2008 Fiscal Year Final Research Report
The mechanism of the central nervous system degeneration on lysosomal storage diseases : abnormality of cell membrane and autophagy
| Project/Area Number |
18390299
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Tottori University |
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Principal Investigator |
NANBA Eiji Tottori University, 生命機能研究支援センター, 教授 (40237631)
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| Co-Investigator(Kenkyū-buntansha) |
HIGAKI Katumi 鳥取大学, 生命機能研究支援センター, 准教授 (90294321)
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| Project Period (FY) |
2006 – 2008
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| Keywords | 小児神経学 / 脂質 / 糖鎖 / シグナル伝達 / 神経変性 / オートファジー |
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| Research Abstract |
GM1-ガングリオシドーシスはライソゾーム酵素β-ガラクトシダーゼの遺伝的欠損によりおこるライソゾーム病で、小児期に進行性の中枢神経症状を発症する疾患である。本研究で、患者培養細胞およびモデルマウスを用いた解析により、神経細胞膜シグナル(神経栄養因子受容体シグナル)異常とオートファジー機能異常を明らかにし、神経変性との関連性を明らかにした。これらの成果は、本疾患の発症メカニズムのみならず分子標的治療に向けた新たな視点となる。
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[Journal Article] Ubiquitin-protease system impairment caused by a missense cardiac myosin-binding protein C mutation and associated with cardiac dysfunction in hypertrophic cardiomyopathy2008
Author(s)
Bahrudin U, Morisaki H, Morisaki T, Ninomiya H, Higaki K, Nanba E, Igawa O, Takashima S, Mizuta E, Miake J, Yamamoto Y, Shirayoshi Y, Kitakaze M, Carrier L, Hisatome I
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Journal Title
cardiomyopathy. J. Mol. Biol 384
Pages: 896-907
Peer Reviewed
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[Journal Article] A novel mutgation in the arylsulfatase A gene associated with adult-onset metachromatic leukodystrophy without clinical evidence of neuropathy2008
Author(s)
Suzuki C, Watanabe M, Tomiyama M, Sugimoto K, Nanba E, Jackson M, Kimura T, Seino Y, Wakasaya Y, Kawarabayashi T, Miki Y, Yamamoto-Watanabe Y, Shoji M
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Journal Title
Eur. Neurol. 60
Pages: 310-311
Peer Reviewed
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[Journal Article] Novel beta-galactosidase gene mutation p.W273R in a woman with mucopolysaccharidosis type IVB (Morquio B) and lack of response to in vitro chaperone treatment of her skin fibroblasts2008
Author(s)
Gucev ZS, Tasic V, Jancevska A, Zafirovski G, Kremensky I, Sinigerska I, Nanba E, Higaki K, Gucev F, Suzuki Y
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Journal Title
Am, J. Med. Gened 146A
Pages: 1736-1740
Peer Reviewed
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[Journal Article] Chemical chperone therapy : clinical effect in murine GM1-gangliosidosis2007
Author(s)
Suzuki Y, Ichinomiya S, Kurosawa M, Ohkubo M, Watanabe H, Iwasaki H, Matsuda J, Noguchi Y, Takimoto K, Itoh M, Tabe M, Iida M, Kubo T, Ogawa S, Nanba E, Higaki K, Ohno K, Brady RO
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Journal Title
Ann. Neurol 62
Pages: 671-675
Peer Reviewed
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[Presentation] Cell therapy for the brain involvment in lysosomal storage disease2006
Author(s)
Sawada T, Tanaka A, Seto T, Maeda M, Jikihara I, Yamaguchi E, Matsuda J, Nanba E, Yamano T
Organizer
The 10^<th> International Congress of Inborn Errors of Metabolis
Place of Presentation
(ICIEM), Chiba, Japan
Year and Date
20060912-17
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