Molecular analysis and therapeutic investigation of SCA36
| Project/Area Number |
24591263
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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 |
Neurology
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| Research Institution | Gunma University (2013-2014)
Okayama University (2012) |
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Principal Investigator |
IKEDA Yoshio 群馬大学, 医学(系)研究科(研究院), 教授 (00282400)
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| Co-Investigator(Kenkyū-buntansha) |
KURATA Tomoko 岡山大学, 大学病院, 助教 (40598562)
MORIMOTO Nobutoshi 岡山大学, 大学病院, 助教 (60598556)
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| Project Period (FY) |
2012-04-01 – 2015-03-31
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| Project Status |
Completed (Fiscal Year 2014)
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| Budget Amount *help |
¥5,460,000 (Direct Cost: ¥4,200,000、Indirect Cost: ¥1,260,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2013: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2012: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
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| Keywords | 脊髄小脳変性症 / RNA gain-of-function / マイクロサテライトリピート / spinocerebellar ataxia / SCD / SCA36 / NOP56 / GGCCTGリピート / RNA foci / 分子病態 / 運動ニューロン疾患 / 筋萎縮性側索硬化症 / TDP-43 / FUS/TLS / 難聴 / オージオグラム |
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| Outline of Final Research Achievements |
Cerebellar ataxia, motor neuron involvement, and sensorineural hearing loss are found to be the characteristic clinical findings of genetic disease SCA36/Asidan. The RNA-FISH analysis using an SCA36/Asidan autopsy specimen, RNA foci were found in the nuclei of neurons from various parts of CNS as well as skeletal muscles. There is a large variety of appearance in size, shape, and distribution among RNA foci. Based on these findings, the molecular effect of SCA36 mutation might be involved in the RNA gain-of-function mechanism.
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Report
(4 results)
Research Products
(23 results)
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[Presentation] Clinical features and molecular pathogenesis of Asidan/ SCA36: A novel spinocerebellar ataxia with motor neuron involvement
Author(s)
Yoshio Ikeda, Yasuyuki Ohta, Wentao Liu, Hatasu Kobayashi, Miyuki Okamoto, Kazuhiro Takamatsu, Taisei Ota, Yasuhiro Manabe, Koichi Okamoto, Akio Koizumi, Koji Abe
Organizer
The American Academy of Neurology's 65th AAN Annual Meeting
Place of Presentation
San Diego, USA
Related Report
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