Article
Molecular dysfunction associated with the human mitochondrial 3302A>G mutation in the MTTL1 (mt-tRNALeu(UUR)) gene.
Nucleic acids research - 1 Jan 2006
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
Abstract excerpt
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)) and MTND1. We have now been able to further assess the molecular aetiology associated with 3302A>G in...
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