Page 97 - CIBERER-2015-eng

Most relevant scientific articles
Research Groups
Brea-calVo g, haacK tB, Karall d, ohtaKe a, inVerniZ- Zi F, carroZZo r, et al. COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. Am J Hum Genet. 2015;96(2):309-17.
cascaJo mV, aBdelmohsen K, noh Jh, FernándeZ-aY- ala dJ, Willers im, Brea g, et al. RNA-binding proteins regulate cell respiration and coenzyme Q biosynthesis by post-transcriptional regulation of COQ7. RNA Biol. 2015:0.
desBats ma, Vetro a, limongelli i, lunardi g, casarin a, doimo m, et al. Primary coenzyme Q10 deficiency pre- senting as fatal neonatal multiorgan failure. Eur J Hum Genet. 2015;23(9):1254-8.
Highlights
The research group starts 2015 with the proyect
Molecular mechanisms related to the secondary defi- ciency of coenzime Q associated to defects in oxidative phosphorylation. This project has been granted by the Spanish Ministery of Economy and competitiv- ity, Carlos III insdtitute. This is a three years project in which the group will study the molecular mecha- nisms associated to the diseases related with coen- zyme Q deficiency.
On the other hand, the group continues during 2015 working on the project Therapy of the Syndrome of Coenzyme Q10, granted by the Andalusia Govern- ment into its excelence program. In this project the group is working in the study of different putative compouds able to be used in the therapy of human diseases associated with the coenzyme Q deficien- cy syndrome.
Our group is working in the central service of the university that offer the determination of coenzyme Q levels and the analysis of the deficiency of mito- chondrial activities to hospitals from the sanitary network in Andalucía and rest of Spain.
YuBero d, montero r, o’callaghan m, Pineda m, meaV- illa s, delgadillo V, et al. Coenzyme Q and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopol- ysaccharidosis Type III. JIMD Rep. 2015.
YuBero d, montero r, ramos m, neergheen V, naVas P, artuch r, et al. Determination of urinary coenzyme Q10 by HPLC with electrochemical detection: Refer- ence values for a paediatric population. Biofactors. 2015;41(6):424-30.
The scientific production of the group has been fruit- full having published several works in collaboration with other groups of the CIBERER or alone. These works are based on the study of different mutations related with the deficiency of coenzyme Q. We deep into the metabolic changes producing some prima- ry deficiencies que produce severe damages at the general level in the body.
IN 2015, the group has actively participated in the presentation of results related with the deficiency in coenzyme Q and the PI has organized the con- gress of the International Coenzyme Q10 associa- tion in Bolonia, Italia that contained section related with the deficiency of coenzyme Q and associated pathologies.
Institution: Universidad Pablo de Olavide · Contact: Centro Andaluz de Biología Molecular y Medicina Regenerativa. Avda. Américo Vespucio S/N. 41092 Sevilla · Tel.: 954 349 381/ 954 349 385
E.mail: [email protected] · Website: http://www.cabd.es/
CIBERER I Annual report 2015 I 97