Mucolipidosis ; Pathological analysis and development of therapy
| Project/Area Number |
21591322
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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 |
Pediatrics
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| Research Institution | Osaka University |
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Principal Investigator |
SAKAI Norio 大阪大学, 医学系・研究科, 准教授 (30314313)
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| Co-Investigator(Kenkyū-buntansha) |
TANIIKE Masako 大阪大学, 連合小児発達学研究科, 教授 (30263289)
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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 |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2011: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2010: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2009: ¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000)
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| Keywords | ムコリピドーシス / I-cell病 / G1cNAc-transphosphatase / リソソーム病 / 病態解析 / 治療実験 / G1cNAc-phosphotranspharase / ライソゾーム病 / ライソゾームのpH / GlcNac-phosphotranspherase / GlcNAc-transphosphatase |
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| Research Abstract |
Mucolipidosis is one of the lysosomal storage diseases that the transport of most of the lysosomal enzymes to the lysosome is affected, however the cellular pathology of the disease is not elucidated. And the treatment such as enzyme replacement therapy for some lysosomal diseases is not established. On this research we aimed to clarify the cellular pathology in the patient skin fibroblasts and found new pathology. We also analyzed the cellular effect of the mixed lysosomal enzymes which are extracted from the normal cells with NH4Cl, and the many cellular effects were proved.
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Report
(4 results)
Research Products
(57 results)
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[Journal Article] Retrospective review of Japanese sudden unexpected death in infancy : the importance of metabolic autopsy and expanded newborn screening2011
Author(s)
Yamamoto T, Tanaka H, Kobayashi H, Okamura K, Tanaka T, Emoto Y, Sugimoto K, Nakatome M, Sakai N, Kuroki H, Yamaguchi S, Matoba R.
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Journal Title
Mol Genet Metab
Volume: 102(4)
Pages: 399-406
Related Report
Peer Reviewed
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[Journal Article] Pathology of the first autopsy case diagnosed as mucolipidosis type IIIα/βsuggesting autophagic dysfunction2011
Author(s)
Kobayashi H, Takahashi-Fujigasaki J, Fukuda T, Sakurai K, Shimada Y, Nomura K, Ariga M, Ohashi T, Eto Y, Otomo T, Sakai N, Ida H.
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Journal Title
Mol Genet Metab
Volume: 102(2)
Pages: 170-5
Related Report
Peer Reviewed
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[Journal Article] Mucolipidosis II and III alpha/ beta : mutation analysis of 40 Japanese patients showed genotype-phenotype correlation2009
Author(s)
Otomo T, Muramatsu T, Yorifuji T, Okuyama T, Nakabayashi H, Fukao T, Ohura T, Yoshino M, Tanaka A, Okamoto N, Inui K, Ozono K, Sakai N.
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Journal Title
J Hum Genet
Volume: 54(3)
Pages: 145-151
NAID
Related Report
Peer Reviewed
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[Presentation] 全国遺伝子医療部門におけるホームページに関する実態調査報告2011
Author(s)
小巻正泰, 酒井規夫, 金川武司, 大友孝信, 濱田悠介, 國府力, 佐藤友紀, 吉津紀久子, 西田千夏子, 市村沙希, 野口眞三郎
Organizer
遺伝医学合同学術集会2011
Place of Presentation
京都
Year and Date
2011-06-17
Related Report
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[Presentation] ムコ多糖症II型に対する造血幹細胞移植の効果に関する多施設共同調査研究ムコ多糖症II型造血細胞移植研究グループ、Efficacy of Hematopoietic Stem Cell Transplantation(HSCT) on the Patients with Mucopolysaccharidosis Type II : Multicenter Study, Study Group of HSCT for MPS II2010
Author(s)
高倉広充, 矢部普正, 麦島秀雄, 加藤剛二, 鈴木信寛, 足立壮一, 小林良二, 大浦敏博, 田中あけみ, 奥山虎之, 田中藤樹, 鈴木康之, 酒井規夫, 大橋十也, 加藤俊一
Organizer
第32回日本造血細胞移植学会総会
Place of Presentation
浜松
Year and Date
2010-02-20
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