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

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 angiogeni...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608092/
https://www.ncbi.nlm.nih.gov/pubmed/26126547
http://dx.doi.org/10.1161/JAHA.115.002146