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Most relevant scientific articles
• Torres-Torronteras J., Cabrera-Perez R., Barba I., Costa C., De Luna N., Andreu A.L. et al. Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy. Human Gene Therapy. 2016;27(9):656-667.
• Garcia-Consuegra I., Blazquez A., Rubio J.C., Arenas J., Ballester-Lopez A., Gonzalez-Quintana A. et al. Taking advantage of an old concept, “illegitimate transcription”, for a proposed novel method of genetic diagnosis of McArdle disease. Genetics in Medicine. 2016;18(11):1128-1135.
• Dalla Rosa I., Camara Y., Durigon R., Moss C.F., Vidoni S., Akman G. et al. MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria. PLoS Genetics. 2016;12(1).
• Fiuza-Luces C., Nogales-Gadea G., Garcia-Consuegra I., Pareja-Galeano H., Rufian-Vazquez L., Perez L.M. et al. Muscle Signaling in Exercise Intolerance: Insights from the McArdle Mouse Model. Medicine and Science in Sports and Exercise. 2016.
• Badia R., Angulo G., Riveira-Munoz E., Pujantell M., Puig T., Ramirez C. et al. Inhibition of herpes simplex virus type 1 by the CDK6 inhibitor PD-0332991 (palbociclib) through the control of SAMHD1. Journal of Antimicrobial Chemotherapy. 2016;71(2):387-394.
Hightlights
We have obtained orphan drug designation from the EMA for two potential treatments of glycogenosis type V, (McArdle disease), for valproate (EU/3/16/1734) and triheptanoin (EU/3/16/1710).
-We have issued a patent for the treatment of mtDNA depletion syndrome with nucleosides (70% VHIR; 30% CIBER). The negotiations with the company Meves Pharmaceuticals to sign a license option are ongoing. In addition, another patent managed by Columbia University (New York) for the treatment of TK2 deficiency with nucleosides, in which Ramon Martí has 20% of participation, has been recently licensed to Meves Pharmaceuticals too.
-We have been granted with a 3-year project (2017-2019), focused on combined oxidative phosphorylation deficiency 1 (COXPD1), due to mutations in the GFM1 gene encoding the mitochondrial elongation factor G1. The main aim of the project is the generation and characterization of a murine model of the disease. The project has been granted with funds from the Fundación Mencía and Fundació La Caixa and it is managed by the CIBER.
-The EUROMAC project, a European registry of McArdle disease and other muscle glycogenoses funded by CHAFEA and coordinated by this group, has been successfully closed (December 2016) with more than 250 registered patients. Funds for the continuity and extension of the EUROMAC registry have been obtained as indicated below.
-Tomàs Pinós, a member of our group contracted by the CIBER, has been granted with a project funded by the ISCIII (PI16/01492) whose main objectives are to deepen in the study of the murine model of McArdle disease and testing potential therapy approaches. The project includes as well funds for the maintenance of the EUROMAC registry. Therefore, CIBERER is sponsoring the maintenance of this European registry for at least 3 more years (2017–2019).
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