Mitochondria are unique organelles in the cell that play a critical role in energy production, among other functions. They are responsible for creating a vast majority of the energy…
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The use of iPS cells as a model for the study of mitochondrial encephalopathies caused by defects in mitochondrial translation: an experimental approach for the development of therapeutic strategies.
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Human iPSC line GFM1SV.25 was generated from fibroblasts of a child with a severe mitochondrial encephalopathy associated with mutations in the GFM1 gene, encoding the mitochondrial translation elongation factor G1.
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A study of the pathogenicity of mutations found in a new gene related to mitochondrial pathology.
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