A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNA(Ser(UCN)) caused by T7512C and G7497A point mutations

We have studied the consequences of two homoplasmic, pathogenic point mutations (T7512C and G7497A) in the tRNA(Ser(UCN)) gene of mitochondrial (mt) DNA using osteosarcoma cybrids. We identified a severe reduction of tRNA(Ser(UCN)) to levels below 10% of controls for both mutations, resulting in a 4...

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Hauptverfasser: Möllers, Myriam, Maniura-Weber, Katharina, Kiseljakovic, Emina, Bust, Maria, Hayrapetyan, Armine, Jaksch, Michaela, Helm, Mark, Wiesner, Rudolf J., von Kleist-Retzow, Jürgen-Christoph
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2005
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1240115/
https://ncbi.nlm.nih.gov/pubmed/16199753
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gki876
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