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openAccessADCK2_ Vazquez_Fonseca_Art2019.pdf.jpg2019ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ DeficiencyVázquez-Fonseca, Luis; Schäefer, Jochen; Navas-Enamorado, Ignacio CSIC; Santos-Ocaña, Carlos CSIC ORCID ; Hernández-Camacho, Juan Diego; Guerra, Ignacio CSIC; Cascajo Almenara, M. V. CSIC ORCID; Sánchez-Cuesta, Ana CSIC ORCID; Horvath, Zoltan; Siendones, Emilio CSIC; Jou, Cristina; Casado, Mercedes; Gutierrez-Rios, Purificacion CSIC; Brea-Calvo, Gloria CSIC ORCID; López-Lluch, Guillermo CSIC ORCID CVN ; Fernández-Ayala, Daniel J. M.; Cortés-Rodríguez, Ana Belén CSIC ORCID; Rodríguez-Aguilera, Juan Carlos CSIC ORCID; Matté, Cristiane; Ribes, Antonia; Prieto-Soler, Sandra Y.; Dominguez-del-Toro, Eduardo; Francesco, Andrea Di; Aon, Miguel A.; Bernier, Michel; Salviati, Leonardo; Artuch, Rafael; Cabo, Rafael de; Jackson, Sandra; Navas, Plácido CSIC ORCIDartículo
closedAccessaccesoRestringido.pdf.jpg2012ADCK2, a novel protein involved in coenzyme Q10 synthesis pathwayVázquez-Fonseca, Luis; Santos-Ocaña, Carlos CSIC ORCID ; Jackson, Sandra; Navas, Plácido CSIC ORCIDpóster de congreso
openAccessCellular_Santos_PV_Art2021.pdf.jpg2021Cellular models for primary coq deficiency pathogenesis studySantos-Ocaña, Carlos CSIC ORCID ; Cascajo Almenara, M. V. CSIC ORCID; Alcázar-Fabra, María CSIC ORCID; Staiano, Carmine; López-Lluch, Guillermo CSIC ORCID CVN ; Brea-Calvo, Gloria CSIC ORCID; Navas, Plácido CSIC ORCIDartículo
closedAccessaccesoRestringido.pdf.jpg2012Characterization of COQ4 in the synthesis of coenzyme Q6 in S. cerevisiaeGarcía-Testón, Elena CSIC; Rodríguez-Hernández, Ángeles CSIC ORCID; Brea-Calvo, Gloria CSIC ORCID; Santos-Ocaña, Carlos CSIC ORCID ; Navas, Plácido CSIC ORCIDpóster de congreso
openAccess2022 Clin Genet 101-481.pdf.jpgMay-2022CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiativeLuque, Juan M. CSIC; Mendes, Ingrid; Gómez, Beatriz; Morte, Beatriz CSIC ORCID; Heredia, Miguel CSIC; Lopez Herreras, Enrique; Corrochano, Virginia; Bueren, Juan; Gallano, Pia; Artuch, Rafael; Fillat, Cristina; Pérez-Jurado, Luis A.; Montoliu, Lluís CSIC ORCID ; Carracedo, Angel; Millán, José M.; Webb, Susan M.; Palau, Francesc; CIBERER Network; Lapunzina, Pablo; Albiñana, Virginia CSIC; Arjona, Emilia CSIC ORCID ; Bernabéu, Carmelo CSIC ORCID ; Botella, Luisa María CSIC ORCID ; Pinto, Sheila CSIC; Rodríguez de Córdoba, Santiago ; Ruiz, Ángela; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID; Bravo-Gil, Nereida CSIC; González-del Pozo, María; Méndez-Vidal, Cristina CSIC ORCID; Arbones, Maria L. CSIC ORCID ; Caparrós-Martín, José Antonio; Cediel, Rafael CSIC; Contreras, Julio CSIC; Estañ, María Cristina CSIC; Guerrero-López, Rosa CSIC; Jiménez-Estrada, Juan Andrés; Manguan-García, Cristina CSIC; Murillo-Cuesta, Silvia CSIC ORCID; Palencia-Campos, Adrián; Perona Abellón, Rosario CSIC ORCID; Rivera-Barahona, Ana CSIC; Rodríguez de la Rosa, Lourdes; Ruiz-Pérez, Victor L. CSIC ORCID; Sastre, Leandro CSIC ORCID; Valencia, María CSIC; Varela-Nieto, Isabel CSIC ORCID ; Cervera, Javier; Cima, Sergio de; Gougeard, Nadine CSIC; Heredia, Miguel CSIC; Llácer, José Luis CSIC ORCID ; Marco-Marín, Clara CSIC ORCID; Marina, Alberto CSIC ORCID ; Mollá, Belén CSIC ORCID; Moreno-Estellés, Mireia CSIC; Pérez-Jiménez, Eva; Rubio, Vicente CSIC ORCID ; Sanz, Pascual CSIC ORCID ; Cortés-Rodríguez, Ana; Navas, Plácido CSIC ORCID; Sánchez Cuesta, Ana María; Santos-Ocaña, Carlos CSIC ORCID ; Fraga, Mario F. CSIC ORCID; Nieto, M. Ángela CSIC ORCID artículo de revisión
closedAccess20-Feb-2006Coenzyme Q is irreplaceable by demethoxy-coenzyme Q in plasma membrane of Caenorhabditis elegansArroyo, Antonio CSIC ORCID; Santos-Ocaña, Carlos CSIC ORCID ; Ruiz-Ferrer, Macarena CSIC; Padilla, Sergio; Gavilán, Angela; Rodríguez-Aguilera, Juan Carlos CSIC ORCID; Navas, Plácido CSIC ORCIDartículo
openAccessCoenzyme_Paredes_PV_Art2020.pdf.jpg2020Coenzyme Q10 Treatment Monitoring in Different Human Biological SamplesParedes-Fuentes, Abraham J.; Montero, Raquel; Codina, Anna; Jou, Cristina; Fernandez, Guerau; Maynou, Joan; Santos-Ocaña, Carlos CSIC ORCID ; Riera, Joan; Navas, Plácido CSIC ORCID; Drobnic, Franchek; Artuch, Rafaelartículo
openAccessQ6cerivisia.pdf.jpg1998Coenzyme Q6 and iron reduction are responsible for the extracellular ascorbate stabilization at the plasma membrane of Saccharomyces cerevisiaeSantos-Ocaña, Carlos CSIC ORCID ; Córdoba, Francisco; Crane, Frederick L.; Clarke, Catherine F.; Navas, Plácido CSIC ORCIDartículo
closedAccessaccesoRestringido.pdf.jpg2010CoQ biosynthesis regulation in yeast through a phosphorylation cycle of Coq7pMartín-Montalvo, Alejandro CSIC ORCID; González-Mariscal, Isabel; Ballesteros, Manuel CSIC ORCID; Padilla, Sergio; Navas, Plácido CSIC ORCID; Santos-Ocaña, Carlos CSIC ORCID comunicación de congreso
openAccessCOQ6 mutations.pdf.jpg2-May-2011COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafnessHeeringa, Saskia F.; Santos-Ocaña, Carlos CSIC ORCID ; Navas, Plácido CSIC ORCID; Hildebrandt, Friedhelmartículo
openAccessdemethoactivi.pdf.jpg2004Demethoxy-Q, an intermediate of coenzyme Q biosynthesis, fails to support respiration in Saccharomyces cerevisiae and lacks antioxidant activityPadilla, Sergio; Jonassen, Tanya; Jiménez-Hidalgo, María CSIC; Fernández-Ayala, Daniel J. M.; López-Lluch, Guillermo CSIC ORCID CVN ; Marbois, Beth; Navas, Plácido CSIC ORCID; Clarke, Catherine F.; Santos-Ocaña, Carlos CSIC ORCID artículo
openAccessDesign_Berenguel_Preprint2020.pdf.jpg2020Design of high-throughput screening of natural extracts to identify molecules bypassing primary coenzyme Q deficiency in Saccharomyces cerevisiaeBerenguel Hernández, Aida M.; Cruz, Mercedes de la; Alcázar-Fabra, María CSIC ORCID; Prieto-Rodríguez, Andrés; Sánchez-Cuesta, Ana CSIC ORCID; Martín, Jesús; Tormo, José R.; Rodríguez-Aguilera, Juan Carlos CSIC ORCID; Cortés-Rodríguez, Ana Belén CSIC ORCID; Navas, Plácido CSIC ORCID; Reyes, Fernando; Vicente, Francisca; Genilloud, Olga; Santos-Ocaña, Carlos CSIC ORCID artículo
openAccessEffectvanillicacid.pdf.jpg2014Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiencyDoimo, Mara; Trevisson, Eva; Santos-Ocaña, Carlos CSIC ORCID ; Hildebrandt, Friedhelm; Navas, Plácido CSIC ORCID; Salviati, Leonardoartículo
closedAccessaccesoRestringido.pdf.jpg1995Extracellular ascorbate stabilization as a result of transplasma electron transfer inSaccharomyces cerevisiaeSantos-Ocaña, Carlos CSIC ORCID ; Navas, Plácido CSIC ORCID; Crane, Frederick L.; Córdoba, Franciscoartículo
closedAccess18-May-2008Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesisCasarin, Alberto; Jiménez-Ortega, José Carlos CSIC; Trevisson, Eva; Pertegato, Vanessa; Doimo, Mara; Ferrero-Gómez, María Lara; Abbadi, Sara; Artuch, Rafael; Quinzii, Catarina; Hirano, Michio; Basso, Giuseppe; Santos-Ocaña, Carlos CSIC ORCID ; Navas, Plácido CSIC ORCID; Salviati, Leonardoartículo
openAccessgeneragene.pdf.jpg2017Generation, genome edition and characterization of iPSC lines from a patient with coenzyme Q10 deficiency harboring a heterozygous mutation in COQ4 geneRomero-Moya, Damià; Castaño, Julio; Santos-Ocaña, Carlos CSIC ORCID ; Navas, Plácido CSIC ORCID; Menéndez, Pabloartículo
closedAccessaccesoRestringido.pdf.jpg1998Genetic evidence for coenzyme Q requirement in plasma membrane electron transportSantos-Ocaña, Carlos CSIC ORCID ; Villalba, José M.; Córdoba, Francisco; Padilla, Sergio; Crane, Frederick L.; Clarke, Catherine F.; Navas, Plácido CSIC ORCIDartículo
openAccessGenetic_2009.pdf.jpgJun-2009Genetic evidence for the requirement of the endocytic pathway in the uptake of coenzyme Q6 in Saccharomyces cerevisiaePadilla, Sergio; Jiménez-Hidalgo, María CSIC; Martín-Montalvo, Alejandro CSIC ORCID; Clarke, Catherine F.; Navas, Plácido CSIC ORCID; Santos-Ocaña, Carlos CSIC ORCID artículo
openAccessgenepalsy.pdf.jpg2019Genetic or other causation should not change the clinical diagnosis of cerebral palsyMacLennan, Alastair H.; Lewis, Sara; Moreno-De-Luca, Andres; Fahey, Michael; Leventer, Richard J.; McIntyre, Sarah; Ben-Pazi, Hilla; Corbett, Mark; Wang, Xiaoyang; Baynam, Gareth; Fehlings, Darcy; Kurian, Manju A.; Zhu, Changlian; Himmelmann, Kate; Smithers-Sheedy, Hayley; Wilson, Yana; Santos-Ocaña, Carlos CSIC ORCID ; Eyk, Clare van; Badawi, Nadia; Wintle, Richard F.; Jacobsson, Bo; Amor, David J.; Mallard, Carina; Pérez-Jurado, Luis A.; Hallman, Mikko; Rosenbaum, Peter J.; Kruer, Michael C.; Gecz, Jozefartículo
closedAccessaccesoRestringido.pdf.jpg2017Genetic rescue of mitochondrial and skeletal muscle impairment in an induced pluripotent stem cells model of coenzyme Q10 deficiencyRomero-Moya, Damià; Santos-Ocaña, Carlos CSIC ORCID ; Castaño, Justo P.; Rodríguez-Gómez, José A. CSIC ORCID; González-Rodríguez, Patricia CSIC ORCID; Fernández-Ayala, Daniel J. M.; Cascajo Almenara, M. V. CSIC ORCID; Montero, Raquel; Yubero, Delia; López-Barneo, José CSIC ORCID; Muñoz-Cánoves, Pura; Artuch, Rafael; Navas, Plácido CSIC ORCID; Menéndez, Pabloartículo