Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions

by Lidia Carreño-Gago, Lidia Carreño-Gago, Cora Blázquez-Bermejo, Cora Blázquez-Bermejo, Jordi Díaz-Manera, Jordi Díaz-Manera, Yolanda Cámara, Yolanda Cámara, Eduard Gallardo, Eduard Gallardo, Ramon Martí, Ramon Martí, Javier Torres-Torronteras, Javier Torres-Torronteras, Elena García-Arumí, Elena García-Arumí, Elena García-Arumí
Published 2019-06-01

Efficacy of adeno-associated virus gene therapy in a MNGIE murine model enhanced by chronic exposure to nucleosides

by Ferran Vila-Julià, Raquel Cabrera-Pérez, Yolanda Cámara, Miguel Molina-Berenguer, Silvia Lope-Piedrafita, Michio Hirano, Federico Mingozzi, Javier Torres-Torronteras, Ramon Martí
Published 2020-12-01

Age-related metabolic changes limit efficacy of deoxynucleoside-based therapy in thymidine kinase 2-deficient miceResearch in context

by Cora Blázquez-Bermejo, David Molina-Granada, Ferran Vila-Julià, Daniel Jiménez-Heis, Xiaoshan Zhou, Javier Torres-Torronteras, Anna Karlsson, Ramon Martí, Yolanda Cámara
Published 2019-08-01

Therapy Prospects for Mitochondrial DNA Maintenance Disorders

by Javier Ramón, Ferran Vila-Julià, David Molina-Granada, Miguel Molina-Berenguer, Maria Jesús Melià, Elena García-Arumí, Javier Torres-Torronteras, Yolanda Cámara, Ramon Martí
Published 2021-06-01

A transcriptomic approach to search for novel phenotypic regulators in McArdle disease.

by Gisela Nogales-Gadea, Inés Consuegra-García, Juan C Rubio, Joaquin Arenas, Marc Cuadros, Yolanda Camara, Javier Torres-Torronteras, Carmen Fiuza-Luces, Alejandro Lucia, Miguel A Martín, Elena García-Arumí, Antoni L Andreu
Published 2012-01-01

Cardiomyocyte hypertrophy induced by Endonuclease G deficiency requires reactive oxygen radicals accumulation and is inhibitable by the micropeptide humanin

by Natividad Blasco, Yolanda Cámara, Estefanía Núñez, Aida Beà, Gisel Barés, Carles Forné, Marisol Ruíz-Meana, Cristina Girón, Ignasi Barba, Elena García-Arumí, David García-Dorado, Jesús Vázquez, Ramon Martí, Marta Llovera, Daniel Sanchis
Published 2018-06-01

MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria.

by Ilaria Dalla Rosa, Yolanda Cámara, Romina Durigon, Chloe F Moss, Sara Vidoni, Gokhan Akman, Lilian Hunt, Mark A Johnson, Sarah Grocott, Liya Wang, David R Thorburn, Michio Hirano, Joanna Poulton, Robert W Taylor, Greg Elgar, Ramon Martí, Peter Voshol, Ian J Holt, Antonella Spinazzola
Published 2016-01-01