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

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 (nucle...

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Detalles Bibliográficos
Autores principales: Maclean, Andrew E, Kimonis, Virginia E, Balk, Janneke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6196649/
https://www.ncbi.nlm.nih.gov/pubmed/29982452
http://dx.doi.org/10.1093/hmg/ddy247

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6196649/
https://www.ncbi.nlm.nih.gov/pubmed/29982452
http://dx.doi.org/10.1093/hmg/ddy247

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