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2009 Fiscal Year Final Research Report

New pathomechanism and the application of the treatment for Fukuyama-type congenital muscular dystrophy

Research Project

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Project/Area Number 20790725
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeSingle-year Grants
Research Field Pediatrics
Research InstitutionOsaka University

Principal Investigator

TANIGUCHI Mariko  Osaka University, 医学研究科, 特任助教(常勤) (00410738)

Project Period (FY) 2008 – 2009
Keywords先天生筋ジストロフィー / ゲノム創薬 / スプライシング異常 / アンチセンス治療
Research Abstract

1, We revealed that FCMD is caused by splicing abnormality which is induced by pathogenic exon trapping of SVA retrotransposal insertion. 2, We also detected the abnormal fukutin protein in FCMD. 3, We checked that the same abnormal splicing pattern was seen in FCMD model mice. 4 We adopted phosphorothioate-linked 2'-O-methyl RNA (2'OMePS) and Morpholino oligonucleotides to design several 25 mer AONs to search the best target sequences.

  • Research Products

    (10 results)

All 2010 2009 2008 Other

All Journal Article (2 results) (of which Peer Reviewed: 2 results) Presentation (5 results) Book (2 results) Remarks (1 results)

  • [Journal Article] Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy2009

    • Author(s)
      Kanagawa, M., Nishimoto, A., Chiyonobu, T., Takeda, S., Miyagoe-Suzuki, Y., Wang, F., Fujikake, N., Taniguchi, M., Lu, Z., Tachikawa, M., Nagai, Y., Tashiro, F., Miyazaki, J., Tajima, Y., Takeda, S., Endo, T., Kobayashi, K., Campbell, K.P., Toda, T.
    • Journal Title

      Hum. Mol. Genet 18

      Pages: 621-631

    • Peer Reviewed
  • [Journal Article] Chromosomal instability mediated by non-B DNA: cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans2009

    • Author(s)
      Inagaki, H., Ohye, T., Kogo, T., Kato, T., Bolor, H., Taniguchi, M., Shaikh, T.H., Emanuel, B.S., Kurahashi, H.
    • Journal Title

      Genome Res 19

      Pages: 191-198

    • Peer Reviewed
  • [Presentation] 福山型先天性筋ジストロフィーはスプライシング病である2010

    • Author(s)
      谷口真理子、小林千浩、金川基、戸田 達史
    • Organizer
      筋ジストロフィー総合班会議
    • Place of Presentation
      東京
    • Year and Date
      2010-01-15
  • [Presentation] 福山型先天性筋ジストロフィーはスプライシング病である2009

    • Author(s)
      谷口真理子、小林千浩、金川基、戸田 達史
    • Organizer
      砂田班班会議
    • Place of Presentation
      東京、日本
    • Year and Date
      20091211-20091212
  • [Presentation] Residual laminin -binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy2009

    • Author(s)
      Taniguchi, M., Kanagawa, M., (3) Kobayashi, K., Campbell, K.P., Toda, T.
    • Organizer
      20th Glycobiology Joint Meeting
    • Place of Presentation
      Koln, Germany
    • Year and Date
      20091108-20091110
  • [Presentation] Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycano pathy2009

    • Author(s)
      Taniguchi, M., Kanagawa, M., (4), Campbell, K.P., Toda, T.
    • Organizer
      The American Society of Human Genetics
    • Place of Presentation
      Hawaii, USA
    • Year and Date
      20091020-20091024
  • [Presentation] Residual laminin-binding activity and enhanceddystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy2009

    • Author(s)
      Taniguchi, M., Kanagawa, M., Miyagoe-Suzuki, Y., Takeda, S., Endo, T., Kobayashi, K., Campbell, K.P., Toda, T.
    • Organizer
      The 15th World Muscle Society Genova
    • Place of Presentation
      Switzerand
    • Year and Date
      20090909-20090913
  • [Book] 小児の症候群、cat eye症候群、Coffin-Siris症候群、Cohen症候群、小児科診療2009

    • Publisher
      診断と治療社
  • [Book] 先天性筋ジストロフィー8月号(小児内科、小児科医のための遺伝学)2008

    • Publisher
      東京医学社
  • [Remarks]

    • URL

      http://www.fbs.osaka-u.ac.jp/organellenetwork/index.php

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Published: 2011-06-18   Modified: 2016-04-21  

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