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Research Groups
Group U717
Programme: Mitochondrial and Neuromuscular Medicine Lead Researcher: Garesse, Rafael
Group members
STAFF MEMBERS: Gallardo Pérez, María Esther.
ASSOCIATED MEMBERS: Bornstein Sánchez, Belén | Fernández Moreno, Miguel Ángel | Galera Monge, Tere-
sa | Zurita Díaz, Francisco
Main lines of research
• Identification and characterization of new pro- teins involved in the regulation of the OXPHOS system.
• Functional analysis by means of transmitochon- drial cybrids of mutations identified in the mito- chondrial genome associated with LHON and neurosensorial deafness.
• Molecular characterization of patients with in- tergenomic communication defects.
• Mitochondrial diseases with predominant phe- notypic expression in cardiac muscle: Molecular characterization and analysis by means of trans- mitochondrial cybrids of new mutations identified in the mitochondrial genome.
• Development of animal models of mitochondrial diseases in Drosophila melanogaster.
• Generation of iPS cells harboring mutations in structural and regulator genes of the OXPHOS function.
72 I Annual report 2015 I CIBERER
