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Most relevant scientific articles
• Fernandez-Moreno M., Soto-Hermida A., Vazquez-Mosquera M.E., Cortes-Pereira E., Relano
S., Hermida-Gomez T. et al. Mitochondrial DNA haplogroups influence the risk of incident knee osteoarthritis in OAI and CHECK cohorts. A meta-analysis and functional study. Annals of the Rheumatic Diseases. 2016.
• Galera T., Zurita F., Gonzalez-Paramos C., Moreno-Izquierdo A., Fraga M.F., Fernandez A.F. et al. Generation of a human iPSC line from a patient with Leigh syndrome. Stem Cell Research. 2016;16(1):63-66.
• Zurita F., Galera T., Gonzalez-Paramos C., Moreno-Izquierdo A., Schneiderat P., Fraga M.F. et al. Generation of a human iPSC line from a patient with a defect of intergenomic communication. Stem Cell Research. 2016;16(1):120-123.
• Zurita-Diaz F., Galera-Monge T., Moreno-Izquierdo A., Fraga M.F., Ayuso C., Fernandez A.F. et al. Generation of a human iPSC line from a patient with a mitochondrial encephalopathy due to mutations in the GFM1 gene. Stem Cell Research. 2016;16(1):124-127.
• Galera-Monge T., Zurita-Diaz F., Moreno-Izquierdo A., Fraga M.F., Fernandez A.F., Ayuso C. et al. Generation of a human iPSC line from a patient with an optic atrophy ‘plus’ phenotype due to a mutation in the OPA1 gene. Stem Cell Research. 2016;16(3):673-676.
Hightlights
During 2016, our group has been focused on studying different aspects of the mitochondrial physiology. The main research lines are: 1) To search new genes involved in OXPHOS genes using the CRISPR/CAS9 genomic edition tool. 2) Generation of iPSC cells as a model to study mitochondrial disorders and as a tool of therapeutic approximation.
Our group has received funding in serveral competitive calls: 1) In the AES call of the ISCIII: The project PI15/00484 leaded by Dr. Gallardo (a permanent researcher hired by CIBER that recently has achieved a positive evaluation in the AES call 2016 from the ISCIII to be contracted as Miguel Servet I researcher). The proposal PI13/00556 leaded by Dr. Garesse and PI16/00789 leaded by Dr. Garesse (PI) and Dr. Fernández (co-PI); 2) From “Ministerio de Economía y Competitividad” the project BIO2013-50346-EXP leaded by Dr. Fernández and 3) ACCI call 2015 leaded by Dr. Plácido Navas.
From a translational point of view, the group participates in the implementation of several diagnostic platforms that include genes like POLG and sarcomeric genes for the diagnosis of cardiomyopathies (more than 30 genes).
In collaboration with other CIBERER units our group has been involved in a) the elaboration of a normalized method for mtDNA quantification and b) The development of a normalized method for the analysis of the activity of the mitochondrial respiratory chain complexes.
Finally, the group has participated in the generation of a guide: “Ethics in the research in rare diseases” and has an ongoing project in the “Mencia Fundation”. The aim of this proposal is to delve into the knowledge and therapy of the mitochondrial diseases caused by defects in the mitochondrial translation. This project is leaded by Dr. Gallardo and Dr. Garesse.
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