Sarah F. Pearce

Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3

Lindsey Van Haute, Sabine Dietmann, Laura S. Kremer et al. · Nature Communications · 2016 · 245 citations · Full text

Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

Robert Kopajtich, Thomas J. Nicholls, Joanna Rorbach et al. · The American Journal of Human Genetics · 2014 · 152 citations · Full text

MRM2 and MRM3 are involved in biogenesis of the large subunit of the mitochondrial ribosome

Joanna Rorbach, Pierre Boesch, Payam A. Gammage et al. · Molecular Biology of the Cell · 2014 · 123 citations · Full text

Mitophagy, Molecular Biology, Molecular Genetics +17

Maturation of selected human mitochondrial tRNAs requires deadenylation

Sarah F. Pearce, Joanna Rorbach, Lindsey Van Haute et al. · eLife · 2017 · 98 citations · Full text

TRNT1 deficiency: clinical, biochemical and molecular genetic features

Yehani Wedatilake, Rojeen Niazi, Elisa Fassone et al. · Orphanet Journal of Rare Diseases · 2016 · 75 citations · Full text