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S. Edvardson, A. Shaag, O. Kolesnikova, J. M. Gomori, I. Tarassov, T. Einbinder, A. Saada and O. Elpeleg, “Deleterious Mutation in the Mitochondrial Arginyl-Transfer RNA Synthetase Gene Is Associated with Pontocerebellar hypoplasia,” The American Journal of Human Genetics, Vol. 81, No. 4, 2007, pp. 857-862. doi:10.1086/521227

has been cited by the following article:

• TITLE: Mitochondrial Translation in Health and Disease

  AUTHORS: Claudia C. Ferreiro-Barros, Mario H. Barros

  KEYWORDS: Mitochondrial Diseases; Respiratory Chain

  JOURNAL NAME: Open Journal of Endocrine and Metabolic Diseases, Vol.3 No.2A, May 16, 2013

  ABSTRACT: Mitochondrial disorders have become the most common cause of inborn errors of metabolism. Impairments in mitochondrial protein synthesis are one of the causes of these diseases, which are clinically and genetically heterogeneous. The mitochondrial translation machinery decodes 13 polypeptides essential for the oxidative phosphorylation process. Mitochondria protein synthesis depends on the integrity of mitochondrial rRNAs and tRNAs genes, and at least one hundred of nuclear encoded products. Diseases caused by mutations in mitochondrial genes as well as in ribosomal proteins, translational factors, RNA modifying enzymes, and all other constituents of the translational machinery have been described in patients with combine respiratory chain deficiency, and are the object of this review.