Article citationsMore>>
B. Garcia-Diaz, M. H. Barros, S. Sanna-Cherchi, V. Emmanuele, H. O. Akman, C. C. Ferreiro-Barros, R. Horvath, S. Tadesse, N. El Gharaby, S. Dimauro, D. C. De Vivo, A. Shokr, M. Hirano and C. M. Quinzii, “Infantile Encephaloneuromyopathy and Defective Mitochondrial Translation Are Due to a Homozygous RMND1 Mutation,” The American Journal of Human Genetics, Vol. 91, No. 4, 2012, pp. 729-736.
doi:10.1016/j.ajhg.2012.08.019
has been cited by the following article:
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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.
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