FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

Complex I is the first and largest enzyme in the respiratory chain and is located in the inner mitochondrial membrane. Complex I deficiency is the most commonly reported mitochondrial disorder presenting in childhood, but the molecular basis of most cases remains elusive. We describe a patient with...

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Udgivet i:Hum Mol Genet
Main Authors: Fassone, Elisa, Duncan, Andrew J., Taanman, Jan-Willem, Pagnamenta, Alistair T., Sadowski, Michael I., Holand, Tatjana, Qasim, Waseem, Rutland, Paul, Calvo, Sarah E., Mootha, Vamsi K., Bitner-Glindzicz, Maria, Rahman, Shamima
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2010
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4560042/
https://ncbi.nlm.nih.gov/pubmed/20858599
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq414
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