Elucidation of molecular pathogenesis and development of treatment for muscular dystrophy and neurodevelopmental disorder caused by abnormal glycosylation
Project/Area Number |
21689030
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Research Category |
Grant-in-Aid for Young Scientists (A)
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Allocation Type | Single-year Grants |
Research Field |
Pediatrics
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Research Institution | Kobe University |
Principal Investigator |
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Project Period (FY) |
2009 – 2011
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Project Status |
Completed (Fiscal Year 2011)
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Budget Amount *help |
¥27,300,000 (Direct Cost: ¥21,000,000、Indirect Cost: ¥6,300,000)
Fiscal Year 2011: ¥7,020,000 (Direct Cost: ¥5,400,000、Indirect Cost: ¥1,620,000)
Fiscal Year 2010: ¥9,620,000 (Direct Cost: ¥7,400,000、Indirect Cost: ¥2,220,000)
Fiscal Year 2009: ¥10,660,000 (Direct Cost: ¥8,200,000、Indirect Cost: ¥2,460,000)
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Keywords | 小児神経学 / 福山型筋ジス / 筋眼脳病 / 糖鎖 / 高次脳機能 / ゲノム / 遺伝子治療 |
Research Abstract |
The structure of the O-Man type glycan ofα-dystroglycan is still unknown in spite of our many efforts for mass spectrometry. We found that some known proteins involved in the O-Man type glycan synthesis are bound to one another and we are searching for other unknown binding molecules. We showed potential in vivo of the gene therapy by adeno-associaterd viral vector and the antisense therapy for the SVA insertion mutation as treatments ofα-DGpathy. We successfully made central nervous system-specific fukutin-deficient mice, and observed abnormality of the brain.
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Report
(4 results)
Research Products
(29 results)
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[Journal Article] Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing a non-laminin binding form ofα-dystroglycan2012
Author(s)
Kuga A, Kanagawa M, Sudo A, Chan YM, Tajiri M, Manya H, Kikkawa Y, Nomizu M, Kobayashi K, Endo T, Lu QL, Wada Y, Toda T
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Journal Title
J Biol Chem
Volume: 287
Pages: 9560-9567
Related Report
Peer Reviewed
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[Journal Article] Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy2011
Author(s)
Taniguchi-Ikeda M, Kobayashi K(equally contributed), Kanagawa M, Yu CC, Mori K, Oda T, Kuga A, Kurahashi H, Akman HO, Dimauro S, Kaji R, Yokota T, Takeda S, Toda T
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Journal Title
Nature
Volume: 478
Pages: 127-131
Related Report
Peer Reviewed
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[Journal Article] Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy2011
Author(s)
Taniguchi-Ikeda M, Kobayashi K, Kanagawa M, Yu CC, Mori K, Oda T, Kuga A, Kurahashi H, Akman HO, DiMauro S, Kaji R, Yokota T, Takeda S, Toda T
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Journal Title
Nature
Volume: 478
Issue: 7367
Pages: 127-131
DOI
Related Report
Peer Reviewed
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[Journal Article] Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy(FCMD) patient2009
Author(s)
Xiong H, Wang S, Kobayashi K, Jiang Y, Wang J, Chang X, Yuan Y, Liu J, Toda T, Fukuyama Y, Wu X
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Journal Title
Am J Med Genet
Volume: A149
Pages: 2403-2408
Related Report
Peer Reviewed
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