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leaD reSearcHer
Martí Seves, Ramón
Fundación Hospital Universitario Vall d’Hebron - Institut de Recerca (VHIR) Hospital Vall d’Hebron Passeig Vall d’Hebron, 119-129 08035 Barcelona
(+34) 934894054 [email protected] group website
GROUP MEMBERS
Staff members: Cámara Navarro, Yolanda | Pinós Figueras, Tomás
Contratados a cargo de proyecto: Blázquez Bermejo, Cora | Molina Granada, David
Associated members: Andreu Periz, Antonio Luis | Brull Cañagueral, Astrid | Carreño Gago, Lidia | García Arumí, Elena | Melía Grimal, María Jesús | Ortega González, Francisco Javier | Torres Torronteras, Javier
Main lines of research
• Mechanisms of pathogenicity of mtDNA structural gene mutations.
• Genetic and biochemical study of mitochondrial DNA depletion syndromes: MNGIE, depletion due to
TK2 or dGK deficiency and other. Implications in the control of the nucleotide pool.
• Therapeutic approaches for MNGIE and other mitochondrial DNA depletion syndromes.
• McArdle disease: study of pathomechanisms and potential therapeutic approaches.
• Characterization and study of the pathomechanisms involved in the limb-girdle muscular dystrophhy
caused by mutations in the TNPO3 gene (LGMD1F).
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PROGRAMMES
Mitochondrial and Neuromuscular Medicine
