Article
Distinct nuclear gene expression profiles in cells with mtDNA depletion and homoplasmic A3243G mutation.
Mutation research - 15 Oct 2005
Jahangir Tafrechi Roshan S, Svensson Peter J, Janssen George M C, Szuhai Karoly, Maassen J Antonie, Raap Anton K
Abstract excerpt
The pathobiochemical pathways determining the wide variability in phenotypic expression of mitochondrial DNA (mtDNA) mutations are not well understood. Most pathogenic mtDNA mutations induce a general defect in mitochondrial respiration and thereby ATP synthesis. Yet phenotypic expression of the different mtDNA mutations shows large variations that are difficult to reconcile with ATP depletion as sole pathogenic...
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