Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNA(Val) carrying the pathogenic C25U mutation

Phenotypic diversity associated with pathogenic mutations of the human mitochondrial genome (mtDNA) has often been explained by unequal segregation of the mutated and wild-type genomes (heteroplasmy). However, this simple hypothesis cannot explain the tissue specificity of disorders caused by homopl...

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Main Authors: Rorbach, Joanna, Yusoff, Abdul Aziz, Tuppen, Helen, Abg-Kamaludin, Dyg P., Chrzanowska-Lightowlers, Zofia M.A., Taylor, Robert W., Turnbull, Douglass M., McFarland, Robert, Lightowlers, Robert N.
פורמט: Artigo
שפה:Inglês
יצא לאור: Oxford University Press 2008
נושאים:
Molecular Biology
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC2396425/
https://ncbi.nlm.nih.gov/pubmed/18400783
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkn147
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