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Postnatal brain development regulated by intellectual disability-associated protein complex

Research Project

Project/Area Number 24650199
Research Category

Grant-in-Aid for Challenging Exploratory Research

Allocation TypeMulti-year Fund
Research Field Neurochemistry/Neuropharmacology
Research InstitutionKyushu University

Principal Investigator

SAKAI YASUNARI  九州大学, 大学病院, 講師 (10380396)

Project Period (FY) 2012-04-01 – 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: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2013: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2012: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Keywords精神遅滞 / DEAF1 / 複合体 / FMRP / 分子シグナル / 脳 / 発達遅滞 / 神経軸索 / FMR1 / 神経成熟 / 細胞内局在 / タンパク質相互作用 / 発達 / タンパク質複合体
Outline of Final Research Achievements

We analyzed the expression patterns of intellectual disability-associated protein DEAF1 in the postnatal period of wild-type mouse brain. Immunofluorescence study revealed that DEAF1 was highly expressed in the neuronal dendrites of cerebral cortex and hippocampus. Commercially available antibodies were not able to enrich DEAF1 in the immunoprecipitation assays using the mouse brain extracts. Thus DEAF1-FMRP complex was not detected in this study. Knockdown and overexpression of DEAF1 in Neuro2a cells suggested that DEAF1 is involved in the process for extension of dendrites. We are currently investigating the molecular mechanisms underlying these neuronal phenotypes.

Report

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

    (12 results)

All 2015 2014 2013 Other

All Journal Article (7 results) (of which Peer Reviewed: 7 results,  Acknowledgement Compliant: 2 results) Presentation (5 results) (of which Invited: 2 results)

  • [Journal Article] Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay2015

    • Author(s)
      Saitsu H, Fukai R, Ben-Zeev B, Sakai Y, Mimaki M, Okamoto N, Suzuki Y, Monden Y, Saito H, Tziperman B, Torio M, Akamine S, Takahashi N, Osaka H, Yamagata T, Nakamura K, Tsurusaki Y, Nakashima M, Miyake N, Shiina1 M, Ogata K, Matsumoto N.
    • Journal Title

      Eur J Hum Genet

      Volume: 23

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Periodic epileptiform discharges in children with advanced stages of progressive myoclonic epilepsy2015

    • Author(s)
      Isobe N, Sakai Y, Kira R, Sanefuji M, Ishizaki Y, Sakata A, Sasazuki M, Torio M, Akamine S, Torisu H, Hara T
    • Journal Title

      Clin EEG Neurosci

      Volume: 46

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Kawasaki disease-specific molecules in the sera are linked to microbe-associated molecular patterns in the biofilms2014

    • Author(s)
      Kusuda T, Nakashima Y, Murata K, Kanno S, Nishio H, Saito M, Tanaka T, Yamamura K, Sakai Y, Takada H, Miyamoto T, Mizuno Y, Ouchi K, Waki K, Hara T
    • Journal Title

      PLoS One

      Volume: 9

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome2014

    • Author(s)
      Sakai Y, Souzaki R, Yamamoto H, Matsushita Y, Nagata H, Ishizaki Y, Torisu H, Oda Y, Taguchi T, Shaw CA, Hara T
    • Journal Title

      BMC Med Genomics

      Volume: 7 Pages: 19-19

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome2014

    • Author(s)
      Sakai Y, Souzaki R, Yamamoto H, Matsushita Y, Nagata H, Oda Y, Taguchi T, Shaw CA, Hara T
    • Journal Title

      BMC Med Genomics

      Volume: 7

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Neuroendocrine phenotypes in a boy with 5q14 deletion syndrome implicate the regulatory roles of myocyte-specific enhancer factor 2C in the postnatal hypothalamus.2013

    • Author(s)
      Sakai, Y., Ohkubo, K., Matsushita, Y., Akamine, S., Ishizaki, Y., Torisu, H., Ihara, K., Sanefuji, M., Kim, M.S., Lee, K.U., Shaw, C.A., Lim, J., Nakabeppu, Y., and Hara, T.
    • Journal Title

      Eur J Med Genet

      Volume: 59 Issue: 9 Pages: 475-783

    • DOI

      10.1016/j.ejmg.2013.06.009

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report.2013

    • Author(s)
      Uike K, Matsushita Y, Sakai Y, Togao O, Nagao M, Ishizaki Y, Nagata H, Yamamura K, Torisu H, Hara T.
    • Journal Title

      BMC Research Notes

      Volume: 6 Issue: 1 Pages: 456-456

    • DOI

      10.1186/1756-0500-6-456

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Presentation] Hypothalamic dysfunction in 5q14 deletion syndrome2013

    • Author(s)
      Sakai Y, Ohkubo K, Matsushita Y, Hara T
    • Organizer
      Society for Neuroscience
    • Place of Presentation
      San Diego, USA
    • Related Report
      2013 Research-status Report
  • [Presentation] 自閉症発症に関与する分子シグナルの探索2013

    • Author(s)
      酒井康成
    • Organizer
      第55回日本小児神経学会学術集会
    • Place of Presentation
      大分
    • Related Report
      2013 Research-status Report
    • Invited
  • [Presentation] The network approach towards identifying the molecular pathogenesis of autism and related disorders

    • Author(s)
      酒井康成
    • Organizer
      第35回日本分子生物学会年会(精神のオミックス・ワークショップ)
    • Place of Presentation
      福岡
    • Related Report
      2012 Research-status Report
    • Invited
  • [Presentation] Proteomic approaches deciphering the molecular pathways for autism spectrum disorders

    • Author(s)
      Yasunari Sakai, Chad A Shaw, Zaina Al-Mohtaseb, Diana V Dugas, Toshiro Hara:
    • Organizer
      第54回日本小児神経学会総会(English Session)
    • Place of Presentation
      札幌
    • Related Report
      2012 Research-status Report
  • [Presentation] MEF2C遺伝子を含む染色体5q14.3領域の欠失を認めた重度精神遅滞の14歳男児例

    • Author(s)
      酒井康成,鳥巣浩幸,實藤雅文,山口結,石崎義人,鳥尾倫子,磯部菜摘,原寿郎
    • Organizer
      第54回日本小児神経学会総会
    • Place of Presentation
      札幌
    • Related Report
      2012 Research-status Report

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

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