Research projects finished
Gene correction to treat mitochondrial associated diseases
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…
The use of iPS cells for the development of therapeutic strategies
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.
Generation of a human iPSC
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.
A study of the pathogenicity of a new gene
A study of the pathogenicity of mutations found in a new gene related to mitochondrial pathology.