Copy number variation analysis of chorea-acanthocytosis gene in psychiatric disorders
| Project/Area Number |
21591488
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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 |
Psychiatric science
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| Research Institution | Kagoshima University |
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Principal Investigator |
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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 |
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2011: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2010: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2009: ¥2,990,000 (Direct Cost: ¥2,300,000、Indirect Cost: ¥690,000)
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| Keywords | 有棘赤血球舞踏病 / VPS13A遺伝子 / chorein / コピー数変異(CNV) / 細胞骨格 / "multiple rare variants-common disease"仮説 / McLeod症候群 / XK遺伝子 |
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| Research Abstract |
We performed a comprehensive mutation screen of chorea-acanthocytosis(ChAc) gene and identified pathogenic copy number variation and a potentially functional variant in mood disorder subjects. The results of protein analysis of erythrocyte and cultured cell line highly expressing chorein suggest that chorein may interact with cytoskeletal proteins and disruption of these interaction may lead to ChAc or mood disorders.
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Report
(4 results)
Research Products
(26 results)
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[Journal Article] Novel pathogenic mutations and copy number variations in the VPS13A Gene in patients with chorea-acanthocytosis2011
Author(s)
Tomiyasu A, Nakamura M, Ichiba M, Ueno S, Saiki S, Morimoto M, Kobal J, Kageyama Y, Inui T, Wakabayashi K, Yamada T, Kanemori Y, Jung HH, Tanaka H, Orimo S, Afawi Z, Blatt I, Aasly J, Ujike H, Babovic-Vuksanovic D, Josephs KA, Tohge R, Rodrigues GR, Dupre
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Journal Title
Am. J. Med. Genet. B Neuropsychiatr. Genet.
Volume: 156
Pages: 620-631
Related Report
Peer Reviewed
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[Journal Article] Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations : A case report and phenotypic comparison with a previously reported case.2011
Author(s)
Hayashi T, Nakamura M, Ichiba M, Matsuda M, Kato M, Shiokawa N, Shimo H, Tomiyasu A, Mori S, Tomiyasu Y, Ishizuka T, Inamori Y, Okamoto Y, Umehara F, Arimura K, Nakabeppu Y, Sano A.
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Journal Title
Psychiatry Clin Neurosci
Volume: 65
Pages: 105-108
Related Report
Peer Reviewed
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[Journal Article] ATF3 plays a protective role against toxicity by N-terminal fragment of mutant huntingtin in stable PC12 cell line2009
Author(s)
Lianga Y, Jianga H, Ratovitskia T, Jied C, Nakamura M, Hirschhorne RR, Wanga X, Smith WW, Haif T, Poiriera MA, Ross CA
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Journal Title
Brain Res. 1286
Pages: 221-229
Related Report
Peer Reviewed
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