Effects of Tributyltin Chloride on Cybrids with or without an ATP Synthase Pathologic Mutation

por López-Gallardo, Ester, Llobet, Laura, Emperador, Sonia, Montoya, Julio, Ruiz-Pesini, Eduardo
Publicado 2016

Human Mitochondrial DNA: Particularities and Diseases

por Habbane, Mouna, Montoya, Julio, Rhouda, Taha, Sbaoui, Yousra, Radallah, Driss, Emperador, Sonia
Publicado 2021

Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers

por Bianco, Angelica, Valletti, Alessio, Longo, Giovanna, Bisceglia, Luigi, Montoya, Julio, Emperador, Sonia, Guerriero, Silvana, Petruzzella, Vittoria
Publicado 2018

Is population frequency a useful criterion to assign pathogenicity to newly described mitochondrial DNA variants?

por Bayona-Bafaluy, M. Pilar, López-Gallardo, Ester, Emperador, Sonia, Pacheu-Grau, David, Montoya, Julio, Ruiz-Pesini, Eduardo
Publicado 2022

Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation

por Emperador, Sonia, López-Gallardo, Ester, Hernández-Ainsa, Carmen, Habbane, Mouna, Montoya, Julio, Bayona-Bafaluy, M. Pilar, Ruiz-Pesini, Eduardo
Publicado 2019

microRNA-mediated differential expression of TRMU, GTPBP3 and MTO1 in cell models of mitochondrial-DNA diseases

por Meseguer, Salvador, Boix, Olga, Navarro-González, Carmen, Villarroya, Magda, Boutoual, Rachid, Emperador, Sonia, García-Arumí, Elena, Montoya, Julio, Armengod, M.-Eugenia
Publicado 2017

An MRPS12 mutation modifies aminoglycoside sensitivity caused by 12S rRNA mutations

por Emperador, Sonia, Pacheu-Grau, David, Bayona-Bafaluy, M. Pilar, Garrido-Pérez, Nuria, Martín-Navarro, Antonio, López-Pérez, Manuel J., Montoya, Julio, Ruiz-Pesini, Eduardo
Publicado 2015

Oxidative Phosphorylation Dysfunction Modifies the Cell Secretome

por Garrido-Pérez, Nuria, Vela-Sebastián, Ana, López-Gallardo, Ester, Emperador, Sonia, Iglesias, Eldris, Meade, Patricia, Jiménez-Mallebrera, Cecilia, Montoya, Julio, Bayona-Bafaluy, M. Pilar, Ruiz-Pesini, Eduardo
Publicado 2020

The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient

por 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
Publicado 2018

Development and characterization of cell models harbouring mtDNA deletions for in vitro study of Pearson syndrome

por Hernández-Ainsa, Carmen, López-Gallardo, Ester, García-Jiménez, María Concepción, Climent-Alcalá, Francisco José, Rodríguez-Vigil, Carmen, García Fernández de Villalta, Marta, Artuch, Rafael, Montoya, Julio, Ruiz-Pesini, Eduardo, Emperador, Sonia
Publicado 2022

Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy

por Pacheu-Grau, David, Callegari, Sylvie, Emperador, Sonia, Thompson, Kyle, Aich, Abhishek, Topol, Sarah E, Spencer, Emily G, McFarland, Robert, Ruiz-Pesini, Eduardo, Torkamani, Ali, Taylor, Robert W, Montoya, Julio, Rehling, Peter
Publicado 2018

Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation

por 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
Publicado 2022

Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome

por Emperador, Sonia, Garrido-Pérez, Nuria, Amezcua-Gil, Javier, Gaudó, Paula, Andrés-Sanz, Julio Alberto, Yubero, Delia, Fernández-Marmiesse, Ana, O’Callaghan, Maria M., Ortigoza-Escobar, Juan D., Iriondo, Marti, Ruiz-Pesini, Eduardo, García-Cazorla, Angels, Gil-Campos, Mercedes, Artuch, Rafael, Montoya, Julio, Bayona-Bafaluy, María Pilar
Publicado 2020

Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome

por Quijada-Fraile, Pilar, O’Callaghan, Mar, Martín-Hernández, Elena, Montero, Raquel, Garcia-Cazorla, Àngels, de Aragón, Ana Martínez, Muchart, Jordi, Málaga, Ignacio, Pardo, Rafael, García-Gonzalez, Pedro, Jou, Cristina, Montoya, Julio, Emperador, Sonia, Ruiz-Pesini, Eduardo, Arenas, Joaquín, Martin, Miguel Angel, Ormazabal, Aida, Pineda, Mercè, García-Silva, María T, Artuch, Rafael
Publicado 2014

Pathological Features in Paediatric Patients with TK2 Deficiency

por 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
Publicado 2022

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction

por Montero, Raquel, Yubero, Delia, Villarroya, Joan, Henares, Desiree, Jou, Cristina, Rodríguez, Maria Angeles, Ramos, Federico, Nascimento, Andrés, Ortez, Carlos Ignacio, Campistol, Jaume, Perez-Dueñas, Belen, O'Callaghan, Mar, Pineda, Mercedes, Garcia-Cazorla, Angeles, Oferil, Jaume Colomer, Montoya, Julio, Ruiz-Pesini, Eduardo, Emperador, Sonia, Meznaric, Marija, Campderros, Laura, Kalko, Susana G., Villarroya, Francesc, Artuch, Rafael, Jimenez-Mallebrera, Cecilia
Publicado 2016

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

por Jou, Cristina, Ortigoza-Escobar, Juan D., O’Callaghan, Maria M., Nascimento, Andres, Darling, Alejandra, Pias-Peleteiro, Leticia, Perez-Dueñas, Belén, Pineda, Mercedes, Codina, Anna, Arjona, César, Armstrong, Judith, Palau, Francesc, Ribes, Antonia, Gort, Laura, Tort, Frederic, Navas, Placido, Ruiz-Pesini, Eduardo, Emperador, Sonia, Lopez-Gallardo, Ester, Bayona-Bafaluy, Pilar, Montero, Raquel, Jimenez-Mallebrera, Cecilia, Garcia-Cazorla, Angels, Montoya, Julio, Yubero, Delia, Artuch, Rafael
Publicado 2019

Retrospective natural history of thymidine kinase 2 deficiency

por Garone, Caterina, Taylor, Robert W, Nascimento, Andrés, Poulton, Joanna, Fratter, Carl, Domínguez-González, Cristina, Evans, Julie C, Loos, Mariana, Isohanni, Pirjo, Suomalainen, Anu, Ram, Dipak, Hughes, M Imelda, McFarland, Robert, Barca, Emanuele, Lopez Gomez, Carlos, Jayawant, Sandeep, Thomas, Neil D, Manzur, Adnan Y, Kleinsteuber, Karin, Martin, Miguel A, Kerr, Timothy, Gorman, Grainne S, Sommerville, Ewen W, Chinnery, Patrick F, Hofer, Monika, Karch, Christoph, Ralph, Jeffrey, Cámara, Yolanda, Madruga-Garrido, Marcos, Domínguez-Carral, Jana, Ortez, Carlos, Emperador, Sonia, Montoya, Julio, Chakrapani, Anupam, Kriger, Joshua F, Schoenaker, Robert, Levin, Bruce, Thompson, John L P, Long, Yuelin, Rahman, Shamima, Donati, Maria Alice, DiMauro, Salvatore, Hirano, Michio
Publicado 2018