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Most relevant scientific articles
Research Groups
cruZ-BermúdeZ a, ValleJo cg, Vicente-Blanco rJ, gal- lardo me, FernándeZ-moreno má, quintanilla m et al. enhanced tumorigenicitY BY mitochondrial dna mild mutations. oncotarget. 2015; 6(15):13628-43.
martíneZ-morentin l, martíneZ l, Piloto s, Yang h, schon ea, garesse r et al. cardiac deFiciencY oF sin- gle cYtochrome oxidase assemBlY Factor scox in- duces P53-dePendent aPoPtosis in a drosoPhila cardi- omYoPathY model. hum. mol. genet. 2015; 24(13):3608-22.
delgado-alVarado m, de la riVa P, JiméneZ-urBieta h, gago B, gaBilondo a et al. ParKinsonism, cogni- tiVe deFicit and BehaVioural disturBance caused BY a noVel mutation in the PolYmerase gamma gene. J neurol sci. 2015; 350(1-2):93-7.
cámara Y, carreño-gago l, martín ma, melià mJ, BláZqueZ a et al. seVere tK2 enZYme actiVitY deFicien- cY in Patients With mild Forms oF mYoPathY. neurolo- gY. 2015; 84(22):2286-8.
gonZáleZ-lóPeZ e, gallego-delgado m, guZZo-merello g, de haro-del moral FJ, coBo-marcos m, roBles c et al. Wild-tYPe transthYretin amYloidosis as a cause oF heart Failure With PreserVed eJection Fraction. eur. heart J. 2015; 36(38):2585-94.
Highlights
During 2015, the unit U717 has been funded by four research projects: one from ISCIII (PI13/00556), one from the CAM (S2010/BMD-2402), one from ACCI (CIBERER 14-03) and one from MINECO (BIO2013- 50346-EXP). The main aims of the CIBERER U717 unit have been focused on the study of different as- pects of the mitochondrial physiopathology. Among them: 1) Biochemical characterization of transmito- chondrial cybrids from patients with different mito- chondrial diseases (MD). 2) Molecular and functional characterization of nuclear and mtDNA mutations in patients with mitochondrial cardiomyopathies. 3) From a clinical translational point of view, several diagnosis platforms are being implemented. Among them, one for the diagnosis of the POLG gene (we are reference center for this type of disorders) and other for sarcomeric genes involved in cardiomyopathies. Likewise, in collaboration with other CIBERER units, we have participated in a) the development of a nor- malized method for the mtDNA quantification and b) the standardization of clinical diagnosis of human
mitochondrial respiratory chain defects. 4) Identifi- cation and characterization of new genes involved in the OXPHOS function. Up to now, we have identi- fied and characterized several new genes. Some of them have been identified using the CRISPR/CAS9 genomic edition tool. 5) Generation of induced pluri- potent stem cells (iPSC) like a model for the study of MD and like a therapeutical approximation. Until now, several iPSCs have been generated. Among them iPSCs from: a) controls, b) patients with Leigh syndrome caused by mutations in the mtDNA, c) pa- tients with plus-optic atrophy caused by mutations in OPA1, d) a patient with a mutation in POLG and e) a patient with a severe mitochondrial encephalopa- thy produced by mutations in the GFM1 gene. This research line and another whose main aim is the identification of new OXPHOS genes will be the main research lines of our group in the next years.
Institution: Universidad Autónoma de Madrid · Contact: Ctra. Colmenar Viejo, KM 15,500. 28049 Madrid Tel.: Labo: 91 497 54 52 / Fax: 91 585 44 01 / Tf. 914975452 · E.mail: [email protected]
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