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Article

Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica.

Human molecular genetics - 1 Nov 2018

Maclean Andrew E, Kimonis Virginia E, Balk Janneke

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 (nucleotide binding protein-like), encoding an assembly factor of complex I, which are potentially pathogenic. To help...

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Identifiers

PMID: 29982452
DOI: 10.1093/hmg/ddy247
PMCID: PMC6196649

Genes

NUBPL

Provenance

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