Balanced CoQ(6) biosynthesis is required for lifespan and mitophagy in yeast

por González-Mariscal, Isabel, Martín-Montalvo, Aléjandro, Ojeda-González, Cristina, Rodríguez-Eguren, Adolfo, Gutiérrez-Ríos, Purificación, Navas, Plácido, Santos-Ocaña, Carlos
Publicado 2017

Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia

por Ching-López, Ana, Martinez-Gonzalez, Luis Javier, Arrabal, Luisa, Sáiz, Jorge, Gavilán, Ángela, Barbas, Coral, Lorente, Jose Antonio, Roldán, Susana, Sánchez, Maria José, Gutierrez-Ríos, Purificacion
Publicado 2021

ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency

por Vázquez-Fonseca, Luis, Schäefer, Jochen, Navas-Enamorado, Ignacio, Santos-Ocaña, Carlos, Hernández-Camacho, Juan D., Guerra, Ignacio, Cascajo, María V., Sánchez-Cuesta, Ana, Horvath, Zoltan, Siendones, Emilio, Jou, Cristina, Casado, Mercedes, Gutierrez-Rios, Purificación, Brea-Calvo, Gloria, López-Lluch, Guillermo, Fernández-Ayala, Daniel J.M., Cortés, Ana B., Rodríguez-Aguilera, Juan C., Matté, Cristiane, Ribes, Antonia, Prieto-Soler, Sandra Y., Dominguez-del-Toro, Eduardo, di Francesco, Andrea, Aon, Miguel A., Bernier, Michel, Salviati, Leonardo, Artuch, Rafael, de Cabo, Rafael, Jackson, Sandra, Navas, Plácido
Publicado 2019

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

por Olsen, Rikke K.J., Koňaříková, Eliška, Giancaspero, Teresa A., Mosegaard, Signe, Boczonadi, Veronika, Mataković, Lavinija, Veauville-Merllié, Alice, Terrile, Caterina, Schwarzmayr, Thomas, Haack, Tobias B., Auranen, Mari, Leone, Piero, Galluccio, Michele, Imbard, Apolline, Gutierrez-Rios, Purificacion, Palmfeldt, Johan, Graf, Elisabeth, Vianey-Saban, Christine, Oppenheim, Marcus, Schiff, Manuel, Pichard, Samia, Rigal, Odile, Pyle, Angela, Chinnery, Patrick F., Konstantopoulou, Vassiliki, Möslinger, Dorothea, Feichtinger, René G., Talim, Beril, Topaloglu, Haluk, Coskun, Turgay, Gucer, Safak, Botta, Annalisa, Pegoraro, Elena, Malena, Adriana, Vergani, Lodovica, Mazzà, Daniela, Zollino, Marcella, Ghezzi, Daniele, Acquaviva, Cecile, Tyni, Tiina, Boneh, Avihu, Meitinger, Thomas, Strom, Tim M., Gregersen, Niels, Mayr, Johannes A., Horvath, Rita, Barile, Maria, Prokisch, Holger
Publicado 2016