の疾患辞典デジタル版2019

    • Author(s)
      久保田暁,戸田達史
    • Total Pages
      1000
    • Publisher
      株式会社プレシジョン
    • Related Report
      2019 Annual Research Report
  • [Book] Human Pathobiochemistry From Clinical Studies to Molecular Mechanisms,2019

    • Author(s)
      Kanagawa M, Tokuoka H, Toda T
    • Total Pages
      349
    • Publisher
      Springer
    • ISBN
      9789811329777
    • Related Report
      2018 Annual Research Report
  • [Book] Human Pathobiochemistry From Clinical Studies to Molecular Mechanisms2019

    • Author(s)
      Kanagawa M, Tokuoka H, Toda T
    • Total Pages
      349
    • Publisher
      Springer
    • ISBN
      9789811329777
    • Related Report
      2017 Annual Research Report
  • [Patent(Industrial Property Rights)] 福山型筋ジストロフィー治療用アンチセンス核酸2019

    • Inventor(s)
      戸田達史他
    • Industrial Property Rights Holder
      戸田達史他
    • Industrial Property Rights Type
      特許
    • Filing Date
      2019
    • Acquisition Date
      2019
    • Related Report
      2019 Annual Research Report

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Published: 2017-04-28   Modified: 2021-02-19  

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