2012 Fiscal Year Final Research Report
Functional study of Munc18 mutations associated with epilepsy
| Project/Area Number |
22500353
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Neurophysiology and muscle physiology
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| Research Institution | Saitama University |
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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)
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| 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)
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| Project Period (FY) |
2010 – 2012
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| Keywords | ニューロン / シナプス / 神経回路 / 線虫 |
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| 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.
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[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
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Journal Title
Mol Biol Cell
Volume: 23(6)
Pages: 982-95
DOI
Peer Reviewed
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[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
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Journal Title
Glycobiology
Volume: 21(6)
Pages: 834-48
DOI
Peer Reviewed
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[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
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Journal Title
Neuron
Volume: 66(5)
Pages: 710-23
DOI
Peer Reviewed
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[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
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Journal Title
J Biol Chem
Volume: 285 (32)
Pages: 24717-28
DOI
Peer Reviewed
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