Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome

od Cámara, Yolanda, González-Vioque, Emiliano, Scarpelli, Mauro, Torres-Torronteras, Javier, Caballero, Andrea, Hirano, Michio, Martí, Ramon
izdano v Hum Mol Genet (2014)

Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy

od Torres-Torronteras, Javier, Cabrera-Pérez, Raquel, Vila-Julià, Ferran, Viscomi, Carlo, Cámara, Yolanda, Hirano, Michio, Zeviani, Massimo, Martí, Ramon
izdano v Hum Gene Ther (2018)

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

od Carreño-Gago, Lidia, Blázquez-Bermejo, Cora, Díaz-Manera, Jordi, Cámara, Yolanda, Gallardo, Eduard, Martí, Ramon, Torres-Torronteras, Javier, García-Arumí, Elena
izdano v Front Genet (2019)

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

od Blázquez-Bermejo, Cora, Molina-Granada, David, Vila-Julià, Ferran, Jiménez-Heis, Daniel, Zhou, Xiaoshan, Torres-Torronteras, Javier, Karlsson, Anna, Martí, Ramon, Cámara, Yolanda
izdano v EBioMedicine (2019)

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

od Vila-Julià, Ferran, Cabrera-Pérez, Raquel, Cámara, Yolanda, Molina-Berenguer, Miguel, Lope-Piedrafita, Silvia, Hirano, Michio, Mingozzi, Federico, Torres-Torronteras, Javier, Martí, Ramon
izdano v EBioMedicine (2020)

Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encep...

od Torres-Torronteras, Javier, Cabrera-Pérez, Raquel, Barba, Ignasi, Costa, Carme, de Luna, Noemí, Andreu, Antoni L., Barquinero, Jordi, Hirano, Michio, Cámara, Yolanda, Martí, Ramon
izdano v Hum Gene Ther (2016)

Therapy Prospects for Mitochondrial DNA Maintenance Disorders

od Ramón, Javier, Vila-Julià, Ferran, Molina-Granada, David, Molina-Berenguer, Miguel, Melià, Maria Jesús, García-Arumí, Elena, Torres-Torronteras, Javier, Cámara, Yolanda, Martí, Ramon
izdano v Int J Mol Sci (2021)

Gene Therapy Using a Liver-targeted AAV Vector Restores Nucleoside and Nucleotide Homeostasis in a Murine Model of MNGIE

od Torres-Torronteras, Javier, Viscomi, Carlo, Cabrera-Pérez, Raquel, Cámara, Yolanda, Di Meo, Ivano, Barquinero, Jordi, Auricchio, Alberto, Pizzorno, Giuseppe, Hirano, Michio, Zeviani, Massimo, Martí, Ramon
Izdano 2014

Association of the K153R polymorphism in the myostatin gene and extreme longevity

od Garatachea, Nuria, Pinós, Tomàs, Cámara, Yolanda, Rodríguez-Romo, Gabriel, Emanuele, Enzo, Ricevuti, Giovanni, Venturini, Letizia, Santos-Lozano, Alejandro, Santiago-Dorrego, Catalina, Fiuza-Luces, Carmen, Yvert, Thomas, Andreu, Antoni L., Lucia, Alejandro
Izdano 2013

A Transcriptomic Approach to Search for Novel Phenotypic Regulators in McArdle Disease

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

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

od Blasco, Natividad, Cámara, Yolanda, Núñez, Estefanía, Beà, Aida, Barés, Gisel, Forné, Carles, Ruíz-Meana, Marisol, Girón, Cristina, Barba, Ignasi, García-Arumí, Elena, García-Dorado, David, Vázquez, Jesús, Martí, Ramon, Llovera, Marta, Sanchis, Daniel
izdano v Redox Biol (2018)

LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs

od Ruzzenente, Benedetta, Metodiev, Metodi D, Wredenberg, Anna, Bratic, Ana, Park, Chan Bae, Cámara, Yolanda, Milenkovic, Dusanka, Zickermann, Volker, Wibom, Rolf, Hultenby, Kjell, Erdjument-Bromage, Hediye, Tempst, Paul, Brandt, Ulrich, Stewart, James B, Gustafsson, Claes M, Larsson, Nils-Göran
Izdano 2012

The rs1333049 polymorphism on locus 9p21.3 and extreme longevity in Spanish and Japanese cohorts

od Pinós, Tomàs, Fuku, Noriyuki, Cámara, Yolanda, Arai, Yasumichi, Abe, Yukiko, Rodríguez-Romo, Gabriel, Garatachea, Nuria, Santos-Lozano, Alejandro, Miro-Casas, Elisabet, Ruiz-Meana, Marisol, Otaegui, Imanol, Murakami, Haruka, Miyachi, Motohiko, Garcia-Dorado, David, Hinohara, Kunihiko, Andreu, Antoni L., Kimura, Akinori, Hirose, Nobuyoshi, Lucia, Alejandro
Izdano 2013

MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria

od Dalla Rosa, Ilaria, Cámara, Yolanda, Durigon, Romina, Moss, Chloe F., Vidoni, Sara, Akman, Gokhan, Hunt, Lilian, Johnson, Mark A., Grocott, Sarah, Wang, Liya, Thorburn, David R., Hirano, Michio, Poulton, Joanna, Taylor, Robert W., Elgar, Greg, Martí, Ramon, Voshol, Peter, Holt, Ian J., Spinazzola, Antonella
izdano v PLoS Genet (2016)

Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

od Dominguez-Gonzalez, Cristina, Badosa, Carmen, Madruga-Garrido, Marcos, Martí, Itxaso, Paradas, Carmen, Ortez, Carlos, Diaz-Manera, Jordi, Berardo, Andres, Alonso-Pérez, Jorge, Trifunov, Selena, Cuadras, Daniel, Kalko, Susana G., Blázquez-Bermejo, Cora, Cámara, Yolanda, Martí, Ramon, Mavillard, Fabiola, Martin, Miguel A., Montoya, Julio, Ruiz-Pesini, Eduardo, Villarroya, Joan, Montero, Raquel, Villarroya, Francesc, Artuch, Rafael, Hirano, Michio, Nascimento, Andrés, Jimenez-Mallebrera, Cecilia
izdano v Sci Rep (2020)

Retrospective natural history of thymidine kinase 2 deficiency

od 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
izdano v J Med Genet (2018)