Article
A novel mutation in human EMD gene and mitochondrial dysfunction in emerin knockdown cardiomyocytes.
Journal of cellular and molecular medicine - 1 Oct 2022
Du Zunhui, Zhu Tinfang, Lin Menglu, Bao Yangyang, Qiao Jing, Lv Gang, Xie Yinyin, Li Qihen, Quan Jinwei, Xu Cathy, Xie Yuan, Wang Lingjie, Yang Wenjie, Wang Shengyue, Wu Liqun, Yin Tong, Xie Yucai
Abstract excerpt
Emerin is an inner nuclear envelope protein encoded by the EMD gene, mutations in which cause Emery-Dreifuss muscular dystrophy type 1 (EDMD1). Cardiac involvement has become a major threat to patients with EDMD1; however, the cardiovascular phenotype spectrums of emerinopathy and the mechanisms by which emerin regulates cardiac pathophysiology remain unclear. Here, we identified a novel nonsense mutation...
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