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2011 Fiscal Year Final Research Report

Analysis of mRNA metabolisms and therapeutic interventions for defects in neuromuscular signal transduction

Research Project

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Project/Area Number 21390266
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Neurology
Research InstitutionNagoya University

Principal Investigator

OHNO Kinji  名古屋大学, 大学院・医学系研究科, 教授 (80397455)

Co-Investigator(Kenkyū-buntansha) MASUDA Akio  名古屋大学, 大学院・医学系研究科, 助教 (10343203)
ITO Mikako  名古屋大学, 大学院・医学系研究科, 助教 (60444402)
Project Period (FY) 2009 – 2011
Keywords先天性筋無力症候群 / スプライシング異常 / protein-anchoring therapy
Research Abstract

We previously reported a splicing mutation in exon P3A of CHRNA1. We here identified that hnRNP L binds to the mutant site and suppresses splicing of exon P3A. We also reported that intravenous and intramuscular administration of AAV-COLQ to Colq-/-mice improved motor functions, as well as electrophysiological, histochemical, and biochemical features.

  • Research Products

    (24 results)

All 2012 2011 2010 2009 Other

All Journal Article (11 results) (of which Peer Reviewed: 11 results) Presentation (9 results) Book (4 results)

  • [Journal Article] A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodes2012

    • Author(s)
      Yoshinaga H, Sakoda S, Good JM, Takahashi MP, Kubota T, Arikawa-Hirasawa E, Nakata T, OhnoK, Kitamura T, Kobayashi K, Ohtsuka Y
    • Journal Title

      J Neurol Sci

      Volume: 315 Pages: 15-19

    • Peer Reviewed
  • [Journal Article] CUGBP1 and MBNL1 preferentially bind to 3' UTRs and facilitate mRNA decay2012

    • Author(s)
      Masuda A, Andersen HS, Doktor TK, Okamoto T, Ito M, Andresen BS, Ohno K
    • Journal Title

      Scientific Reports

      Volume: 2 Pages: 209

    • Peer Reviewed
  • [Journal Article] Anti-MuSK autoantibodies block binding of collagen Q to MuSK2011

    • Author(s)
      Kawakami Y, Ito M, Hirayama M, Sahashi K, Ohkawara B, Masuda A, Nishida H, Mabuchi N, Engel A G, Ohno K
    • Journal Title

      Neurology

      Volume: 77 Pages: 1819-1826

    • Peer Reviewed
  • [Journal Article] Hyperuricemia cosegregating with osteogenesis imperfecta is associated with amutation in2011

    • Author(s)
      Kaneko H, Kitoh H, Matsuura T, Masuda A, Ito M, Mottes M, Rauch F, Ishiguro N, Ohno K
    • Journal Title

      GPATCH8

      Volume: 130 Pages: 671-683

    • Peer Reviewed
  • [Journal Article] Molecular hydrogen inhibits lip polysaccharide/interferon gamma-induced nitric oxide production through modulation of signal transduction in macrophages2011

    • Author(s)
      Itoh T, Hamada N, Terazawa R, Ito M, Ohno K, Ichihara M, Nozawa Y, Ito M
    • Journal Title

      Biochem Biophys Res Commun

      Volume: 411 Pages: 143-149

    • Peer Reviewed
  • [Journal Article] AG-dependent 3'-splice sites are predisposed to aberrant splicing due to amutation at the first nucleotide of an exon2011

    • Author(s)
      Fu Y, Masuda A, Ito M, Shinmi J, Ohno K
    • Journal Title

      Nucleic Acids Research

      Volume: 39 Pages: 4396-4404

    • Peer Reviewed
  • [Journal Article] Myasthenic syndrome caused by plectinopathy2011

    • Author(s)
      Selcen D, Juel VC, Hobson-Webb LD, Smith EC, Stickler DE, Bite AV, Ohno K, Engel AG
    • Journal Title

      Neurology

      Volume: 76 Pages: 327-336

    • Peer Reviewed
  • [Journal Article] Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3Adue to an hnRNP H-disrupting mutation in congenital myasthenic syndrome2009

    • Author(s)
      Bian Y, Masuda A, Matsuura T, Ito M, Okushin K, Engel AG, Ohno K
    • Journal Title

      Hum Mol Genet

      Volume: 18 Pages: 1229-1237

    • Peer Reviewed
  • [Journal Article] Myasthenic syndrome due to defects in rapsyn : Clinical and molecular findings in 39 patients2009

    • Author(s)
      Milone M, Shen XM, Selcen D, Ohno K, Brengman J, Iannaccone ST, Harper CM, Engel AG
    • Journal Title

      Neurology

      Volume: 73 Pages: 228-235

    • Peer Reviewed
  • [Journal Article] Protein-anchoring strategy for delivering acetyl cholinesterase to the neuromuscular junction

    • Author(s)
      Ito M, Suzuki Y, Okada T, FukudomeT, Yoshimura T, Masuda A, Takeda S, Krejci E, Ohno K
    • Journal Title

      Mol Ther

      Volume: (in press)

    • Peer Reviewed
  • [Journal Article] Myotonic dystrophy type 2(DM2) is rare in the Japanese populatio

    • Author(s)
      Matsuura T, Minami N, Arahata H, Ohno K, Abe K, Hayashi YK, Nishino I
    • Journal Title

      J Hum Genet in press

    • Peer Reviewed
  • [Presentation] Anti-MuSK antibodies in myastheniagravis block binding of collagen Q toMuSK expressed at theneuromuscular junction2011

    • Author(s)
      Kawakami Y, Ito M, Hirayama M, Sahashi K, Ohkawara B, Masuda A, Hishida H, Mabuchi N, Engel AG
    • Organizer
      41st Annual Meeting, Society for Neuroscience
    • Place of Presentation
      Washington DC, USA
    • Year and Date
      2011-11-15
  • [Presentation] Protein-anchoring therapy for delivering acetylcholinesterase to theneuromuscular junction2011

    • Author(s)
      Ito M, Suzuki Y, Okada T, Fukudome T, Yoshimura T, Masuda A, Takeda S, Krejci E, Ohno K
    • Organizer
      4th International Congress of Myology
    • Place of Presentation
      Lille, France
    • Year and Date
      2011-05-09
  • [Presentation] Mutations at the C-terminal domain(CTD) of collagen Q(ColQ) causingacetylcholinesterase(AChE) deficiencyprevent anchoring of ColQ to theneuromuscular junction(NMJ)2010

    • Author(s)
      Sugiyama A, Ito M, Nakata T, Azuma Y, Masuda A, Okumura A, Komaki H, Ohno K
    • Organizer
      Mutations at the C-terminal domain(CTD) of collagen Q(ColQ) causingacetylcholinesterase(AChE) deficiencyprevent anchoring of ColQ to theneuromuscular junction(NMJ)
    • Place of Presentation
      San Diego, USA
    • Year and Date
      20101100
  • [Presentation] rAAV8-Mediated Protein-Anchoring Therapy for Targeting Collagen Q-Tailed Acetylcholinesterase to the Neuromuscular Junction2010

    • Author(s)
      Ito M, Suzuki Y, Okada T, FukudomeT, Yoshimura T, Masuda A, Takeda S, Krejci E, Ohno K
    • Organizer
      American Society of Gene & Cell Therapy 13th Annual Meeting, Washington DC
    • Place of Presentation
      USA
    • Year and Date
      20100500
  • [Presentation] Degeneracy of splicing cis-elements and tolerance to disease-causing mutations2009

    • Author(s)
      Ohno K
    • Organizer
      2nd GCOE International Symposium
    • Place of Presentation
      Nagoya, Japan
    • Year and Date
      20091100
  • [Presentation] A mutation on a nonfunctional exon P3A inCHRNA1 identified in a patient withcongenital myasthenic syndrome losesbinding affinity for a splicing-suppressinghn RNP L and gains binding affinity for asplicing-enhancing RNP LL2009

    • Author(s)
      Rahman MA, Masuda A, Ito M, Ohno K
    • Organizer
      2nd GCOE International Symposium
    • Place of Presentation
      Nagoya, Japan
    • Year and Date
      20091100
  • [Presentation] AG-independence of the 3'splice site determines tolerance to aberrant splicingdue to a mutation at the first nucleotide of an exon2009

    • Author(s)
      Fu Y, Masuda A, Ito M, Ohno K
    • Organizer
      2nd GCOE International Symposium
    • Place of Presentation
      Nagoya, Japan
    • Year and Date
      20091100
  • [Presentation] Protein anchoring therapy for endplateacetylcholinesterase deficiency2009

    • Author(s)
      Ohno K, Ito M, Suzuki Y, Okada T, Fukudome T, Yoshimura T, Takeda S, Krejci E
    • Organizer
      Eighth French-Japanese Workshop on Muscular Dystrophies
    • Place of Presentation
      Paris, France
    • Year and Date
      20090703-04
  • [Presentation] Molecular mechanisms and regulations of congenital neuromuscular transmission defects2009

    • Author(s)
      Ohno K
    • Organizer
      Universite Paris Descartes Seminaire
    • Place of Presentation
      Paris, France
    • Year and Date
      2009-07-06
  • [Book] Chapter 8 : Molecular defects of acetylcholine receptor subunits in congenital myasthenic syndromes. Pharmacology of Nicotinic Acetylcholine Receptors from the Basic and Therapeutic Perspectives2011

    • Author(s)
      Ohno K, Engel AG
    • Publisher
      Research Signpost, Kerala
  • [Book] RNA pathologies in neurological disorders. Neurochemical Mechanisms in Disease, Advances in Neurobiology2011

    • Author(s)
      Ohno K, Masuda A
    • Total Pages
      399-415
    • Publisher
      Springer, New York
  • [Book] Congenital Myasthenic Syndromes-Molecular Bases of Congenital Defects of Proteins at the NeuromuscularJunction- Myopathy

    • Author(s)
      Ohno K, Ito M, Engel AG
    • Publisher
      InTech, Rijeka(in press)
  • [Book] Congenital myasthenicsyndromes. Myasthenia gravis and myasthenic disorders 2nd ed. Ed. byEngel AG

    • Author(s)
      Engel AG, Shen X-M, Ohno K, Sine SM
    • Publisher
      Oxford University Press,New York(in press)

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Published: 2013-07-31  

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