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dc.contributor.authorManiura-Weber, Katharinaen_US
dc.contributor.authorHelm, Marken_US
dc.contributor.authorEngemann, Katrinen_US
dc.contributor.authorEckertz, Sabrinaen_US
dc.contributor.authorMöllers, Myriamen_US
dc.contributor.authorSchauen, Matthiasen_US
dc.contributor.authorHaryapetyan, Armineen_US
dc.contributor.authorKleist-Retzow, Jürgen-Christoph vonen_US
dc.contributor.authorLightowlers, Robert N.en_US
dc.contributor.authorBindoff, Laurenceen_US
dc.contributor.authorWiesner, Rudolf J.en_US
dc.PublishedNucleic Acids Research 2006, 34(22):6404-6415eng
dc.description.abstractThe 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, an unprocessed RNA intermediate including mt-16S rRNA, mt-tRNALeu(UUR) and MTND1. We have now been able to further assess the molecular aetiology associated with 3302A>G in transmitochondrial cybrids. Increased steady-state levels of RNA19 was confirmed, although not to the levels previously reported in muscle. This data was consistent with an increase in RNA19 stability. The mutation resulted in decreased mt-tRNALeu(UUR) levels, but its stability was unchanged, consistent with a defect in RNA19 processing responsible for low tRNA levels. A partial defect in aminoacylation was also identified, potentially caused by an alteration in tRNA structure. These deficiencies lead to a severe defect in respiration in the transmitochondrial cybrids, consistent with the profound mitochondrial disorder originally associated with this mutation.en_US
dc.publisherOxford University Press (OUP)eng
dc.rightsAttribution CC BY-NC 2.0 UKeng
dc.titleMolecular dysfunction associated with the human mitochondrial 3302A>G mutation in the MTTL1 (mt-tRNA Leu(UUR))) geneen_US
dc.typePeer reviewed
dc.typeJournal article
dc.rights.holderCopyright 2006 The Author(s)
dc.subject.nsiVDP::Medisinske Fag: 700en_US

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Attribution CC BY-NC 2.0 UK
Except where otherwise noted, this item's license is described as Attribution CC BY-NC 2.0 UK