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leaD reSearcHer
Montoya Villarroya, Julio
Universidad de Zaragoza
Facultad de Veterinaria Miguel Servet, 117 50013 Zaragoza
(+34) 976 761 640 [email protected] group website
GROUP MEMBERS
Staff members: Emperador Ortiz, Sonia | López Gallardo, Ester
Associated members: Llobet Sese, Laura | López Pérez, Manuel José | Ruiz Pesini, Eduardo
Main lines of research
• Genetic and molecular diagnosis of mitochondrial disorders and study of the physiopathogenic mechanism of mutations. Rescue of the normal phenotype by transfection of the patient fibroblast wit the wild-type gene.
• Study of mtDNA population genetic variants conferring susceptibility to multifactorial diseases.
• Characterization of environmental or genetic factors interacting with the genetic pool in susceptibility
development.
• Search of drugs acting on the OXPHOS system.
• Human chronic fatigue and pain syndromes.
• Use of stem cell as a model for he study of physiopatologic mechanism of the new mutations in the
mitochondrial DNA.
• mtDNA variation and neurodegenerative diseases.
• Improvement of the model of cybrids for the study of pathological mutations.
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PROGRAMMES
Mitochondrial and Neuromuscular Medicine
