Novel Insight into the Potential Pathogenicity of Mitochondrial Dysfunction Resulting from PLP1 Duplication Mutations in Patients with Pelizaeus–Merzbacher Disease

Ruoyu Duan,Liuju Li,Huifang Yan, Miao He,Kai Gao,Shijia Xing,Haoran Ji,Jianyong Wang,Binbin Cao,Dongxiao Li,Han Xie,Shiqun Zhao,Ye Wu,Yuwu Jiang,Jiangxi Xiao,Qiang Gu,Ming Li,Xiaolu Zheng,Liangyi Chen,Jingmin Wang

Neuroscience（2021）

引用 5|浏览19

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摘要

•More peripheral ER sheet structure in PLP1 duplication patients’ cells.•Abnormal mitochondria morphology in PLP1 duplication patients’ cells.•Reduced respiration level in PLP1 duplication patients’ cells.•A higher level of ER-mitochondria interface was found near the ER sheet.•Closer contact of ER and mitochondria can alter mitochondria-associated membranes.

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关键词

Pelizaeus-Merzbacher disease,PLP1 duplication,mitochondria,endoplasmic reticulum (ER),ER and mitochondria-associated membranes (MAMs)

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