Article
Mutation in ε-Sarcoglycan Induces a Myoclonus-Dystonia Syndrome-Like Movement Disorder in Mice.
Neuroscience bulletin - 1 Mar 2021
Li Jiao, Liu Yiqiong, Li Qin, Huang Xiaolin, Zhou Dingxi, Xu Hanjian, Zhao Feng, Mi Xiaoxiao, Wang Ruoxu, Jia Fan, Xu Fuqiang, Yang Jing, Liu Dong, Deng Xuliang, Zhang Yan
Abstract excerpt
Myoclonus dystonia syndrome (MDS) is an inherited movement disorder, and most MDS-related mutations have so far been found in the ε-sarcoglycan (SGCE) coding gene. By generating SGCE-knockout (KO) and human 237 C > T mutation knock-in (KI) mice, we showed here that both KO and KI mice exerted typical movement defects similar to those of MDS patients. SGCE promoted filopodia development in vitro and inhibited...
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