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Studies on the influence of brain and neurons of mutation of synaptic cell adhesion molecule protein, Cadm1 using autism mouse models.

Research Project

Project/Area Number 24500386
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Neuroscience in general
Research InstitutionJichi Medical University

Principal Investigator

Jimbo Eriko  自治医科大学, 医学部, 講師 (20291651)

Co-Investigator(Kenkyū-buntansha) MOMOI Takashi  東京医科大学, 医学部, 客員教授 (40143507)
Project Period (FY) 2012-04-01 – 2016-03-31
Project Status Completed (Fiscal Year 2015)
Budget Amount *help
¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2014: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2013: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2012: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Keywordsシナプス接着分子 / Cadm1 / 変異 / シナプス接着因子
Outline of Final Research Achievements

Autism spectrum disorder is the neurodevelopmental disorder, characterized by impaired social interactions, social communication impairments. It seems that a combination of genetic and environmental, factors contribute to the pathogenesis of autism.Most candidate genes for conferring susceptibility to autism are known to play a role in brain development.
We previously found missense mutations, in the gene-encoding CADM1 in patients. In this study, we aimed to make clear the molecular mechanisms of Autism, and focus the Cadm1 gene and do some experiment about the protein-complex included Cadm1 using the mice of Cadm1-KO, Cadm1-KI and Cadm1-GFP-Tg.
As the results, we found that the mutated CADM1 affected the synaptogenesis, the neuronal maturation, the formation of CADM1-molecular complex.

Report

(5 results)
  • 2015 Annual Research Report   Final Research Report ( PDF )
  • 2014 Research-status Report
  • 2013 Research-status Report
  • 2012 Research-status Report
  • Research Products

    (22 results)

All 2015 2014 2013 2012

All Journal Article (9 results) (of which Peer Reviewed: 9 results,  Open Access: 6 results,  Acknowledgement Compliant: 2 results) Presentation (13 results) (of which Invited: 1 results)

  • [Journal Article] CASPR2 forms a complex with GPR37 via MUPP1 but not with GPR37(R558Q), an autism spectrum disorder-related mutation.2015

    • Author(s)
      Tanabe Y et al.
    • Journal Title

      J Neurochem.

      Volume: 134 Issue: 4 Pages: 783-793

    • DOI

      10.1111/jnc.13168

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] The association of GPR85 with PSD-95-neuroligin complex and autism spectrum disorder: a molecular analysis.2015

    • Author(s)
      Fujita-Jimbo E, Tanabe Y, Yu Z, Kojima K, Mori M, Li H, Iwamoto S, Yamagata T, Momoi MY, Momoi T.
    • Journal Title

      Mol Autism.

      Volume: 6 Issue: 1 Pages: 17-17

    • DOI

      10.1186/s13229-015-0012-5

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Circadian-relevant genes are highly polymorphic in autism spectrum disorder patients.2015

    • Author(s)
      Yang Z, Matsumoto A, Nakayama K, Jimbo EF, Kojima K, Nagata KI, et al.
    • Journal Title

      Brain Dev.

      Volume: 15 Issue: 1 Pages: 91-9

    • DOI

      10.1016/j.braindev.2015.04.006

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] The association of GPR85 with PSD-95-neuroligin complex and autism spectrum disorder: a molecular analysis.2015

    • Author(s)
      Fujita-Jimbo E, Tanabe Y, Yu Z, Kojima K, Mori M, Li H, Iwamoto S, Yamagata T, Momoi MY, Momoi T.
    • Journal Title

      Mol Autism.

      Volume: 6 Pages: 17-17

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Role of an adaptor protein Lin-7B in brain development: possible involvement in autism spectrum disorders.2015

    • Author(s)
      Mizuno M, Matsumoto A, Hamada N, Ito H, Miyauchi A, Jimbo EF, Momoi MY, Tabata H, Yamagata T, Nagata K.
    • Journal Title

      J Neurochem

      Volume: 132 Issue: 1 Pages: 61-69

    • DOI

      10.1111/jnc.12943

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] LIN7A depletion disrupts cerebral cortex development, contributing to intellectual disability in 12q21-deletion syndrome.2014

    • Author(s)
      Matsumoto A, Mizuno M, Hamada N, Nozaki Y, Jimbo E, Momoi M, Nagata K, Yamagata T
    • Journal Title

      PLOS ONE

      Volume: 9 Issue: 3 Pages: e92695-e92695

    • DOI

      10.1371/journal.pone.0092695

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Specific expression of FOXP2 in cerebellum improves ultrasonic vocalization in heterozygous but not in homozygous Foxp2 (R552H) knock-in pups.2014

    • Author(s)
      Fujita-Jimbo E, Momoi T.
    • Journal Title

      Neurosci Lett.

      Volume: 566 Pages: 162-166

    • DOI

      10.1016/j.neulet.2014.02.062

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Genetic deletion of Cadm4 results in myelin abnormalities resembling Charcot-Marie-Tooth neuropathy.2013

    • Author(s)
      Golan N, Kartvelishvily E, Spiegel I, Salomon D, Sabanay H, Rechav K, Vainshtein A, Frechter S, Maik-Rachline G, Eshed-Eisenbach Y, Momoi T, Peles E.
    • Journal Title

      J Neurosci.

      Volume: 33 Issue: 27 Pages: 10950-10961

    • DOI

      10.1523/jneurosci.0571-13.2013

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] A complex of synaptic adhesion molecule CADM1, a molecule related to autism spectrum disorder, with MUPP1 in the cerebellum.2012

    • Author(s)
      Fujita E, et al.
    • Journal Title

      J Neurochem.

      Volume: 123 Issue: 5 Pages: 886-894

    • DOI

      10.1111/jnc.12022

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Presentation] Genetic analysis for circadian rhythm abnormality in autism spectrum disorder.2015

    • Author(s)
      Matsumoto A et al.
    • Organizer
      The American Society of Human Genetics
    • Place of Presentation
      Baltimore Convention Center(Baltimore、USA)
    • Year and Date
      2015-10-07
    • Related Report
      2015 Annual Research Report
  • [Presentation] The Foxp2 promoter-mediated mcherry-visulalized thalamocortical pathway and its alteration in the Foxp2(R552H)-KI mice.2015

    • Author(s)
      Jimbo E et al.
    • Organizer
      第38回日本神経科学会
    • Place of Presentation
      神戸国際会議場、神戸国際展示場(神戸)
    • Year and Date
      2015-07-30
    • Related Report
      2015 Annual Research Report
  • [Presentation] TIMELESS mutation in a patient with autism spectrum disorder (ASD) and circa dian rhythm disorder.2015

    • Author(s)
      Matsumoto A et al.
    • Organizer
      第57回日本小児神経学会学術集会
    • Place of Presentation
      帝国ホテル大阪(大阪)
    • Year and Date
      2015-05-28
    • Related Report
      2015 Annual Research Report
  • [Presentation] 欠損マウスにおける超音波異常と自閉性障害2014

    • Author(s)
      神保恵理子、インホフベアト、桃井隆
    • Organizer
      第37回日本分子生物学会年会
    • Place of Presentation
      横浜
    • Year and Date
      2014-11-27
    • Related Report
      2014 Research-status Report
  • [Presentation] Trappc5, a constituent of TRAPP complex, is up-regulated in cerebellum expressing FOXP2 and involved in synaptogenesis2014

    • Author(s)
      Jimbo Eriko, Tanabe Yuko, Imhof Beat, Momoi Takashi
    • Organizer
      第37回日本神経科学大会
    • Place of Presentation
      横浜
    • Year and Date
      2014-09-13
    • Related Report
      2014 Research-status Report
  • [Presentation] 発達障害はいつ形成されるか?先天性?後天性?あるいは両方か ~発症および病態修飾のメカニズムについて (発達障害における遺伝性要因(先天的素因)について)~2014

    • Author(s)
      神保恵理子、桃井眞里子
    • Organizer
      第56回日本小児神経学会学術集会
    • Place of Presentation
      静岡
    • Year and Date
      2014-05-30
    • Related Report
      2014 Research-status Report
    • Invited
  • [Presentation] 自閉性障害原因遺伝子CADM1に結合する足場タンパクMUPP1の遺伝子変異解析2014

    • Author(s)
      楊志亮、小島華林、神保恵理子、山形崇倫、桃井隆、桃井眞里子
    • Organizer
      第56回日本小児神経学会学術集会
    • Place of Presentation
      静岡
    • Year and Date
      2014-05-30
    • Related Report
      2014 Research-status Report
  • [Presentation] 自閉性障害原因遺伝子変異と小胞体ストレスの関与2014

    • Author(s)
      小島華林、神保恵理子、松本歩、楊志亮、山形崇倫、桃井隆、桃井眞里子
    • Organizer
      第56回日本小児神経学会学術集会
    • Place of Presentation
      静岡
    • Year and Date
      2014-05-29
    • Related Report
      2014 Research-status Report
  • [Presentation] 自閉性障害患者に見出したGPR85変異についての解析2013

    • Author(s)
      神保恵理子、ゆじりん、山形崇倫、小島華林、松本歩、田辺裕子、桃井隆、桃井真里子
    • Organizer
      第36回 日本神経科学大会
    • Place of Presentation
      京都
    • Related Report
      2013 Research-status Report
  • [Presentation] マウス脳における自閉性障害に関係するCadm1とCntnap2の分子複合体の解析2013

    • Author(s)
      田辺裕子、藤田恵理子、桃井隆
    • Organizer
      第36回 日本神経科学大会
    • Place of Presentation
      京都
    • Related Report
      2013 Research-status Report
  • [Presentation] 自閉性障害に関与するシナプス接着因子Cadm1とMultiple PDZ domain protein(Mupp1)の関与2012

    • Author(s)
      神保恵理子、小島華林、田辺裕子、山形崇倫、桃井真里子、桃井隆
    • Organizer
      第35回日本神経科学大会
    • Place of Presentation
      名古屋
    • Related Report
      2012 Research-status Report
  • [Presentation] CADM1遺伝子変異をもつ自閉性障害患者のリンパ芽球を用いた小胞体ストレス感受性についての検討2012

    • Author(s)
      小島華林、松本歩、楊志亮、神保恵理子、山形崇倫、桃井眞里子
    • Organizer
      日本人類遺伝学会第57回大会
    • Place of Presentation
      東京
    • Related Report
      2012 Research-status Report
  • [Presentation] Secretin receptor and the associated molecular processes relevant to autism spectrum disorder.2012

    • Author(s)
      Kojima K, Yamagata T, Saito M, Matsumoto A, Jimbo EF, Momoi MY
    • Organizer
      American Society of Human Genetics (ASHG) 62nd annual meeting
    • Place of Presentation
      San Francisco
    • Related Report
      2012 Research-status Report

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Published: 2013-05-31   Modified: 2019-07-29  

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