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RESEARCH GROUPS
Group U723
Programme: Mitochondrial and Neuromuscular Medicine
Lead Researcher: Martín Casanueva, Miguel A. Group Members
STAFF MEMBERS: Blázquez Encinar, Alberto | Jiménez García, Sara
ASSOCIATED MEMBERS: Atencia Cibreiro, María Gabriela | Delmiro Magdalena, Aitor | Domínguez Gonzá- lez, Cristina | Esteban Pérez, Jesús | García Consuegra Galiana, Inés | García Redondo, Alberto | García Silva, María Teresa | Hoyo Gordillo, Pilar Del | Martínez Azorín, Francisco | Moran Bermejo, María Jesús | Rubio Muñoz, Juan Carlos | Rufian Vázquez, Laura | Ugalde Bilbao, Cristina
Main lines of research
• Mitochondrial diseases and exercise intolerance: Development and standardization of biochemical and genetic/genomic methods to improve the biochemical and genetic diagnosis . Identification of new disease-causing genes and novel mutations .
• Biochemical and molecular basis of mitochondrial respiratory chain complex I and complex III defi- ciencies .
• Assessment of OXPHOS complexes assembly by BN_PAGE and its clinical translation
• Neuromuscular diseases research lines: Metabolic Exercise Intolerance: i) Patient’s registries, natural history and genotype-phenotype correlations of type V glycogenosis (GSDV- McArdle disease), ii) Amyotrophic Lateral Sclerosis: identifications of novel mutations, evaluation of pathophysiology of ALS using cell and animal models, and patient’s clinical trials .
• Mitochondrial dynamics and autophagy: i) Role of mitochondrial dynamics and autophagy (and mi- tophagy) in cell models of mitochondrial disorders; ii) mitochondrial disturbances and autophagy pathway evaluation in a mouse model of graft vs host disease .
• Oxygen consumption as in vivo marker of mitochondrial disorders . • Identification and validation of biomarkers in mitochondrial disorders .
108 CIBERER » Annual report 2014