Article

Pathogenic mutations in <i>NUBPL</i> affect complex I activity and cold tolerance in the yeast model <i>Yarrowia lipolytica</i>

2018-06-04

Abstract excerpt

Complex I deficiency is a common cause of mitochondrial disease, resulting from mutations in genes encoding structural subunits, assembly factors or defects in mitochondrial gene expression. Advances in genetic diagnostics and sequencing have led to identification of several variants in NUBPL, an assembly factor of complex I, which are potentially pathogenic. To help assign pathogenicity and learn more about the f...

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Literature Corpus work: 5e6b94b6-c4b7-5067-9357-d6bf57a89600
DOI: 10.1101/338517

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