نتائج البحث - Torres-Torronteras, Javier

Limited dCTP Availability Accounts for Mitochondrial DNA Depletion in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) حسب González-Vioque, Emiliano, Torres-Torronteras, Javier, Andreu, Antoni L., Martí, Ramon

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Alpha-1-Antitrypsin Promoter Improves the Efficacy of an Adeno-Associated Virus Vector for the Treatment of Mitochondrial Neurogastrointestinal Encephalomyopathy حسب Cabrera-Pérez, Raquel, Vila-Julià, Ferran, Hirano, Michio, Mingozzi, Federico, Torres-Torronteras, Javier, Martí, Ramon

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Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome حسب Cámara, Yolanda, González-Vioque, Emiliano, Scarpelli, Mauro, Torres-Torronteras, Javier, Caballero, Andrea, Hirano, Michio, Martí, Ramon

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Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy حسب Torres-Torronteras, Javier, Cabrera-Pérez, Raquel, Vila-Julià, Ferran, Viscomi, Carlo, Cámara, Yolanda, Hirano, Michio, Zeviani, Massimo, Martí, Ramon

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Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions حسب Carreño-Gago, Lidia, Blázquez-Bermejo, Cora, Díaz-Manera, Jordi, Cámara, Yolanda, Gallardo, Eduard, Martí, Ramon, Torres-Torronteras, Javier, García-Arumí, Elena

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SAMHD1 Specifically Affects the Antiviral Potency of Thymidine Analog HIV Reverse Transcriptase Inhibitors حسب Ballana, Ester, Badia, Roger, Terradas, Gerard, Torres-Torronteras, Javier, Ruiz, Alba, Pauls, Eduardo, Riveira-Muñoz, Eva, Clotet, Bonaventura, Martí, Ramon, Esté, José A.

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Age-related metabolic changes limit efficacy of deoxynucleoside-based therapy in thymidine kinase 2-deficient mice حسب Blázquez-Bermejo, Cora, Molina-Granada, David, Vila-Julià, Ferran, Jiménez-Heis, Daniel, Zhou, Xiaoshan, Torres-Torronteras, Javier, Karlsson, Anna, Martí, Ramon, Cámara, Yolanda

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Efficacy of adeno-associated virus gene therapy in a MNGIE murine model enhanced by chronic exposure to nucleosides حسب Vila-Julià, Ferran, Cabrera-Pérez, Raquel, Cámara, Yolanda, Molina-Berenguer, Miguel, Lope-Piedrafita, Silvia, Hirano, Michio, Mingozzi, Federico, Torres-Torronteras, Javier, Martí, Ramon

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Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encep... حسب Torres-Torronteras, Javier, Cabrera-Pérez, Raquel, Barba, Ignasi, Costa, Carme, de Luna, Noemí, Andreu, Antoni L., Barquinero, Jordi, Hirano, Michio, Cámara, Yolanda, Martí, Ramon

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Therapy Prospects for Mitochondrial DNA Maintenance Disorders حسب Ramón, Javier, Vila-Julià, Ferran, Molina-Granada, David, Molina-Berenguer, Miguel, Melià, Maria Jesús, García-Arumí, Elena, Torres-Torronteras, Javier, Cámara, Yolanda, Martí, Ramon

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

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The G1/S Specific Cyclin D2 Is a Regulator of HIV-1 Restriction in Non-proliferating Cells حسب Badia, Roger, Pujantell, Maria, Riveira-Muñoz, Eva, Puig, Teresa, Torres-Torronteras, Javier, Martí, Ramón, Clotet, Bonaventura, Ampudia, Rosa M., Vives-Pi, Marta, Esté, José A., Ballana, Ester

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Most mitochondrial dGTP is tightly bound to respiratory complex I through the NDUFA10 subunit حسب Molina-Granada, David, González-Vioque, Emiliano, Dibley, Marris G., Cabrera-Pérez, Raquel, Vallbona-Garcia, Antoni, Torres-Torronteras, Javier, Sazanov, Leonid A., Ryan, Michael T., Cámara, Yolanda, Martí, Ramon

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Yeast Ppz1 protein phosphatase toxicity involves the alteration of multiple cellular targets حسب Velázquez, Diego, Albacar, Marcel, Zhang, Chunyi, Calafí, Carlos, López-Malo, María, Torres-Torronteras, Javier, Martí, Ramón, Kovalchuk, Sergey I., Pinson, Benoit, Jensen, Ole N., Daignan-Fornier, Bertrand, Casamayor, Antonio, Ariño, Joaquín

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

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Uridine Metabolism in HIV-1-Infected Patients: Effect of Infection, of Antiretroviral Therapy and of HIV-1/ART-Associated Lipodystrophy Syndrome حسب Domingo, Pere, Torres-Torronteras, Javier, Pomar, Virginia, Giralt, Marta, Domingo, Joan Carles, Gutierrez, Maria del Mar, Gallego-Escuredo, José M., Mateo, Maria Gracia, Cano-Soldado, Pedro, Fernandez, Irene, Pastor-Anglada, Marçal, Vidal, Francesc, Villarroya, Francesc, Andreu, Antoni, Marti, Ramon

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Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE حسب Yadak, Rana, Cabrera-Pérez, Raquel, Torres-Torronteras, Javier, Bugiani, Marianna, Haeck, Joost C., Huston, Marshall W., Bogaerts, Elly, Goffart, Steffi, Jacobs, Edwin H., Stok, Merel, Leonardelli, Lorena, Biasco, Luca, Verdijk, Robert M., Bernsen, Monique R., Ruijter, George, Martí, Ramon, Wagemaker, Gerard, van Til, Niek P., de Coo, Irenaeus F.M.

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Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy حسب Domínguez-González, Cristina, Madruga-Garrido, Marcos, Mavillard, Fabiola, Garone, Caterina, Aguirre-Rodríguez, Francisco Javier, Donati, M. Alice, Kleinsteuber, Karin, Martí, Itxaso, Martín-Hernández, Elena, Morealejo-Aycinena, Juan P., Munell, Francina, Nascimento, Andrés, Kalko, Susana G., Sardina, M. Dolores, del Vayo, Concepcion Álvarez, Serrano, Olga, Long, Yuelin, Tu, Yuqi, Levin, Bruce, Thompson, John L. P., Engelstad, Kristen, Uddin, Jasim, Torres-Torronteras, Javier, Jimenez-Mallebrera, Cecilia, Martí, Ramon, Paradas, Carmen, Hirano, Michio

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RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis حسب Shintaku, Jonathan, Pernice, Wolfgang M., Eyaid, Wafaa, GC, Jeevan B., Brown, Zuben P., Juanola-Falgarona, Marti, Torres-Torronteras, Javier, Sommerville, Ewen W., Hellebrekers, Debby M.E.I., Blakely, Emma L., Donaldson, Alan, van de Laar, Ingrid, Leu, Cheng-Shiun, Marti, Ramon, Frank, Joachim, Tanji, Kurenai, Koolen, David A., Rodenburg, Richard J., Chinnery, Patrick F., Smeets, H.J.M., Gorman, Gráinne S., Bonnen, Penelope E., Taylor, Robert W., Hirano, Michio

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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network حسب Hirano, Michio, Carelli, Valerio, De Giorgio, Roberto, Pironi, Loris, Accarino, Anna, Cenacchi, Giovanna, D’Alessandro, Roberto, Filosto, Massimiliano, Martí, Ramon, Nonino, Francesco, Pinna, Antonio Daniele, Baldin, Elisa, Bax, Bridget Elizabeth, Bolletta, Alessio, Bolletta, Riccardo, Boschetti, Elisa, Cescon, Matteo, D’Angelo, Roberto, Dotti, Maria Teresa, Giordano, Carla, Gramegna, Laura Ludovica, Levene, Michelle, Lodi, Raffaele, Mandel, Hanna, Morelli, Maria Cristina, Musumeci, Olimpia, Pugliese, Alessia, Scarpelli, Mauro, Siniscalchi, Antonio, Spinazzola, Antonella, Tal, Galit, Torres-Torronteras, Javier, Vignatelli, Luca, Zaidman, Irina, Zoller, Heinz, Rinaldi, Rita, Zeviani, Massimo

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