Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups von Gómez-Durán, Aurora, Pacheu-Grau, David, López-Gallardo, Ester, Díez-Sánchez, Carmen, Montoya, Julio, López-Pérez, Manuel J., Ruiz-Pesini, Eduardo

Volltext

Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation von Vela‐Sebastián, Ana, López‐Gallardo, Ester, Emperador, Sonia, Hernández‐Ainsa, Carmen, Pacheu‐Grau, David, Blanco, Ignacio, Ros, Andrea, Pascual‐Benito, Ester, Rabaneda‐Lombarte, Neus, Presas‐Rodríguez, Silvia, García‐Robles, Pilar, Montoya, Julio, Ruiz‐Pesini, Eduardo

Volltext

Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis von López‐Gallardo, Ester, Cammarata‐Scalisi, Francisco, Emperador, Sonia, Hernández‐Ainsa, Carmen, Habbane, Mouna, Vela‐Sebastián, Ana, Bayona‐Bafaluy, María Pilar, Montoya, Julio, Ruiz‐Pesini, Eduardo

Volltext

Oxidative phosphorylation differences between mitochondrial DNA haplogroups modify the risk of Leber's hereditary optic neuropathy von Gómez-Durán, Aurora, Pacheu-Grau, David, Martínez-Romero, Íñigo, López-Gallardo, Ester, López-Pérez, Manuel J., Montoya, Julio, Ruiz-Pesini, Eduardo

Volltext

Is population frequency a useful criterion to assign pathogenicity to newly described mitochondrial DNA variants? von Bayona-Bafaluy, M. Pilar, López-Gallardo, Ester, Emperador, Sonia, Pacheu-Grau, David, Montoya, Julio, Ruiz-Pesini, Eduardo

Volltext

Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation von Emperador, Sonia, López-Gallardo, Ester, Hernández-Ainsa, Carmen, Habbane, Mouna, Montoya, Julio, Bayona-Bafaluy, M Pilar, Ruiz-Pesini, Eduardo

Volltext

Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree von Emperador, Sonia, Habbane, Mouna, López-Gallardo, Ester, Del Rio, Alejandro, Llobet, Laura, Mateo, Javier, Sanz-López, Ana María, Fernández-García, María José, Sánchez-Tocino, Hortensia, Benbunan-Ferreiro, Sol, Calabuig-Goena, María, Narvaez-Palazón, Carlos, Fernández-Vega, Beatriz, González-Iglesias, Hector, Urreizti, Roser, Artuch, Rafael, Pacheu-Grau, David, Bayona-Bafaluy, Pilar, Montoya, Julio, Ruiz-Pesini, Eduardo

Volltext

Oxidative Phosphorylation Dysfunction Modifies the Cell Secretome von Garrido-Perez, Nuria, Vela-Sebastian, Ana, Lopez-Gallardo, Ester, Emperador, Sonia, Iglesias, Eldris, Meade, Patricia, Jimenez-Mallebrera, Cecilia, Montoya, Julio, Pilar Bayona-Bafaluy, M., Ruiz-Pesini, Eduardo

Volltext

Pathological Features in Paediatric Patients with TK2 Deficiency von Jou, Cristina, Nascimento, Andres, Codina, Anna, Montoya, Julio, López-Gallardo, Ester, Emperador, Sonia, Ruiz-Pesini, Eduardo, Montero, Raquel, Natera-de Benito, Daniel, Ortez, Carlos I., Marquez, Jesus, Zelaya, Maria V., Gutierrez-Mata, Alfonso, Badosa, Carmen, Carrera-García, Laura, Expósito-Escudero, Jesica, Roldán, Monica, Camara, Yolanda, Marti, Ramon, Ferrer, Isidre, Jimenez-Mallebrera, Cecilia, Artuch, Rafael

Volltext

The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient von Emperador, Sonia, Vidal, Mariona, Hernández-Ainsa, Carmen, Ruiz-Ruiz, Cristina, Woods, Daniel, Morales-Becerra, Ana, Arruga, Jorge, Artuch, Rafael, López-Gallardo, Ester, Bayona-Bafaluy, M Pilar, Montoya, Julio, Ruiz-Pesini, Eduardo

Volltext

20 years of human mtDNA pathologic point mutations: Carefully reading the pathogenicity criteria von Montoya, Julio, López-Gallardo, Ester, Díez-Sánchez, Carmen, López-Pérez, Manuel J., Ruiz-Pesini, Eduardo

Volltext

CPEO and KSS differ in the percentage and location of the mtDNA deletion von López-Gallardo, Ester, López-Pérez, Manuel J, Montoya, Julio, Ruiz-Pesini, Eduardo

Volltext

Pharmacologic concentrations of linezolid modify oxidative phosphorylation function and adipocyte secretome von Llobet, Laura, Bayona-Bafaluy, M. Pilar, Pacheu-Grau, David, Torres-Pérez, Elena, Arbones-Mainar, José M., Navarro, M. Ángeles, Gómez-Díaz, Covadonga, Montoya, Julio, López-Gallardo, Ester, Ruiz-Pesini, Eduardo

Volltext

New MT-ND1 pathologic mutation for Leber hereditary optic neuropathy von Martínez-Romero, Íñigo, Herrero-Martín, M Dolores, Llobet, Laura, Emperador, Sonia, Martín-Navarro, Antonio, Narberhaus, Bernat, Ascaso, Francisco J, López-Gallardo, Ester, Montoya, Julio, Ruiz-Pesini, Eduardo

Volltext

Increasing mtDNA levels as therapy for mitochondrial optic neuropathies von Ruiz-Pesini, Eduardo, Emperador, Sonia, López-Gallardo, Ester, Hernández-Ainsa, Carmen, Montoya, Julio

Volltext

new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1) von Herrero-Martín, María D, Pineda, Mercedes, Briones, Paz, López-Gallardo, Ester, Carreras, Magdalena, Benac, Mercedes, Angel Idoate, Miguel, Vilaseca, María A, Artuch, Rafael, López-Pérez, Manuel J, Ruiz-Pesini, Eduardo, Montoya, Julio

Volltext

Genetic aspects of the oxidative phosphorylation dysfunction in dilated cardiomyopathy von Bayona-Bafaluy, M.Pilar, Iglesias, Eldris, López-Gallardo, Ester, Emperador, Sonia, Pacheu-Grau, David, Labarta, Lorenzo, Montoya, Julio, Ruiz-Pesini, Eduardo

Volltext

Effects of Tributyltin Chloride on Cybrids with or without an ATP Synthase Pathologic Mutation von López-Gallardo, Ester, Llobet, Laura, Emperador, Sonia, Montoya, Julio, Ruiz-Pesini, Eduardo

Volltext

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential no... von Kalko, Susana Graciela, Paco, Sonia, Jou, Cristina, Rodríguez, Maria Angels, Meznaric, Marija, Rogac, Mihael, Jekovec-Vrhovsek, Maja, Sciacco, Monica, Moggio, Maurizio, Fagiolari, Gigliola, De Paepe, Boel, De Meirleir, Linda, Ferrer, Isidre, Roig-Quilis, Manel, Munell, Francina, Montoya, Julio, López-Gallardo, Ester, Ruiz-Pesini, Eduardo, Artuch, Rafael, Montero, Raquel, Torner, Ferran, Nascimento, Andres, Ortez, Carlos, Colomer, Jaume, Jimenez-Mallebrera, Cecilia

Volltext

Ndufs4 related Leigh syndrome: A case report and review of the literature von Ortigoza-Escobar, Juan Darío, Oyarzabal, Alfonso, Montero, Raquel, Artuch, Rafael, Jou, Cristina, Jiménez, Cecilia, Gort, Laura, Briones, Paz, Muchart, Jordi, López-Gallardo, Ester, Emperador, Sonia, Pesini, Eduardo Ruiz, Montoya, Julio, Pérez, Belén, Rodríguez-Pombo, Pilar, Pérez-Dueñas, Belén

Volltext