Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle

The mitochondrial translation system is responsible for the synthesis of 13 proteins required for oxidative phosphorylation (OXPHOS), the major energy-generating process of our cells. Mitochondrial translation is controlled by various nuclear encoded proteins. In 27 patients with combined OXPHOS def...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Smits, Paulien, Antonicka, Hana, van Hasselt, Peter M, Weraarpachai, Woranontee, Haller, Wolfram, Schreurs, Marieke, Venselaar, Hanka, Rodenburg, Richard J, Smeitink, Jan A, van den Heuvel, Lambert P
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2011
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3062000/
https://ncbi.nlm.nih.gov/pubmed/21119709
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.208
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