Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
openAccess | | 19-ene-2021 | A unique arginine cluster in PolDIP2 enhances nucleotide binding and DNA synthesis by PrimPol | Kasho, Kazutoshi; Stojkovic, Gorazd; Velázquez-Ruiz, Cristina; Martínez-Jiménez, María I. CSIC ORCID ; Doimo, Mara; Laurent, Timothée; Berner, Andreas; Pérez-Rivera, Aldo E.; Jenninger, Luoise; Blanco, Luis CSIC ORCID ; Wanrooij, Sjoerd | artículo |
openAccess | | 2014 | Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency | Doimo, Mara; Trevisson, Eva; Santos-Ocaña, Carlos CSIC ORCID ; Hildebrandt, Friedhelm; Navas, Plácido CSIC ORCID; Salviati, Leonardo | artículo |
closedAccess | | 18-may-2008 | Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis | Casarin, 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, Leonardo | artículo |
closedAccess | | 24-ago-2009 | Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations | Trevisson, Eva; Burlina, Alberto; Doimo, Mara; Pertegato, Vanessa; Casarin, Alberto; Cesaro, Luca; Navas, Plácido CSIC ORCID; Basso, Giuseppe; Sartori, Geppo; Salviati, Leonardo | artículo |
openAccess | | 2012 | Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency | Salviati, Leonardo; Trevisson, Eva; Rodríguez-Hernández, Ángeles CSIC ORCID; Casarin, Alberto; Pertegato, Vanessa; Doimo, Mara; Sartori, Geppo; Artuch, Rafael; Quinzii, Catarina; DiMauro, Salvatore; Hirano, Michio; Santos-Ocaña, Carlos CSIC ORCID ; Navas, Plácido CSIC ORCID | artículo |
openAccess | | 2014 | Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis | Nguyen, Theresa P. T.; Casarin, Alberto; Desbats, María Andrea; Doimo, Mara; Trevisson, Eva; Santos-Ocaña, Carlos CSIC ORCID ; Navas, Plácido CSIC ORCID; Clarke, Catherine F.; Salviati, Leonardo | artículo |
openAccess | | mar-2018 | Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function | Vázquez-Fonseca, Luis; Doimo, Mara; Calderan, Cristina; Desbats, María Andrea; Acosta-López, Manuel J.; Cerqua, Cristina; Cassina, Matteo; Ashraf, Shazia; Hildebrandt, Friedhelm; Sartori, Geppo; Navas, Plácido CSIC ORCID; Trevisson, Eva; Salviati, Leonardo | artículo |
closedAccess | | 2015 | Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure | Desbats, María Andrea; Casarin, Alberto; Doimo, Mara; Rodríguez-Hernández, Ángeles CSIC ORCID; Trevisson, Eva; Navas, Plácido CSIC ORCID; Zuffardi, Orsetta; Salviati, Leonardo | artículo |
closedAccess | | 2016 | The COQ2 genotype predicts the severity of Coenzyme Q10 deficiency | Desbats, María Andrea; Doimo, Mara; Navas, Plácido CSIC ORCID; Salviati, Leonardo; Trevisson, Eva | artículo |