Biochemical and Functional Characterization of RNF213 (Mysterin) R4810K, a Susceptibility Mutation of Moyamoya Disease, in Angiogenesis In Vitro and In Vivo.

doi:10.1161/JAHA.115.002146

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Article

Biochemical and Functional Characterization of RNF213 (Mysterin) R4810K, a Susceptibility Mutation of Moyamoya Disease, in Angiogenesis In Vitro and In Vivo.

Journal of the American Heart Association - 30 Jun 2015

Kobayashi Hatasu, Matsuda Yoshiko, Hitomi Toshiaki, Okuda Hiroko, Shioi Hirotomo, Matsuda Tetsuya, Imai Hirohiko, Sone Masakatsu, Taura Daisuke, Harada Kouji H, Habu Toshiyuki, Takagi Yasushi, Miyamoto Susumu, Koizumi Akio

Abstract excerpt

BACKGROUND: P.R4810K of RNF213 (mysterin: rs112735431), which is an AAA(+) ATPase, is the susceptibility polymorphism for moyamoya disease (MMD) in East Asians. However, the role of RNF213 R4810K in the etiology of MMD is unknown. METHODS AND RESULTS: To clarify the role of RNF213 in known angiogenic pathways, RNF213 expression was analyzed in endothelial cells (ECs) treated with several angiogenic and...

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PMID: 26126547
DOI: 10.1161/JAHA.115.002146
PMCID: PMC4608092

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