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

      Maniura-Weber, Katharina; Helm, Mark; Engemann, Katrin; Eckertz, Sabrina; Möllers, Myriam; Schauen, Matthias; Haryapetyan, Armine; Kleist-Retzow, Jürgen-Christoph von; Lightowlers, Robert N.; Bindoff, Laurence; Wiesner, Rudolf J. (Oxford University Press (OUP), 2006-11-27)
      The gene encoding mt-tRNALeu(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, ...
      Journal article