Article
Gmppb-mutant mice exhibit dystroglycanopathy symptoms that are rescued with GSK3β inhibition or AAV-mediated GMPPB gene replacement.
Nature communications - 9 Apr 2026
Fu Ziwei, Wang Tongchao, Zhang Chenyang, Qi Tianyu, Chen Yanyan, Yang Ju, Yang Hua, Yan Bing, Gong Baoming, Lu Weiqiao, Luo Sushan, Liu Ying, Sun Lei, Jiang Hao, Chen Bo, Zhang Zhao, Liu Xiuping, Wang Yuxiang
Abstract excerpt
Mutations in GDP-mannose pyrophosphorylase B (GMPPB) cause dystroglycanopathy, a rare neuromuscular disorder characterized by α-dystroglycan hypoglycosylation, yet the pathogenic mechanisms and therapeutic options remain poorly defined. To dissect the molecular basis of dystroglycanopathy, we generate Gmppb knockout and knock-in (P32L and R287Q) mice. We show that homozygous Gmppb knockout and P32L mutant mice...
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