The growing incidence of neurodegenerative diseases represents a huge challenge, and their understanding requires multidisciplinary approaches. …
Execution: 
0%
Hepatoencephalopathy due to the combined deficiency of oxidative phosphorylation type 1 (COXPD1) is caused by mutations in the nuclear gene GFM1…
Execution: 
50%
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…
Execution: 
100%
Las enfermedades mitocondriales abarcan un amplio espectro de trastornos musculares y neurodegenerativos, crónicos y progresivos, causadas por mutaciones en el ADN nuclear…
Execution: 
75%
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.
Execution: 100%
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.
Execution: 100%
A study of the pathogenicity of mutations found in a new gene related to mitochondrial pathology.
Execution: 100%
Creation of a knockin mouse for a mutation in the GFM1 gene as a study model of hepatic encephalopathy caused by dysfunction of the mitochondrial elongation factor G1…
Execution: 75%
