Blar i Department of Clinical Medicine på forfatter "Eckertz, Sabrina"
-
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. (Peer reviewed; Journal article, 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, ...