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Christopher A. Powell

  1. Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy
    2014/11/26 by Robert Kopajtich, Thomas J. Nicholls, Thomas J. Nicholls +62 · 29 citations
    Biochemistry, Genetics and Molecular Biology · #Mitochondrial Function and Pathology #Metabolism and Genetic Disorders #ATP Synthase and ATPases Research
  2. TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies
    2015/07/17 by Christopher A. Powell, Christopher A. Powell, Robert Kopajtich +31 · 27 citations
    Biochemistry, Genetics and Molecular Biology · Medicine · #RNA modifications and cancer #Congenital Heart Disease Studies #Mitochondrial Function and Pathology
  3. Mutations in the mitochondrial cysteinyl-tRNA synthase gene, <i>CARS2,</i> lead to a severe epileptic encephalopathy and complex movement disorder
    2015/03/18 by Curtis R. Coughlin, Curtis R Coughlin, Gunter H Scharer +23 · 1 citation
    Biochemistry, Genetics and Molecular Biology · Energy · #Mitochondrial Function and Pathology #Metalloenzymes and iron-sulfur proteins #RNA and protein synthesis mechanisms