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Elucidation of molecular mechanisms underlying cell-adhesion molecule-dependent autism spectrum disorders

Research Project

Project/Area Number 25670149
Research Category

Grant-in-Aid for Challenging Exploratory Research

Allocation TypeMulti-year Fund
Research Field General medical chemistry
Research InstitutionKyoto University

Principal Investigator

HARA Yuji  京都大学, 工学(系)研究科(研究院), 准教授 (60362456)

Co-Investigator(Kenkyū-buntansha) TANABE Kenji  東京女子医科大学, 医学部, テニュアトラック准教授 (80423341)
Project Period (FY) 2013-04-01 – 2015-03-31
Project Status Completed (Fiscal Year 2014)
Budget Amount *help
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2014: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
Fiscal Year 2013: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Keywords細胞接着因子 / 自閉症 / Neurexinファミリー / CNTNAP2 / タンパク質ラベル化法 / ジストログリカン / 細胞外マトリックス / 神経接着因子 / プロテオーム解析
Outline of Final Research Achievements

Interactions mediated by cell adhesion molecules are important for fine-tuning of neuronal activities. It has been shown that disrupted interactions between pre- and post-synaptic cells lead to a variety of neural diseases including autism spectrum disorders. In this study we aimed to elucidate the molecular mechanisms underlying autism spectrum disorders, by means of identification interacting molecules for autism spectrum disorder-related factor CNTNAP2.
We carried out proteomic approaches by utilizing the extracellular region of CNTNAP2 as an affinity column. However, during the course of this study, other researchers identified CNTNAP2-interacting molecules by complehensive proteomic approaches. Thus we decided to also focus on other cell-cell adhesion molecules such as CNTNAP4 that is involved in synaptic transmission in mice.

Report

(3 results)
  • 2014 Annual Research Report   Final Research Report ( PDF )
  • 2013 Research-status Report
  • Research Products

    (7 results)

All 2015 2014

All Journal Article (5 results) (of which Peer Reviewed: 3 results,  Open Access: 2 results,  Acknowledgement Compliant: 1 results) Presentation (2 results) (of which Invited: 1 results)

  • [Journal Article] Dominant mutations in ORAI1 cause tubular-aggregate-myopathy with hypocalcemia by constitutive activation of store-operated Ca2+ channel2014

    • Author(s)
      Endo Y, Noguchi S, Hara Y, Hayashi YK, Motomura K, Murakami N, Tanaka S, Yamashita S, Kizu R, Bamba M, Goto Y, Matsumoto N, Nonaka I, Nishino I.
    • Journal Title

      Hum Mol Genet

      Volume: 24(3) Issue: 3 Pages: 637-648

    • DOI

      10.1093/hmg/ddu477

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Endogenous Glucuronyltransferase Activity of LARGE or LARGE2 Required for Functional Modification of α-dystroglycan in Cells and Tissues.2014

    • Author(s)
      2)Inamori KI, Willer T, Hara Y, Venzke D, Anderson ME, Clarke NF, Guicheney P, Bönnemann CG, Moore SA, *Campbell KP.
    • Journal Title

      J Biol Chem

      Volume: 289 Issue: 41 Pages: 28138-28148

    • DOI

      10.1074/jbc.m114.597831

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed
  • [Journal Article] The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation.2014

    • Author(s)
      3)Willer T, Inamori K, Venzke D, Harvey C, Morgensen G, Hara Y, Beltrán Valero de Bernabé D, Yu L, Wright KM, *Campbell KP.
    • Journal Title

      eLIFE

      Volume: 3

    • DOI

      10.7554/elife.03941

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Dystroglycan: An Extracellular Matrix Receptor That Links to the Cytoskeleton2014

    • Author(s)
      4)Hara Y, *Campbell KP.
    • Journal Title

      Glycoscience: Biol Med

      Volume: Part XIII Pages: 1245-1251

    • Related Report
      2014 Annual Research Report
  • [Journal Article] 膜タンパク質ジストログリカン機能不全と筋ジストロフィー2014

    • Author(s)
      原雄二
    • Journal Title

      ファルマシア

      Volume: 50 Pages: 528-532

    • NAID

      130005160523

    • Related Report
      2014 Annual Research Report
  • [Presentation] The molecular pathomechanisms underlying muscular dystrophy2015

    • Author(s)
      Yuji Hara
    • Organizer
      熊本大学リエゾンラボ研究会/HIGO最先端研究セミナー
    • Place of Presentation
      熊本大学発生医学研究所
    • Year and Date
      2015-06-09
    • Related Report
      2014 Annual Research Report
    • Invited
  • [Presentation] The role of asymmetric distribution of phospholipids in skeletal muscle2014

    • Author(s)
      Yuji Hara, Masaki Tsuchiya, Ryotaro Nishioka, Masato Umeda
    • Organizer
      第87回日本生化学会年会
    • Place of Presentation
      国立京都国際会館
    • Year and Date
      2014-10-17
    • Related Report
      2014 Annual Research Report

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

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