Molecular dysfunction associated with the human mitochondrial 3302A>G mutation in the MTTL1 (mt-tRNA(Leu(UUR))) gene

The gene encoding mt-tRNA(Leu(UUR)), MT-TL1, is a hotspot for pathogenic mtDNA mutations. Amongst the first to be described was the 3302A>G transition which resulted in a substantial accumulation in patient muscle of RNA19, an unprocessed RNA intermediate including mt-16S rRNA, mt-tRNA(Leu(UUR))...

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Detalhes bibliográficos
Main Authors: Maniura-Weber, Katharina, Helm, Mark, Engemann, Katrin, Eckertz, Sabrina, Möllers, Myriam, Schauen, Matthias, Hayrapetyan, Armine, von Kleist-Retzow, Jürgen-Christoph, Lightowlers, Robert N., Bindoff, Laurence A., Wiesner, Rudolf J.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2006
Assuntos:
Molecular Biology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1702489/
https://ncbi.nlm.nih.gov/pubmed/17130166
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkl727
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