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Most relevant scientific articles
• 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 mitochon- drial DNA depletion syndrome . Hum Mol Genet . 2014 May 1;23(9):2459-67 . doi: 10 .1093/hmg/ddt641 .
• torres-torronteras J, Viscomi c, cabrera-pérez r, cámara y, Di meo i, barquinero J, auriccHio a, pizzorno G, Hira- no m, zeViani m, martí r . Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleoti- de homeostasis in a murine model of MNGIE . Mol Ther . 2014 May;22(5):901-7 . doi: 10 .1038/mt .2014 .6 .
• noGales-GaDea G, santalla a, brull a, De luna n, lucía a, pinós t . The pathogenomics of McArdle disease- genes, enzymes, models, and therapeutic implications . J Inherit Metab Dis . 2015 Mar;38(2):221-30 . doi: 10 .1007/s10545-014-9743-2 .
• meseGuer s, martínez-zamora a, García-arumí e, anDreu al, armenGoD me . The ROS-sensitive microRNA-9/9* controls the expression of mitochondrial tRNA-modifying enzymes and is involved in the molecular mecha- nism of MELAS syndrome . Hum Mol Genet . 2015 Jan 1;24(1):167-84 . doi: 10 .1093/hmg/ddu427 .
• santalla a, noGales-GaDea G, ØrtenblaD n, brull a, De luna n, pinós t, lucía a . McArdle disease: a unique stu- dy model in sports medicine . Sports Med . 2014 Nov;44(11):1531-44 . doi: 10 .1007/s40279-014-0223-5 .
Highlights
Institution: Fundación Hospital Universitario Vall D´hebron - Institut De Recerca (VHIR) Contact: Vall d’Hebron Institut de Recerca (VHIR) · Pg Vall d’Hebron, 119 . 08035 Barcelona Phone: (+34) 93 489 40 54 · E .mail: ramon .marti@vhir .org Web: http://www .vhir .org/larecerca/grupsrecerca/ca_grups_equip .asp?area=4&grup=9&mh1=2&mh2=1& mh3=1&mv1=2&mv2=1&menu=3&Idioma=en
During 2014 we have advanced significantly in our research lines devoted to study therapeutic strategies for different forms of mitochondrial DNA (mtDNA) depletion and deletions syndromes (MDDS) . On the one hand, based on our results (Cámara et al, Hum Mol Genet 2014), we have proposed a new therapy for MDDS caused by changes in nucleotide metabolism based on the administration of nucleoside or by inhibiting their catabolism . Moreover, we demonstrated the feasibility of gene therapy for MNGIE using an adeno-associated vector (Torres-Torronteras et al, Mol Ther 2014), which improves the results obtained with another vector (Torres-Torronteras et al, Gene Ther 2011) in terms of biosafety and efficacy .
Also, in the field of MDDS, we are positioned as national experts and we are fostering collaboration with other CIBERER (723, 762, 727, 722, 714) groups . Our group is currently coordinating an international consortium for the implementation of a clinical trial using gene therapy for MNGIE, project proposal sent to H2020 (second stage in the topic New Therapies for rare diseases) using a vector for which we have recently obtained the orphan drug designation by the EMA (August 2014 EU / 3/14/1326) and the FDA (September, 2014, number 14-4410) .
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