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Functional study of Munc18 mutations associated with epilepsy

Research Project

Project/Area Number 22500353
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Neurophysiology and muscle physiology
Research InstitutionSaitama University

Principal Investigator

ANDO Keiko  埼玉大学, 脳科学融合研究センター, 特任准教授 (40221741)

Co-Investigator(Kenkyū-buntansha) NAKAI Junichi  埼玉大学, 脳科学融合研究センター, 教授 (80237198)
OHKURA Masamichi  埼玉大学, 脳科学融合研究センター, 准教授 (70369172)
Project Period (FY) 2010 – 2012
Project Status Completed (Fiscal Year 2012)
Budget Amount *help
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2012: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2011: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2010: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Keywordsニューロン / シナプス / 神経回路 / 線虫 / てんかん / Sec1/Munc18 / イメージング
Research Abstract

To elucidate the molecular mechanism of intractable epilepsy, we developed C. elegans models having Munc18-1 mutations associated with Ohtahara syndrome (OS) known as early infantile epileptic encephalopathy (EIEE). We found that the Munc18-1 mutations resulted in behavioral defects such as paralysis and epileptic-like convulsions, and abnormalities in synaptic transmission. We also developed the optical measurement system of neural function using in vivo imaging and optogenetics. These disease models and optical technique can contribute to the understanding of the molecular pathogenesis and drug discovery for epilepsy.

Report

(4 results)
  • 2012 Annual Research Report   Final Research Report ( PDF )
  • 2011 Annual Research Report
  • 2010 Annual Research Report
  • Research Products

    (43 results)

All 2013 2012 2011 2010 Other

All Journal Article (26 results) (of which Peer Reviewed: 24 results) Presentation (16 results) (of which Invited: 1 results) Remarks (1 results)

  • [Journal Article] Genetically encoded green fluorescent Ca2+ indicators with improved detectability for neuronal Ca2+ signals2012

    • Author(s)
      M. Ohkura, T. Sasaki. J. Sadakari, K. Gengyo-Ando, Y. Kagawa-Nagamura, C. Kobayashi, Y. Ikegaya, J. Nakai
    • Journal Title

      PLoS ONE

      Volume: 7 Issue: 12 Pages: 1-10

    • DOI

      10.1371/journal.pone.0051286

    • Related Report
      2012 Annual Research Report 2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] A Caenorhabditis elegansinsulin-like peptide, INS-17: its physiological function and expression pattern2012

    • Author(s)
      Matsunaga Y, Nakajima.K,Gengyo-Ando K, Mitani S, Iwasaki T, Kawano T
    • Journal Title

      Biosci Biotechnol Biochem

      Volume: 76(11) Pages: 2168-72

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Neuronally expressed Ras-family GTPase Di-Ras modulates synaptic activity in Caenorhabditis elegans2012

    • Author(s)
      Tada M, Gengyo-Ando K, Kobayashi T, Fukuyama M, Mitani S, Kontani K, Katada T
    • Journal Title

      Genes Cells

      Volume: 17(9) Issue: 9 Pages: 778-89

    • DOI

      10.1111/j.1365-2443.2012.01627.x

    • Related Report
      2012 Annual Research Report 2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Depletion of mboa-7, an enzyme that incorporates polyunsaturated fatty acids into phosphatidylinositol (PI), impairs PI 3-phosphate signaling in Caenorhabditis elegans2012

    • Author(s)
      Lee HC, Kubo T, Kono N, Kage-Nakadai E, Gengyo-Ando K, Mitani S, Inoue T, Arai H
    • Journal Title

      Genes Cells

      Volume: 17 Issue: 9 Pages: 748

    • DOI

      10.1111/j.1365-2443.2012.01624.x

    • Related Report
      2012 Annual Research Report 2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Physiological function, expression pattern, and transcriptional regulation of a Caenorhabditis elegans insulin-like peptide2012

    • Author(s)
      Matsunaga Y, Gengyo-Ando K, Mitani S, Iwasaki T, Kawano T
    • Journal Title

      INS-18. Biochem Biophys Res Commun

      Volume: 423(3) Pages: 478-83

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Identification of a novel ADAMTS9/GON-1 function for protein transport from the ER to the Golgi2012

    • Author(s)
      Yoshina S, Sakaki K, Yonezumi-Hayashi A, Gengyo-Ando K, Inoue H, Iino Y, Mitani S
    • Journal Title

      Mol Biol Cell

      Volume: 23(9) Issue: 9 Pages: 1728-41

    • DOI

      10.1091/mbc.e11-10-0857

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] GPI-anchor synthesis is indispensable for the germline development of the nematode Caenorhabditis elegans2012

    • Author(s)
      Murata D, Nomura KH, Dejima K, Mizuguchi S, Kawasaki N, Matsuishi-Nakajima Y, Ito S,Gengyo-Ando K, Kage-Nakadai E, Mitani S, Nomura K
    • Journal Title

      Mol Biol Cell

      Volume: 23(6) Issue: 6 Pages: 982-95

    • DOI

      10.1091/mbc.e10-10-0855

    • Related Report
      2012 Annual Research Report 2012 Final Research Report 2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Single/low-copy integration of transgenes in Caenorhabditis elegans using an ultraviolet trimethylpsoralen method2012

    • Author(s)
      Kage-Nakadai E, Kobuna H, Funatsu O, Otori M, Gengyo-Ando K, Yoshina S, Hori S, Mitani S
    • Journal Title

      BMC Biotechnol

      Volume: 12 Issue: 1 Pages: 1-1

    • DOI

      10.1186/1472-6750-12-1

    • Related Report
      2012 Annual Research Report 2012 Final Research Report 2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 香りの評価法の検討:バイオアッセイを用いた香り評価の試み2012

    • Author(s)
      中井淳一,永村ゆう子,大倉正道,清宮はるな,藤田孝,松永祐,長谷川登志夫,安藤恵子
    • Journal Title

      アロマリサーチ

      Volume: 13 Pages: 126-131

    • NAID

      40019340334

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] large-scale screening for targeted knockouts in the Caenorhabditis elegans genome.2012

    • Author(s)
      C. elegans Deletion Mutant Consortium
    • Journal Title

      G3 (Bethesda)

      Volume: 2 Issue: 11 Pages: 1415-25

    • DOI

      10.1534/g3.112.003830

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A Caenorhabditis elegans insulin-like peptide, INS-17: its physiological function and expression pattern.2012

    • Author(s)
      Matsunaga Y, Nakajima K, Gengyo-Ando K, Mitani S, Iwasaki T, Kawano T.
    • Journal Title

      Biosci Biotechnol Biochem

      Volume: 76 Pages: 2168-72

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Physiological function, expression pattern, and transcriptional regulation of a Caenorhabditis elegans insulin-like peptide, INS-18.2012

    • Author(s)
      Matsunaga Y, Gengyo-Ando K, Mitani S, Iwasaki T, Kawano T.
    • Journal Title

      Biochem Biophys Res Commun

      Volume: 423 Issue: 3 Pages: 478-83

    • DOI

      10.1016/j.bbrc.2012.05.145

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 香りの評価法の検討―バイオアッセイを用いた香り評価の試みー2012

    • Author(s)
      中井淳一, 永村ゆう子, 大倉正道, 清宮はるな, 藤田孝, 松永祐, 長谷川登志夫, 安藤恵子
    • Journal Title

      Aroma Research

      Volume: 50 Pages: 126-131

    • NAID

      40019340334

    • Related Report
      2012 Annual Research Report
  • [Journal Article] Ceramide glucosyltransferase of the nematode Caenorhabditis elegans is involved in oocyte formation and in early embryonic cell division2011

    • Author(s)
      Nomura KH, Murata D, Hayashi Y, DejimaK, Mizuguchi S, Kage-Nakadai E,Gengyo-Ando K, Mitani S, Hirabayashi Y, Ito M, Nomura K
    • Journal Title

      Glycobiology

      Volume: 21(6) Issue: 6 Pages: 834-48

    • DOI

      10.1093/glycob/cwr019

    • Related Report
      2012 Final Research Report 2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Multivesicular body formation requires OSBP-related proteins and cholesterol2010

    • Author(s)
      Kobuna, H., Inoue, T., et al(7名中2番目)
    • Journal Title

      PLoS Genetics

      Volume: 6 Issue: 8 Pages: e1001055-e1001055

    • DOI

      10.1371/journal.pgen.1001055

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] An Arf-like small G protein, ARL-8, promotes the axonal transport of presynapticcargoes by suppressing vesicle aggregation2010

    • Author(s)
      Klassen MP, Wu YE, Maeder CI, Nakae I, Cueva JG, Lehrman EK, Tada M,Gengyo-Ando K, Wang GJ, Goodman M, Mitani S, Kontani K, Katada T, Shen K
    • Journal Title

      Neuron

      Volume: 66(5) Issue: 5 Pages: 710-23

    • DOI

      10.1016/j.neuron.2010.04.033

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Two Golgi-resident3'-Phosphoadenosine5'-phosphosulfate transporters play distinct roles in heparansulfate modifications and embryonic and larval development in Caenorhabditis elegans2010

    • Author(s)
      Dejima K, Murata D, Mizuguchi S, Nomura KH, Izumikawa T, Kitagawa H, Gengyo-Ando K, Yoshina S, Ichimiya T, Nishihara S, Mitani S, Nomura K
    • Journal Title

      J Biol Chem

      Volume: 285 (32) Issue: 32 Pages: 24717-28

    • DOI

      10.1074/jbc.m109.088229

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] The arf-like GTPase Arl8 mediates delivery of endocytosed macromolecules to lysosomes in Caenorhabditis elegans2010

    • Author(s)
      Nakae I, Fujino T, Kobayashi T, Sasaki A, Kikko Y, Fukuyama M, Gengyo-Ando K, Mitani S, Kontani K, Katada T
    • Journal Title

      Mol Biol Cell

      Volume: 21(14) Issue: 14 Pages: 2434-42

    • DOI

      10.1091/mbc.e09-12-1010

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Protein phosphatase 2A cooperates with the autophagy-related kinase UNC-51 to regulate axon guidance in Caenorhabditis elegans2010

    • Author(s)
      Ogura K, Okada T, Mitani S,Gengyo-Ando K, Baillie DL, Kohara Y, Goshima Y
    • Journal Title

      Development

      Volume: 137(10) Issue: 10 Pages: 1657-67

    • DOI

      10.1242/dev.050708

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Two very long chain fatty acid acyl-CoA synthetase genes, acs-20 and acs-22, have roles in the cuticle surface barrier in Caenorhabditis elegans2010

    • Author(s)
      Kage-Nakadai, E., Kobuna, H., et al(7名中5番目)
    • Journal Title

      PLoS ONE

      Volume: 5 Issue: 1 Pages: e8857-e8857

    • DOI

      10.1371/journal.pone.0008857

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] モデル生物線虫から見た低分子量G蛋白質Rab2010

    • Author(s)
      安藤恵子
    • Journal Title

      細胞

      Volume: 42(3) Pages: 104-107

    • Related Report
      2012 Final Research Report
  • [Journal Article] Multivesicular body formation requires OSBP-related proteins and cholesterol.2010

    • Author(s)
      Kobuna H, Inoue T, Shibata M, Gengyo-Ando K, Yamamoto A, Mitani S, Arai H.
    • Journal Title

      PLoS Genet.

      Volume: 6(8)

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] An Arf-like small G protein, ARL-8, promotes the axonal transport of presynaptic cargoes by suppressing vesicle aggregation.2010

    • Author(s)
      Klassen MP, Wu YE, Maeder CI, Nakae I, Cueva JG, Lehrman EK, Tada M, Gengyo-Ando K, Wang GJ, Goodman M, Mitani S, Kontani K, Katada T, Shen K.
    • Journal Title

      Neuron

      Volume: 66(5) Pages: 710-723

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Two Golgi-resident 3'-Phosphoadenosine 5'-phosphosulfate transporters play distinct roles in heparan sulfate modifications and embryonic and larval development in Caenorhabditis elegans.2010

    • Author(s)
      Dejima K, Murata D, Mizuguchi S, Nomura KH, Izumikawa T, Kitagawa H, Gengyo-Ando K, Yoshina S, Ichimiya T, Nishihara S, Mitani S, Nomura K.
    • Journal Title

      J Biol Chem.

      Volume: 285(32) Pages: 24717-24728

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] The arf-like GTPase Arl8 mediates delivery of endocytosed macromolecules to lysosomes in Caenorhabditis elegans.2010

    • Author(s)
      Nakae I, Fujino T, Kobayashi T, Sasaki A, Kikko Y, Fukuyama M, Gengyo-Ando K, Mitani S, Kontani K, Katada T.
    • Journal Title

      Mol Biol Cell

      Volume: 21(14) Pages: 2434-2442

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Protein phosphatase 2A cooperates with the autophagy-related kinase UNC-51 to regulate axon guidance in Caenorhabditis elegans.2010

    • Author(s)
      Ogura K, Okada T, Mitani S, Gengyo-Ando K, Baillie DL, K ohara Y, Goshima Y.
    • Journal Title

      Development

      Volume: 137(10) Pages: 1657-1667

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Presentation] 疾患モデル動物の開発と応用2013

    • Author(s)
      安藤恵子
    • Organizer
      埼玉バイオ最終成果発表会
    • Place of Presentation
      埼玉(新都心ビジネス交流プラザ)
    • Related Report
      2012 Annual Research Report
  • [Presentation] モデル動物線虫を利用したゲノム創薬2012

    • Author(s)
      安藤恵子
    • Organizer
      埼玉バイオIII研究交流会(招待講演)
    • Place of Presentation
      埼玉
    • Year and Date
      2012-03-21
    • Related Report
      2012 Final Research Report
  • [Presentation] モデル動物線虫を利用したゲノム創薬2012

    • Author(s)
      安藤恵子
    • Organizer
      埼玉バイオIII 研究交流会バイオ創薬~生物進化を超えて~
    • Place of Presentation
      埼玉(埼玉大学)
    • Year and Date
      2012-03-21
    • Related Report
      2011 Annual Research Report
  • [Presentation] Nakai J Functional analysis of de novoMunc18-1 mutations in epilepsy using Caenorhabditis elegans as a model organism2012

    • Author(s)
      Osawa A, Gengyo-Ando K
    • Organizer
      RIKEN BSI RETREAT 2012
    • Place of Presentation
      軽井沢
    • Related Report
      2012 Final Research Report
  • [Presentation] Dynamic neuromuscular regulation in freely crawling C. elegans: multicellular Ca^<2+> imaging using GCaMPs2012

    • Author(s)
      Gengyo-Ando K, Usami A,Kagawa-Nagamura Y, Ohkura M, Ikegaya Y, Matsuki N, Nakai J
    • Organizer
      第35回神経 科学学会年会(招待講演)
    • Place of Presentation
      名古屋
    • Related Report
      2012 Final Research Report
  • [Presentation] Dynamic neuromuscular regulation in freely crawling C. elegans: multicellular Ca2+ imaging using G-CaMPs.2012

    • Author(s)
      Gengyo-Ando K, Usami A, Kagawa-Nagamura Y, Ohkura M, Ikegaya Y, Matsuki N & Nakai J
    • Organizer
      第35回日本神経科学学会
    • Place of Presentation
      名古屋(名古屋国際会議場)
    • Related Report
      2012 Annual Research Report
    • Invited
  • [Presentation] 改良型G-CaMPを用いた自由運動中の線虫神経筋活動のCa2+イメージング2012

    • Author(s)
      安藤恵子,宇佐美篤,永村ゆう子,大倉正道,池谷裕二,松木則夫,中井淳一
    • Organizer
      35回日本分子生物学会年会
    • Place of Presentation
      福岡(福岡国際会議場)
    • Related Report
      2012 Annual Research Report
  • [Presentation] Functional analysis of de novo Munc18-1 mutations in epilepsy using Caenorhabditis elegans as a model organism.2012

    • Author(s)
      Osawa A, Gengyo-Ando K, Nakai J
    • Organizer
      RIKEN BSI RETREAT 2012
    • Place of Presentation
      軽井沢(軽井沢プリンスホテル)
    • Related Report
      2012 Annual Research Report
  • [Presentation] Functional analysis of neuromuscular circuit using high-resolution in vivo Ca^<2+> imaging in C.elegans2011

    • Author(s)
      Gengyo-Ando, K., Usami, A., Kagawa-Nagamura, Y., Yoshida, Y., Matsuki, N., Ikegaya, Y., Nakai, J.
    • Organizer
      第34回日本分子生物学会年会,ワークショップ
    • Place of Presentation
      横浜(パシフィコ横浜)
    • Year and Date
      2011-12-13
    • Related Report
      2011 Annual Research Report
  • [Presentation] Dynamic neuromuscularregulation in freely crawling C. elegans2011

    • Author(s)
      Usami A., Gengyo-Ando K., Nagamura Y., Yoshida Y., Matsuki N., Ikegaya Y. and Nakai J
    • Organizer
      high-resolution and large-scale in vivo Ca^<2+> imaging,Neuro 2011
    • Place of Presentation
      横浜
    • Year and Date
      2011-09-16
    • Related Report
      2012 Final Research Report
  • [Presentation] High-resolution in vivo Ca^<2+> imaging of neuromuscular system in Caenorhabditis elegans2011

    • Author(s)
      Gengyo-Ando, K., Usami, A., Kagawa-Nagamura, Y., Yoshida, Y, Matsuki, N., Ikegaya, Y., Nakai, J.
    • Organizer
      18^<th> International C.elegans Meeting
    • Place of Presentation
      ロサンゼルスUSA(University of California)
    • Year and Date
      2011-06-24
    • Related Report
      2011 Annual Research Report
  • [Presentation] Functional analysis of neuromuscular circuit using high-resolution in vivo Ca^<2+> imaging in C.elegans2011

    • Author(s)
      Gengyo-Ando K, Usami A,Kagawa-Nagamura Y, Yoshida Y, Matsuki N, Ikegaya Y,Nakai J
    • Organizer
      第34回日本分子生物学会年会(招待講演)
    • Place of Presentation
      横浜
    • Related Report
      2012 Final Research Report
  • [Presentation] High-resolution in vivo Ca^<2+> imaging of neuromuscular system in Caenorhabditis elegans2011

    • Author(s)
      Gengyo-Ando K., Usami A.,Kagawa-Nagamura Y., Yoshida Y., Matsuki N., Ikegaya Y., and Nakai J
    • Organizer
      18th International C.elegans Meeting
    • Place of Presentation
      ロサンゼルス(アメリカ)
    • Related Report
      2012 Final Research Report
  • [Presentation] in vivo記録データから神経回路を考えるーマウス視覚野と線虫をめぐって2010

    • Author(s)
      宇佐美篤, 安藤惠子, 大倉正道, 池谷裕二, 中井淳一, 松木則夫
    • Organizer
      立命館大学理工学研究所シンポジウム「感覚器と神経回路のサイエンス」
    • Place of Presentation
      滋賀
    • Year and Date
      2010-09-17
    • Related Report
      2010 Annual Research Report
  • [Presentation] 新規蛍光Ca^<2+>センサーG-CaMP4を用いた生体Ca^<2+>の画像化2010

    • Author(s)
      宇佐美篤, 安藤恵子, 大倉正道, 池谷裕二, 中井淳一, 松木則夫
    • Organizer
      次世代を担う創薬・医療薬理シンポジウム2010
    • Place of Presentation
      京都
    • Year and Date
      2010-09-11
    • Related Report
      2010 Annual Research Report
  • [Presentation] 蛍光カルシウムセンサーG-CaMP4を用いたin vivoとin vitroイメージング2010

    • Author(s)
      宇佐美篤, 安藤惠子, 大倉正道, 松木則夫, 池谷裕二, 中井淳一
    • Organizer
      日本神経科学学会
    • Place of Presentation
      神戸
    • Year and Date
      2010-09-04
    • Related Report
      2010 Annual Research Report
  • [Remarks] 埼玉大学脳科学融合研究センター

    • URL

      http://subsi.saitama-u.ac.jp/

    • Related Report
      2012 Final Research Report

URL: 

Published: 2010-08-23   Modified: 2019-07-29  

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