Article
Moyamoya disease patient mutations in the RING domain of RNF213 reduce its ubiquitin ligase activity and enhance NFκB activation and apoptosis in an AAA+ domain-dependent manner.
Biochemical and biophysical research communications - 7 May 2020
Takeda Midori, Tezuka Tohru, Kim Minsoo, Choi Jungmi, Oichi Yuki, Kobayashi Hatasu, Harada Kouji H, Mizushima Tsunehiro, Taketani Shigeru, Koizumi Akio, Youssefian Shohab
Abstract excerpt
Moyamoya disease (MMD) is a cerebrovascular disease characterized by progressive occlusion of the internal carotid arteries. Genetic studies originally identified RNF213 as an MMD susceptibility gene that encodes a large 591 kDa protein with a functional RING domain and dual AAA+ ATPase domains. As the functions of RNF213 and its relationship to MMD onset are unknown, we set out to characterize the ubiquitin...
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