2012 Fiscal Year Final Research Report
Elucidation of pathological roles of mysterin in stenosis of the intracranial arteries using molecular ablation of Rnf213 in themouse
| Project/Area Number |
23659329
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Multi-year Fund |
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| Research Field |
Hygiene
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| Research Institution | Kyoto University |
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Principal Investigator |
KOIZUMI Akio 京都大学, 医学研究科, 教授 (50124574)
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| Co-Investigator(Renkei-kenkyūsha) |
HARADA Kouji 京都大学, 医学研究科, 准教授 (80452340)
HITOMI Toshiaki 京都大学, 医学研究科, 講師 (90405275)
IWASAWA Kokoro 東京大学, 生産技術研究所, 研究員 (30402796)
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| Project Period (FY) |
2011 – 2012
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| Keywords | もやもや病 / 動物モデル / mysterin / Akita mouse / 血管病変 |
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| Research Abstract |
Mysterin, of which function remains explored little, is a susceptibility gene for moyamoya disease, of which R4810K variant is the founder variant among Asian moyamoya patients. We investigated phenotypes of KO mouse for angiogenesis, immune function, endoplasmic (ER) stress responses. We foundthat diabetic phenotype in the F1 offsprings between KO mouse and Akita mice was progressed significantly slowly when compared with the progression in Akita mise. We thus concluded that mysterin is involved in protein degradation by ER-stress associated protein degradation system.
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Research Products
(32 results)
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[Journal Article] Combined linkage analysis and exome sequencing identifies novel genes for familial goiter2013
Author(s)
Yan JX, Takahashi T, Ohura T, Adachi A, Takahashi I, Ogawa E, Okuda H,Kobayashi H, Hitomi T, Liu WY, Harada KH, Koizumi A.
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Journal Title
J Hum Genet
Volume: (in press)
DOI
Peer Reviewed
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[Journal Article] Ablation of Rnf213 retards progression of diabetes in the Akita mouse2013
Author(s)
Kobayashi H, Yamazaki S, Takashima S, Liu W, Okuda H, Yan J, Fujii Y, Hitomi T, Harada KH, Habu T, Koizumi A
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Journal Title
Biochem Biophys Res Commun
Volume: 432(3)
Pages: 519-525
DOI
Peer Reviewed
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[Journal Article] P.R4810K, a polymorphism of RNF213, the susceptibility gene for moyamoya disease, is associated withblood pressure2013
Author(s)
Koizumi A, Kobayashi H, Liu W, Fujii Y, Senevirathna ST, Nanayakkara S, Okuda H, Hitomi T, Harada KH, Takenaka K, Watanabe T, Shimbo S
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Journal Title
Environ. Health Prev. Med
Volume: 18(2)
Pages: 121-129
DOI
Peer Reviewed
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[Journal Article] Cognitive and affective impairments of a novel SCA/MND crossroad mutation Asidan2012
Author(s)
Abe K, Ikeda Y, Kurata T, Ohta Y, Manabe Y, Okamoto M, Takamatsu K, Ohta T, Takao Y, Shiro Y, Shoji M, Kamiya T, Kobayashi H, Koizumi A.
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Journal Title
Eur J Neurol
Volume: 19(8)
Pages: 1070-1078
DOI
Peer Reviewed
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[Journal Article] Identification of RNF213as a Susceptibility Gene for Moyamoya Disease and Its Possible Role in Vascular Development2011
Author(s)
Liu W, Morito D, Takashima S, Mineharu Y, Kobayashi H, Hitomi T, Hashikata H, Matsuura N, Yamazaki S, Toyoda A, Kikuta K, Takagi Y, Harada KH, Fujiyama A, Herzig R, Krischek B, Zou L, Kim J, Kitakaze M, Miyamoto S, Nagata K, Hashimoto N, Koizumi A
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Journal Title
PLoS ONE
Volume: 6(7)
Pages: e22542
DOI
Peer Reviewed
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