Article
Catenin α 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin/β-catenin signaling.
The Journal of clinical investigation - 15 Mar 2021
Zhu Xianjun, Yang Mu, Zhao Peiquan, Li Shujin, Zhang Lin, Huang Lulin, Huang Yi, Fei Ping, Yang Yeming, Zhang Shanshan, Xu Huijuan, Yuan Ye, Zhang Xiang, Zhu Xiong, Ma Shi, Hao Fang, Sundaresan Periasamy, Zhu Weiquan, Yang Zhenglin
Abstract excerpt
Familial exudative vitreoretinopathy (FEVR) is a severe retinal vascular disease that causes blindness. FEVR has been linked to mutations in several genes associated with inactivation of the Norrin/β-catenin signaling pathway, but these account for only approximately 50% of cases. We report that mutations in α-catenin (CTNNA1) cause FEVR by overactivating the β-catenin pathway and disrupting cell adherens...
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