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Translation of MT-ATP6 pathogenic variants reveals distinct regulatory consequences from the co-translational quality control of mitochondrial protein synthesis

2021-08-31

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Pathogenic variants that disrupt human mitochondrial protein synthesis are associated with a clinically heterogenous group of diseases. Despite an impairment in oxidative phosphorylation being a common phenotype, the underlying molecular pathogenesis is more complex than simply a bioenergetic deficiency. Currently, we have limited mechanistic understanding on the scope by which a primary defect in mitochondrial pr...

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Literature Corpus work: ea52da9a-950f-5b14-a78f-2b4296c50909
DOI: 10.1101/2021.08.30.458165

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Translation of <i>MT-ATP6</i> pathogenic variants reveals distinct regulatory consequences from the co-translational quality control of mitochondrial protein synthesis

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