ForewordData summaryMapListSearchCreditsCatalà

 

Neuromuscular and Mitochondrial Diseases Laboratory

principal investigator : Ramon Martí ramon.marti@vhir.org Department: Center: Vall d'Hebron Institut de Recerca Institution: Vall d'Hebron Institut de Recerca (VHIR) Members: 12 Research lines: McArdle disease, Mitochondrial diseases, Nucleotide and mitochondrial metabolism, Limb girdle Muscular dystrophy LGMD1F Areas:  Neurotransmission  Keywords: Mitochondrion, McArdle disease, mitochondrial DNA depletion, MNGIE, gene therapy, limb girdle muscular dystrophy 1F, LGMD1F. Publications: González-Vioque E, Torres-Torronteras J, Andreu AL, Martí R. Limited dCTP avaialability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy. PLoS Genet 2011; 7:e1002035.  Nogales-Gadea G, Pinós T, Lucia A, Arenas J, Camara Y, Brull A, Luna N, Martin MA, Garcia-Arumi E, Martí R, Andreu AL. Knock-in mice for the R50X mutation in the Pygm gene present with McArdle disease. Brain 2012;135:2048-57.  Cámara Y, González-Vioque E, Scarpelli M, Torres-Torronteras J, Caballero A, Hirano M, Martí R. Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome. Hum Mol Genet. 2014. [Epub ahead of print]. Group Web site