Research

Mitocure project 2018

Las enfermedades mitocondriales abarcan un amplio espectro de trastornos musculares y neurodegenerativos, crónicos y progresivos, causadas por mutaciones en el ADN nuclear…
Execution: 75%

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.
Execution: 100%

Creation of an animal model

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%