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Most relevant scientific articles
• Yubero D, O Callaghan M, Montero R, Ormazabal A, Armstrong J, Espinos C, Rodríguez MA, Jou C, Castejon E, Aracil MA, Cascajo MV, Gavilan A, Briones P, Jiménez-Mallebrera C, Pineda M, Navas P, Artuch R . Association between coenzyme Q 10 and glucose transporter (GLUT1) deficiency . BMC Pediatr . 2014 Nov 8;14(1):284 .
• Doimo M, Trevisson E, Airik R, Bergdoll M, Santos-Ocaña C, Hildebrandt F, Navas P, Pierrel F, Salviati L . Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency . Biochim Biophys Acta . 2014 Jan;1842(1):1-6 . doi: 10 .1016/j .bbadis .2013 .10 .007 .
• Siendones E, SantaCruz-Calvo S, Martín-Montalvo A, Cascajo MV, Ariza J, López-Lluch G, Villalba JM, Acquaviva-Bourdain C, Roze E, Bernier M, de Cabo R, Navas P . Membrane-bound CYB5R3 is a com- mon effector of nutritional and oxidative stress response through FOXO3a and Nrf2 . Antioxid Redox Signal . 2014 Oct 20;21(12):1708-25 . doi: 10 .1089/ars .2013 .5479 .
• Buján N, Arias A, Montero R, García-Villoria J, Lissens W, Seneca S, Espinós C, Navas P, De Meirleir L, Artuch R, Briones P, Ribes A. Characterization of CoQ11 biosynthesis in fibroblasts of patients with primary and secondary CoQ11 deficiency. J Inherit Metab Dis. 2014 Jan;37(1):53-62.
• Nguyen TP, Casarin A, Desbats MA, Doimo M, Trevisson E, Santos-Ocaña C, Navas P, Clarke CF, Salviati L . Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis . Biochim Biophys Acta . 2014 Nov;1841(11):1628-38 . doi: 10 .1016/j .bbalip .2014 .08 .007 .
Highlights
Institution: Universidad Pablo de Olavide Contact: Universidad Pablo de Olavide · Ctra . de Utrera, km 1 . 41013 Sevilla Phone: (+34) 95 434 93 81 / 95 434 93 85 · E .mail: pnavas@upo .es · Website: http://www .cabd .es/
We have maintained the group’s activity with intense collaboratios with Rafael Artuch’s and Antonia Ribes’s groups in CEBERER, including collaboration with Leonardo Salviati (Padova), Sandra Jacson (Dresden), Iain Hargreaves (London) and Salvatore DiMauro (USA) . We have advanced in the basic knowledgement of coenzyme Q synthesis regulation and have developed the following points . 1 . We have shown a new version of our proposal for the consideration of ubiquinol as orfan medicament for primary deficiency in CoQ10 to the European Medicament Agency and we are developing a preclinical assay in mice showing deficiency in CoQ (ADCK2+/-) and a clinical assay in the San Juan de Dios Hospital in Barcelona, in cooperation with Rafael Artuch group . 2 . We are developing the project eRARE2 coordinated by Pablo Menéndez and the internal project ACCI 2012 with Rafael Garesse (IP, U717) and Belén Pérez (U746) in which iPSCs are produced and differentiated from fibroblasts showing deficiency in CoQ synthesis . 3 . In the ACCI 2014 call, we showed the proposal entitled “Study of the implication of the permeability transition pore in models of diseases secondarily affecting mitochondrial activity: putative use in diagnostic and therapy” with the participation of Jorgina Satrústegui (U743) (IP) and María Morán (U723) . 4 . We maintain the service of diagnostic of mitochondrial pathology and analysis of CoQ in muscle biopsies and/or primary fibroblasts of patients of public and private hospitals of Andalucía . 5 . We have characterized a patient with haploinsuficiency of CoQ4, a gene involved in CoQ synthesis (Salviati et al . 2012) and have participated in the characterization of the only patients described showing punctate mutations in COQ4 (Brea-Calvo et al 2015) . 6 . We have also phenotypicaly characterized a KO mouse for ADCK2 gene . This mouse was developed by our group in 2012 and it mimics a muscle-specific deficiency in CoQ without affecting neuronal function .
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