Now showing items 2-2 of 2

    • Deficient methylation and formylation of mt-tRNA$^{Met}$ wobble cytosine in a patient carrying mutations in NSUN3 

      Van Haute, Lindsey; Dietmann, Sabine; Kremer, Laura; Hussain, Shobbir; Pearce, Sarah F.; Powell, Christopher A.; Rorbach, Joanna et al. (Nature Publishing Group, 2016-06-30)
      Epitranscriptome modifications are required for structure and function of RNA and defects in these pathways have been associated with human disease. Here we identify the RNA target for the previously uncharacterized ...