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

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

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