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Most relevant scientific articles
• moran m, Delmiro a, blazquez a, uGalDe c, arenas J, martin ma . Bulk autophagy, but not mitophagy, is increased in cellular model of mitochondrial disease . Biochim Biophys Acta - Molecular Basis of Disease . 2014;1842:1059 -1129
• castro-GaGo m, Dacruz-alVarez D, pintos-martínez e, beiras-iGlesias a, Delmiro a, arenas J, martín má, martínez-azorín F . Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion . Eur J Paediatr Neurol . 2014;18:796-800 .
• Dols-icarDo o, García-reDonDo a, roJas-García r, sáncHez-Valle r, noGuera a, Gómez-tortosa e, pastor p, HernánDez i, esteban-pérez J, suárez-calVet m, antón-aGuirre s, amer G, orteGa-cubero s, blesa r, Fortea J, alcolea D, capDeVila a, antonell a, llaDó a, muñoz-blanco Jl, mora Js, Galán-DáVila l, roDríGuez De riVera FJ, lleó a, clarimón J . Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia .Hum Mol Genet 2014;23:749-54
• toiVonen Jm, manzano r, oliVán s, zaraGoza p, García-reDonDo a, osta r . MicroRNA-206: a potential circulating biomarker candidate for amyotrophic lateral sclerosis . PLoS One 2014;9:e89065
• miGuel a. martin; aleJanDro lucía; Joaquín arenas; antoni l anDreu . Glycogen Storage Disease Type V . [Upda- ted 2014 Jun 26] . GenReviews [Internet] Avalailable from http://www .ncbi .nlm .nih .gov/books/NBK1344/ . Seattle (WA)(Estados Unidos de América): Pagon RA, Adam MP, Ardinger, et al, Editors . Seattle (WA), University of Washington .
Highlights
Institution: Servicio Madrileño de Salud Contact: Hospital Universitario 12 de Octubre . Centro de Actividades Ambulatorias . I+12 6a Planta Bloque D Pasillo 1 . . Av de Cordoba S/N 28041 Madrid · Phone: (+34) 91 779 27 85
At translational-clinical level we are working to be involved as Natiornal Rerfence Unit (CSUR) for mitochondrial and hereditary metabolic diseases (Dr . García-Silva) . This year the group has been very active in ALS and Fronto-Temporal Dementia (FTD) research line, identifying potential miRNAs as biomarkers, contributing remarkably to the characterization in Spain of the repeat expansion in the C9orf72 gene, and contributing on international cooperation to discover a novel gene associated with this disease, TUBA4A gene . As for mitochondrial disorders, we have studied the mechanisms of deregulation of the mitophagy/autophagy in cellular models derived from patients with different pathogenic mutations in different nuclear and mtDNA genes, and we have revealed some new mutations and correlations with paediatric phenotypes using exome sequencing (CHKB gen and megaconial congenital muscular dystrophy) . We are working in collaboration with U701-CIBERER on a ISCIII project aimed to improve the molecular characterization of patients with OXPHOS disorder by different methods including next generation sequencing . We collaborated internationally identifying patients with mutations in the glycogenin-1 gene, a recent novel muscle glycogenoses . We updated the clinical and genetic characteristics of type V glycogenosis (GSDV) or McArdle disease in the GeneReviews (Washington University) . We are leading a WP in an EAHC-EU project regarding European Registry of patients with McArdle disease (EUROMAC), which is intended to start its operability in early 2015 . We kept the alliance with Prof . A . Lucia, Univ Europea de Madrid in approaches related to physical exercise, i .e McArdle patients, in aging, and in a graft-versus-host-disease mouse model .
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