Article
Novel Insight into the Potential Pathogenicity of Mitochondrial Dysfunction Resulting from PLP1 Duplication Mutations in Patients with Pelizaeus-Merzbacher Disease.
Neuroscience - 10 Nov 2021
Duan Ruoyu, Li Liuju, Yan Huifang, He Miao, Gao Kai, Xing Shijia, Ji Haoran, Wang Jianyong, Cao Binbin, Li Dongxiao, Xie Han, Zhao Shiqun, Wu Ye, Jiang Yuwu, Xiao Jiangxi, Gu Qiang, Li Ming, Zheng Xiaolu, Chen Liangyi, Wang Jingmin
Abstract excerpt
Among the hypomyelinating leukodystrophies, Pelizaeus-Merzbacher disease (PMD) is a representative disorder. The disease is caused by different types of PLP1 mutations, among which PLP1 duplication accounts for ∼70% of the mutations. Previous studies have shown that PLP1 duplications lead to PLP1 retention in the endoplasmic reticulum (ER); in parallel, recent studies have demonstrated that PLP1 duplication can...
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