CMT2A-linked mitochondrial hyperfusion-driving mutant MFN2 perturbs ER-mitochondrial associations and Ca 2+ homeostasis.

Biology of the Cell(2022)

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摘要
This study provides significant insight that presence of the R364W-MFN2 mutation makes cells susceptible towards stress, thus negatively affecting cellular health which altogether might culminate in the form of the CMT neuropathy.
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关键词
CMT2A-linked MFN2 mutant,DRP1,ER-mitochondrial associations,mitochondrial hyperfusion
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