Molecular dissection of LPR4, a molecule expressed at the neuromuscular junction
Project/Area Number |
25670164
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Research Category |
Grant-in-Aid for Challenging Exploratory Research
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Allocation Type | Single-year Grants |
Research Field |
Pathological medical chemistry
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Research Institution | Nagoya University |
Principal Investigator |
KINJI Ohno 名古屋大学, 医学(系)研究科(研究院), 教授 (80397455)
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Co-Investigator(Kenkyū-buntansha) |
OHKAWARA Bisei 名古屋大学, 高等研究院, 特任講師 (80589606)
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Project Period (FY) |
2013-04-01 – 2014-03-31
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Project Status |
Completed (Fiscal Year 2013)
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Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2013: ¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
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Keywords | 先天性筋無力症候群 / LRP4 / Wnt / MuSK |
Research Abstract |
LRP4 is essential for formation and maintenance of the acetylcholine receptor clusters. Mutations in LRP4 have been reported in bone and cartilage diseases representing syndactyly and hyperostosis. We have identified that LRP4 mutations also cause a congenital myasthenic syndrome. LRP4 mutations in bone and cartilage diseases are located in the central cavity of the third beta propeller domain of LRP4, and the central cavity is essential for suppression of Wnt beta-catenin signaling. On the other hand, LRP4 mutations in a congenital myasthenic syndrome are located at the periphery of the third beta propeller domain of LRP4, and the periphery is essential for activation of agrin/LRP4/MuSK signaling leading to clustering of the acetylcholine receptor.
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Report
(2 results)
Research Products
(18 results)
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[Journal Article] LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner2014
Author(s)
Ohkawara B, Cabrera-Serrano M, Nakata T, Milone M, Asai N, Ito K, Ito M, Masuda A, Ito Y, Engel AG, Ohno K
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Journal Title
Hum Mol Genet.
Volume: Apr 1;23(7)
Issue: 7
Pages: 1856-68
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Mutations in the C-Terminal Domain of ColQ in Endplate Acetylcholinesterase Deficiency Compromise ColQ-MuSK Interaction.2013
Author(s)
Nakata T, Ito M, Azuma Y, Otsuka K, Noguchi Y, Komaki H, Okumura A, Shiraishi K, Masuda A, Natsume J, Kojima S, Ohno K.
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Journal Title
Human Mutation
Volume: in press
Issue: 7
Pages: 997-1004
DOI
Related Report
Peer Reviewed
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[Journal Article] Gfpt1-myasthenia: Clinical, structural, and electrophysiologic heterogeneity2013
Author(s)
Selcen D, Shen XM, Milone M, Brengman J, Ohno K, Deymeer F, Finkel R, Rowin J, Engel AG.
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Journal Title
Neurology
Volume: 81
Issue: 4
Pages: 378-378
DOI
Related Report
Peer Reviewed
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[Journal Article] HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA.2013
Author(s)
Rahman, M. A., Masuda, A., Ohe, K., Ito, M. , Hutchinson, D. O., Mayeda, A., Engel, A. G. and Ohno, K.
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Journal Title
Sci. Rep.
Volume: 3
Issue: 1
Pages: 2931-2931
DOI
Related Report
Peer Reviewed
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[Journal Article] Exome sequencing of senescence-accelerated mice (SAM) reveals deleterious mutations in degenerative disease-causing genes.2013
Author(s)
Tanisawa K., Mikami E., Fuku N., Honda Y., Honda S., Ohsawa I., Ito M., Endo S., Ihara K., Ohno K., Kishimoto Y., Ishigami A., Maruyama N., Sawabe M., Iseki H., Okazaki Y., Hasegawa-Ishii S., Takei S., Shimada A., Hosokawa M., Mori M., Higuchi K., Takeda T., Higuchi M., Tanaka M.
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Journal Title
BMC Genomics.
Volume: 14(1):
Issue: 1
Pages: 248-248
DOI
Related Report
Peer Reviewed / Open Access
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[Presentation] Investigation of 11 patients with GFPT1-myasthenia reveals clinical, structural, and electrophysiologic heterogeneity2013
Author(s)
Selcen D, Shen X-M, Milone M, Brengman J, Ohno K, McQuillen M, Deymeer F, Finkel R, Rowin J, Engel AG
Organizer
65th American Academy of Neurology (Platform)
Place of Presentation
San Diego, USA
Related Report
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