2011 Fiscal Year Final Research Report
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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| 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 |
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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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[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
Peer Reviewed
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