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

Down syndrome is an oxidative phosphorylation disorder

por Bayona-Bafaluy, M. Pilar, Garrido-Pérez, Nuria, Meade, Patricia, Iglesias, Eldris, Jiménez-Salvador, Irene, Montoya, Julio, Martínez-Cué, Carmen, Ruiz-Pesini, Eduardo
Publicado 2021

Uridine Prevents Negative Effects of OXPHOS Xenobiotics on Dopaminergic Neuronal Differentiation

por Iglesias, Eldris, Bayona-Bafaluy, M. Pilar, Pesini, Alba, Garrido-Pérez, Nuria, Meade, Patricia, Gaudó, Paula, Jiménez-Salvador, Irene, Montoya, Julio, Ruiz-Pesini, Eduardo
Publicado 2019

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

Leigh Syndrome in a Pedigree Harboring the m.1555A>G Mutation in the Mitochondrial 12S rRNA

por Habbane, Mouna, Llobet, Laura, Bayona-Bafaluy, M. Pilar, Bárcena, José E., Ceberio, Leticia, Gómez-Díaz, Covadonga, Gort, Laura, Artuch, Rafael, Montoya, Julio, Ruiz-Pesini, Eduardo
Publicado 2020

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

Pharmacologic concentrations of linezolid modify oxidative phosphorylation function and adipocyte secretome

por 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
Publicado 2017

Brain pyrimidine nucleotide synthesis and Alzheimer disease

por Pesini, Alba, Iglesias, Eldris, Bayona-Bafaluy, M.Pilar, Garrido-Pérez, Nuria, Meade, Patricia, Gaudó, Paula, Jiménez-Salvador, Irene, Andrés-Benito, Pol, Montoya, Julio, Ferrer, Isidro, Pesini, Pedro, 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