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Molecular Genetics and Metabolism|November 12, 2017
New insights into the phenotype of FARS2 deficiencyElise Vantroys, Austin Larson, Marisa Friederich, et al.Human Mutation|November 12, 2014
Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)Arnaud V Vanlander, Björn Menten, Joél Smet, et al.Nucleic Acids Research|June 21, 2014
MPV17L2 is required for ribosome assembly in mitochondriaIlaria Dalla Rosa, Romina Durigon, Sarah F Pearce, et al.Nature Communications|February 18, 2022
A late-stage assembly checkpoint of the human mitochondrial ribosome large subunitPedro Rebelo-Guiomar, Simone Pellegrino, Kyle C Dent, et al.Neurobiology of Disease|April 29, 2020
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assemblyMichela Di Nottia, Maria Marchese, Daniela Verrigni, et al.Human Mutation|May 16, 2014
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathiesDaria Diodato, Laura Melchionda, Tobias B Haack, et al.Nature Medicine|September 26, 2018
Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivoPayam A Gammage, Carlo Viscomi, Marie-Lune Simard, et al.Journal of Medical Genetics|March 20, 2015
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorderCurtis R Coughlin, Gunter H Scharer, Marisa W Friederich, et al.Nature Communications|July 1, 2016
Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3Lindsey Van Haute, Sabine Dietmann, Laura Kremer, et al.Nucleic Acids Research|May 6, 2021
DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletionPedro Silva-Pinheiro, Carlos Pardo-Hernández, Aurelio Reyes, et al.Pageof 11