Identification of a novel gene responsible for spinocerebellar ataxia and therapy for ataxia
Project/Area Number |
21591084
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Single-year Grants |
Section | 一般 |
Research Field |
Neurology
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Research Institution | Okayama University |
Principal Investigator |
IKEDA Yoshio 岡山大学, 岡山大学病院, 講師 (00282400)
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Co-Investigator(Kenkyū-buntansha) |
ABE Koji 岡山大学, 大学院・医歯薬学総合研究科, 教授 (20212540)
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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 |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2011: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2010: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2009: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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Keywords | 脊髄小脳変性症 / ポジショナルクローニング / spinocerebellar ataxia / SCD / Asidan / SCA36 / NOP56 / GGCCTGリピート / 連鎖解析 / 運動ニューロン疾患 / RNA gain-of-function / マイクロサテライトリピート / SCA31 / 小脳失調症 / 聴覚障害 / ポリグルタミン / SCA8 / トリプレットリピート / MBNL1 / GABA |
Research Abstract |
To reveal the molecular pathomechanism and identify a novel gene responsible for spinocerebellar ataxia, positional cloning of SCA families with unknown etiology was performed. A novel genetic defect causing characteristic clinical features with ataxia complicated by motor neuron involvement had been discovered from this study as a hexanucleotide GGCCTG repeat expansion in intron 1 of the NOP56 gene. The specific molecular effect of mutated transcripts might be related to RNA gain-of-function mechanism.
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Report
(4 results)
Research Products
(65 results)
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[Journal Article] Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement2011
Author(s)
Kobayashi H, Abe K, Matsuura T, Ikeda Y, Hitomi T, Akechi Y, Habu T, Liu W, Okuda H, Koizumi A
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Journal Title
Am J Hum Genet
Volume: 89
Pages: 121-30
NAID
Related Report
Peer Reviewed
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[Journal Article] Correlation of cerebral spinal fluid pH and HCO3(-) with disease progression in ALS2011
Author(s)
Morimoto N, Deguchi K, Sato K, Yunoki T, Deguchi S, Ohta Y, Kurata T, Takao Y, Ikeda Y, Matsuura T, Abe K
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Journal Title
J Neurol Sci
Volume: 307
Pages: 74-8
Related Report
Peer Reviewed
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[Journal Article] Comparisons of acoustic function in SCA31 and other forms of ataxias2011
Author(s)
Ikeda Y, Nagai M, Kurata T, Yamashita T, Ohta Y, Nagotani S, Deguchi K, Takehisa Y, Shiro Y, Matsuura T, Abe K
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Journal Title
Neurol Res
Volume: 33
Pages: 427-32
Related Report
Peer Reviewed
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[Journal Article] Comparisons of acoustic function in SCA31 and other forms of ataxias2011
Author(s)
Ikeda Y, Nagai M, Kurata T, Yamashita T, Ohta Y, Nagotani S, Deguchi K, Takehisa Y, Shiro Y, Matsuura T, Abe K
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Journal Title
Neurol Res
Volume: 33
Issue: 4
Pages: 427-732
DOI
Related Report
Peer Reviewed
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[Journal Article] Strong neurogenesis, angiogenesis, synaptogenesis, and antifibrosis of hepatocyte growth factor in rats brain after transient middle cerebral artery occlusion2011
Author(s)
Shang J, Deguchi K, Ohta Y, Liu N, Zhang X, Tian F, Yamashita T, Ikeda Y, Matsuura T, Funakoshi H, Kakamura T, Abe K
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Journal Title
J Neurosci Res
Volume: 89
Issue: 1
Pages: 86-95
DOI
Related Report
Peer Reviewed
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[Journal Article] PSP as Distinguished from CBD, MSA-P and PD by Clinical and Imaging Differences at an Early Stage2011
Author(s)
Kurata T, Kametaka S, Ohta Y, Morimoto N, Deguchi S, Deguchi K, Ikeda Y, Takao Y, Obta T, Manabe Y, Sato S, Abe K
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Journal Title
Internal Medicine
Volume: 50
Issue: 22
Pages: 2775-2781
DOI
NAID
ISSN
0918-2918, 1349-7235
Related Report
Peer Reviewed
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[Journal Article] Atorvastatin and pitavastatin improve cognitive function and reduce senile plaque and phosphorylated tau in aged APP mice2011
Author(s)
Kurata T, Miyazaki K, Kozuki M, Panin VL, Mormoto N, Ohta Y, Nagai M, Ikeda Y, Matsuura T, Abe K
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Journal Title
Brain Res
Volume: 1,371
Pages: 161-170
DOI
Related Report
Peer Reviewed
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[Journal Article] Correlation of cerebral spinal fluid pH and HCO3- with disease progression in ALS2011
Author(s)
Morimoto K, Nagai M, Obta Y, Miyazaki K, Kurata T, Morimoto M, Murakami T, Takehisa Y, Ikeda Y, Kamiya T, Abe K
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Journal Title
J Neurol Sci
Volume: 37
Issue: 1-2
Pages: 74-78
DOI
Related Report
Peer Reviewed
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[Journal Article] Prevalence of autosomal dominant cerebellar ataxia in Ao mori, the northernmost prefecture of Honshu, Japan2010
Author(s)
Yamamoto-Watanabe Y, Watanabe M, Hikichi M, Ikeda Y, Jackson M, Wakasaya Y, Matsubara E, Kawarabayashi T, Kannari K, Shoji M
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Journal Title
Intern Med
Volume: 49
Pages: 2409-2414
NAID
Related Report
Peer Reviewed
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[Journal Article] A Japanese ALS6 family with mutation R521C in the FUS/TLS gene : a clinical, pathological and genetic report2010
Author(s)
Yamamoto-Watanabe Y, Watanabe M, Okamoto K, Fujita Y, Jackson M, Ikeda M, Nakazato Y, Ikeda Y, Matsubara E, Kawarabayashi T, Shoji M
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Journal Title
J Neurol Sci
Volume: 296
Pages: 59-63
Related Report
Peer Reviewed
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[Journal Article] Prevalence of autosomal dominant cerebellar ataxia in Aomori, the northernmost prefecture of Honshu, Japan.2010
Author(s)
Yamamoto-Watanabe Y, Watanabe M, Hikichi M, Ikeda Y, Jackson M, Wakasaya Y, Matsubara E, Kawarabayashi T, Kannari K, Shoji M.
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Journal Title
Intern Med.
Volume: 49
Pages: 2409-2414
NAID
Related Report
Peer Reviewed
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[Journal Article] A Japanese ALS6 family with mutation R521C in the FUS/TLS gene : a clinical, pathological and genetic report.2010
Author(s)
Yamamoto-Watanabe Y, Watanabe M, Okamoto K, Fujita Y, Jackson M, Ikeda M, Nakazato Y, Ikeda Y, Matsubara E, Kawarabayashi T, Shoji M.
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Journal Title
J Neurol Sci.
Volume: 296
Pages: 59-63
Related Report
Peer Reviewed
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[Journal Article] In vivo imaging of autophagy in a mouse stroke model.2010
Author(s)
Tian F, Deguchi K, Yamashita T, Ohta Y, Morimoto N, Shang J, Zhang X, Liu N, Ikeda Y, Matsuura T, Abe K.
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Journal Title
Autophagy
Volume: 6
Pages: 1107-1114
NAID
Related Report
Peer Reviewed
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[Journal Article] Temporal and spatial differences of multiple protein expression in the ischemic penumbra after transient MCAO in rats.2010
Author(s)
Zhang X, Deguchi K, Yamashita T, Ohta Y, Shang J, Tian F, Liu N, Panin VL, Ikeda Y, Matsuura T, Abe K.
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Journal Title
Brain Res.
Volume: 1343
Pages: 143-152
Related Report
Peer Reviewed
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[Journal Article] Comparisons of acoustic function in SCA31 and other forms of ataxias.
Author(s)
Ikeda Y, Nagai M, Kurata T, Yamashita T, Ohta Y, Nagotani S, Deguchi K, Takehisa Y, Shiro Y, Matsuura T, Abe K.
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Journal Title
Neurol Res.
Volume: (In press)
Related Report
Peer Reviewed
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[Presentation] Temporal and spatial differences of multiple protein expression in the ischemic penumbra after transient MCAO in rats.2010
Author(s)
Zhang X, Deguchi K, Yamashita T, Ohta Y, Shang J, Tian F, Liu N, Panin VL, Ikeda Y, Matsuura T, Abe K
Organizer
The 1st World Forum on Cerebral Blood Flow Metabolism & Function
Place of Presentation
Kyoto
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