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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 ; もやもや病感受性遺伝子産物RNF213のRINGドメイン内もやもや病患者変異はユビキチンリガーゼ活性を低下させ、NFκB活性化およびアポトーシスをAAA+ドメイン依存的に促進する
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