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RESEARCH GROUPS
Group U746
Programme: Inherited Metabolic Medicine
Lead Researcher: Pérez González, Belén Group Members
STAFF MEMBERS: Ecay Crespo, María Jesús | Leal Pérez, Fátima | Navarrete López de Soria, Rosa
ASSOCIATED MEMBERS: Alcaide Alonso, Patricia | Belanguer Quintana, Amaya | Castro Reguera, Marga- rita | Ferrer López, Isaac | Gallego Villar, Lorena | Gámez Abascal, Alejandra | García Muñoz, María José | Martínez-Pardo Casanova, Mercedes | Medrano Rodríguez, Celia | Merinero Cortes, Begoña | Oyarzaval Sanz, Alfonso | Pérez-Cerda Silvestre, Celia | Richard Rodríguez, Eva Maria | Rodríguez Pombo, Pilar | Ruiz Desviat, Lourdes | Ruiz Sala, Pedro | Yuste Checa, Patricia
Main lines of research
• Biochemical, genetic and proteomic analysis of glycosylation congenital disorders . • Application of next generation sequencing and metabolomic techniques for identification of genetic
basis of unsolved patients .
• Development of antisense and pharmacological chaperone therapies in neurometabolic disorders .
• Study of mitochondrial dysfunction and oxidative stress in meatabolic hereditary diseases . Antioxidant treatment .
• Molecular basis of cofactors involved in mitocondrial metabolism .
152 CIBERER » Annual report 2014
