Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly

An infant presented with fatal infantile lactic acidosis and cardiomyopathy, and was found to have profoundly decreased activity of respiratory chain complex I in muscle, heart and liver. Exome sequencing revealed compound heterozygous mutations in NDUFB10, which encodes an accessory subunit located...

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Bibliografski detalji
Izdano u:Hum Mol Genet
Glavni autori: Friederich, Marisa W., Erdogan, Alican J., Coughlin, Curtis R., Elos, Mihret T., Jiang, Hua, O’Rourke, Courtney P., Lovell, Mark A., Wartchow, Eric, Gowan, Katherine, Chatfield, Kathryn C., Chick, Wallace S., Spector, Elaine B., Van Hove, Johan L.K., Riemer, Jan
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2017
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Articles
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6251674/
https://ncbi.nlm.nih.gov/pubmed/28040730
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw431
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