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Molecular mechanism of polyalanine expansion disorders

Research Project

Project/Area Number 25860844
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Pediatrics
Research InstitutionSaitama Medical University

Principal Investigator

OMA Yoko  埼玉医科大学, 医学部, 講師 (50507928)

Research Collaborator ISHIURA Shoichi  同志社大学, 生命医科学部, 教授 (10158743)
TAKAHASHI Shuji  広島大学, 両生類研究センター, 特任准教授 (90447318)
MURAKOSHI Takayuki  埼玉医科大学, 医学部, 教授 (60190906)
HARAMOTO Yoshikazu  産業技術総合研究所, 創薬基盤研究部門, 主任研究員 (30540869)
Project Period (FY) 2013-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2014: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2013: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Keywordsポリアラニン / トリプレットリピート / トリプレットリピート病 / ポリアミノ酸 / ポリグルタミン
Outline of Final Research Achievements

Most causative genes of polyalanine expansion disorders encode transcription factors which are expressed at early development. Expanded polyalanine tracts in these proteins may cause the loss of function of the protein or the gain of novel function. In this study, biochemical and molecular biological analyses in cultured cells were performed to reveal the molecular mechanism of these disorders. In addition, each causative protein was expressed in embryo of Xenopus laevis to analyze its effect on development.

Report

(6 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Research-status Report
  • 2015 Research-status Report
  • 2014 Research-status Report
  • 2013 Research-status Report
  • Research Products

    (4 results)

All 2015 2014 2013

All Journal Article (2 results) (of which Peer Reviewed: 2 results,  Open Access: 1 results,  Acknowledgement Compliant: 1 results) Presentation (2 results)

  • [Journal Article] Nuclear localization of MBNL1: splicing-mediated autoregulation and repression of repeat-derived aberrant proteins.2015

    • Author(s)
      Kino Y, Washizu C, Kurosawa M, Oma Y, Hattori N, Ishiura S, Nukina N.
    • Journal Title

      Hum Mol Genet.

      Volume: 24 Issue: 3 Pages: 740-56

    • DOI

      10.1093/hmg/ddu492

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Manumycin A corrects aberrant splicing of Clcn1 in myotonic dystrophy type 1 (DM1) mice2013

    • Author(s)
      Kosuke Oana, Yoko Oma, Satoshi Suo, Masanori P. Takahashi, Ichizo Nishino, Shin'ichi Takeda, Shoichi Ishiura
    • Journal Title

      Scientific Reports

      Volume: VOL.3 Issue: 1 Pages: 2142-2142

    • DOI

      10.1038/srep02142

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Presentation] 野生型および変異型(ポリアラニン伸長型)Sox3の神経発生における機能解析2015

    • Author(s)
      大間 陽子, 高橋 秀治, 渡邊 ゆり, 石浦 章一, 小谷 典弘, 村越 隆之
    • Organizer
      第38回 日本分子生物学会年会
    • Place of Presentation
      神戸ポートアイランド(兵庫県神戸市)
    • Year and Date
      2015-12-02
    • Related Report
      2015 Research-status Report
  • [Presentation] グルタミン酸・グルタミンリピートの長さがタンパク質の安定性に与える影響2014

    • Author(s)
      中本千里菜, 大間陽子, 三橋弘明, 石浦章一
    • Organizer
      日本生化学会
    • Place of Presentation
      国立京都国際会館(京都府京都市)
    • Year and Date
      2014-10-18
    • Related Report
      2014 Research-status Report

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Published: 2014-07-25   Modified: 2019-07-29  

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