Pathogenetic Stidies and Novel Enzyme Treatment using Fabry, Pompe and Tay-Sacks iPS cells
| Project/Area Number |
26461536
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Southen Tohoku Research Institute for Neuroscience |
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Principal Investigator |
Eto Yoshikatsu 一般財団法人脳神経疾患研究所, 先端医療研究センター, センター長 (50056909)
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| Co-Investigator(Kenkyū-buntansha) |
藤崎 美和 一般財団法人脳神経疾患研究所, 先端医療研究センター, その他 (50642641)
柳澤 比呂子 一般財団法人脳神経疾患研究所, 先端医療研究センター, 研究員 (60416659)
HOSSAIN ARIF 一般財団法人脳神経疾患研究所, 先端医療研究センター, 研究員 (40777893)
辻 嘉代子 一般財団法人脳神経疾患研究所, 先端医療研究センター, 研究員 (60584232)
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| Project Period (FY) |
2014-04-01 – 2017-03-31
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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2016: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2014: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | ライソゾーム病 / IPS 細胞 / Tay-Sacks 病 / Niemann-Pick病 / Fabry 病 / MLD / iPS cells / MS/MS / lysosomal disease / Tay-Sacks disease / Fabry sisease / Niemann-Pick disease / Pompe disease / Tay-Sacks病 / ポンぺ病 / iPS細胞 / 神経細胞 / Miglustat / 細胞治療 / GM2-ganglioside / Nestin / 電子顕微鏡 |
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| Outline of Final Research Achievements |
In order to elucidate the pathology of lysosomal disease, iPS cells of Fabry disease, Tay-Sacks disease, NPC were established using Sendai virus vector, and try to generate in neuron cells. Using clonal cells and iPs derived cells, we conducted the research on disease mechanism and their treatment. 1) Elucidation of pathological metabolism in iPS cells of Tay-Sacks disease - differentiation from iPS cells into nerve cells to investigate the synthesis system of Ganglioside GM2 and GM3. 2) Analysis of autophagy and its treatment in Fabry disease and NPC clonal cells:. Increased Leucine with high expression level of Spin 1 leads to decreased autophagic expression in NPC patient-derived cell lines. These findings indicate the possibility that leucine might contribute to the treatment of NPC and Spin 1 expression contributes to treatment of NPC.
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Report
(4 results)
Research Products
(52 results)
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[Journal Article] The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome.2017
Author(s)
Hossain MA, Yanagisawa H, Miyajima T, Wu C, Takamura A, Akiyama K, Itagaki R, Eto K, Iwamoto T, Yokoi T, Kurosawa K, Numabe H, Eto Y
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Journal Title
Mol Genet Metab.
Volume: 120(3)
Pages: 173-179
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] Prevalence of Fabry disease in dialysis patients: Japan Fabry disease screening study (J-FAST).2016
Author(s)
Saito O, Kusano E, Akimoto T, Asano Y, Kitagawa T, Suzuki K, Ishige N, Akiba T, Saito A, Ishimura E, Hattori M, Hishida A, Guili C, Maruyama H, Kobayashi M, Ohashi T, Matsuda I, ○Eto Y
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Journal Title
Clin Exp Nephrol.
Volume: 20(2)
Issue: 2
Pages: 284-93
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Identification of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions.2016
Author(s)
Higuchi T, Kobayashi M, Ogata J, Kaneshiro E, Shimada Y, Kobayashi H, Eto Y, Maeda S, Ohtake A, Ida H, Ohashi T.
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Journal Title
JIMD Rep.
Volume: 2016 Jun 3.
Related Report
Peer Reviewed / Open Access
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[Journal Article] Prevalence of Fabry disease in dialysis patients: Japan Fabry disease screening study (J-FAST).2016
Author(s)
Saito O, Kusano E, Akimoto T, Asano Y, Kitagawa T, Suzuki K, Ishige N, Akiba T, Saito A, Ishimura E, Hattori M, Hishida A, Guili C, Maruyama H, Kobayashi M, Ohashi T, Matsuda I, Eto Y.
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Journal Title
Clin Exp Nephrol.
Volume: 20(2):
Pages: 284-93
Related Report
Peer Reviewed / Open Access
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[Journal Article] The generation of induced pluripotent stem cells (iPSCs) from patients with infantile and late-onset types of Pompe disease and the effects of treatment with acid-α-glucosidase in Pompe's iPSCs.2014
Author(s)
1.Higuchi T, Kawagoe S, Otsu M, Shimada Y, Kobayashi H, Hirayama R, Eto K, Ida H, Ohashi T, Nakauchi H, Eto Y.
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Journal Title
Mol Genet Metab.
Volume: 112
Pages: 44-48
Related Report
Peer Reviewed / Open Access
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[Journal Article] Enzyme augmentation therapy enhances the therapeutic efficacy of bone marrow transplantation in mucopolysaccharidosis type II mice.2014
Author(s)
2.Akiyama K, Shimada Y, Higuchi T, Ohtsu M, Nakauchi H, Kobayashi H, Fukuda T, Ida H, Eto Y, Crawford BE, Brown JR, Ohashi T.
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Journal Title
Mol Genet Metab.
Volume: 111
Pages: 139-46
Related Report
Peer Reviewed / Open Access
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