Page 84 - CIBERER-2015-eng

Research Groups
Group U723
Programme: Mitochondrial and Neuromuscular Medicine Lead Researcher: Martín Casanueva, Miguel Ángel
Group members
STAFF MEMBERS: Blázquez Encinar, Alberto | Jiménez García, Sara.
ASSOCIATED MEMBERS: Atencia Cibreiro, María Gabriela | Delmiro Magdalena, Aitor | Dominguez González, Cristina | Esteban Pérez, Jesús | García Consuegra Galiana, Inés | García Redondo, Alberto | García Silva, María Teresa | Hoyo Gordillo, Pilar del | Juárez Rufián, Alexandra | Martínez Azorín, Francisco | Morán Bermejo, María Jesús | Rubio Muñoz, Juan Carlos | Rufián 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 bi- ochemical and genetic diagnosis. Identification of new disease-causing genes and novel mutations.
• Biochemical and molecular basis of mitochon- drial respiratory chain complex I and complex III deficiencies.
• AssessmentofOXPHOScomplexesassemblyby BN_PAGE and its clinical translation
• Neuromusculardiseasesresearchlines:Metabol- ic Exercise Intolerance: i) Patient’s registries, nat- ural 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 mitophagy) in cell models of mitochondrial dis- orders; ii) mitochondrial disturbances and auto- phagy pathway evaluation in a mouse model of graft vs host disease.
• Oxygen consumption as in vivo marker of mito- chondrial disorders.
• Identification and validation of biomarkers in mi- tochondrial disorders.
84 I Annual report 2015 I CIBERER