Mutations in mtDNA: Are We Scraping the Bottom of the Barrel?

Por DiMauro, Salvatore, Andreu, Antoni L.
Publicado no Brain Pathol (2006)

Novel Role of ATPase Subunit C Targeting Peptides Beyond Mitochondrial Protein Import

Por Vives-Bauza, Cristofol, Magrané, Jordi, Andreu, Antoni L., Manfredi, Giovanni
Publicado em 2010

Limited dCTP Availability Accounts for Mitochondrial DNA Depletion in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

Por González-Vioque, Emiliano, Torres-Torronteras, Javier, Andreu, Antoni L., Martí, Ramon
Publicado em 2011

Oxidative stress modulates mitochondrial failure and cyclophilin D function in X-linked adrenoleukodystrophy

Por López-Erauskin, Jone, Galino, Jorge, Bianchi, Patrizia, Fourcade, Stéphane, Andreu, Antoni L., Ferrer, Isidre, Muñoz-Pinedo, Cristina, Pujol, Aurora
Publicado em 2012

Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vit...

Por de Luna, Noemí, Brull, Astrid, Guiu, Josep Maria, Lucia, Alejandro, Martin, Miguel Angel, Arenas, Joaquin, Martí, Ramon, Andreu, Antoni L., Pinós, Tomàs
Publicado no Dis Model Mech (2015)

Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model

Por Brull, Astrid, de Luna, Noemí, Blanco-Grau, Albert, Lucia, Alejandro, Martin, Miguel Angel, Arenas, Joaquin, Martí, Ramon, Andreu, Antoni L, Pinós, Tomàs
Publicado no J Physiol (2015)

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

Por Torres-Torronteras, Javier, Cabrera-Pérez, Raquel, Barba, Ignasi, Costa, Carme, de Luna, Noemí, Andreu, Antoni L., Barquinero, Jordi, Hirano, Michio, Cámara, Yolanda, Martí, Ramon
Publicado no Hum Gene Ther (2016)

Impaired expression of mitochondrial and adipogenic genes in adipose tissue from a patient with acquired partial lipodystrophy (Barraquer-Simons syndrome): a case report

Por Guallar Jordi P, Rojas-Garcia Ricardo, Garcia-Arumi Elena, Domingo Joan C, Gallardo Eduardo, Andreu Antoni L, Domingo Pere, Illa Isabel, Giralt Marta, Villarroya Francesc
Publicado em 2008-08-01

Impaired expression of mitochondrial and adipogenic genes in adipose tissue from a patient with acquired partial lipodystrophy (Barraquer-Simons syndrome): a case report

Por Guallar, Jordi P, Rojas-Garcia, Ricardo, Garcia-Arumi, Elena, Domingo, Joan C, Gallardo, Eduardo, Andreu, Antoni L, Domingo, Pere, Illa, Isabel, Giralt, Marta, Villarroya, Francesc
Publicado em 2008

Clinical characteristics of COVID-19 in older adults. A retrospective study in long-term nursing homes in Catalonia

Por Meis-Pinheiro, Uxío, Lopez-Segui, Francesc, Walsh, Sandra, Ussi, Anton, Santaeugenia, Sebastia, Garcia-Navarro, Jose Augusto, San-Jose, Antonio, Andreu, Antoni L., Campins, Magda, Almirante, Benito
Publicado no PLoS One (2021)

Expression of Glycogen Phosphorylase Isoforms in Cultured Muscle from Patients with McArdle's Disease Carrying the p.R771PfsX33 PYGM Mutation

Por Nogales-Gadea, Gisela, Mormeneo, Emma, García-Consuegra, Inés, Rubio, Juan C., Orozco, Anna, Arenas, Joaquin, Martín, Miguel A., Lucia, Alejandro, Gómez-Foix, Anna M., Martí, Ramon, Andreu, Antoni L.
Publicado em 2010

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

Por 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
Publicado em 2013

Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models

Por Almodóvar-Payá, Aitana, Villarreal-Salazar, Mónica, de Luna, Noemí, Nogales-Gadea, Gisela, Real-Martínez, Alberto, Andreu, Antoni L., Martín, Miguel Angel, Arenas, Joaquin, Lucia, Alejandro, Vissing, John, Krag, Thomas, Pinós, Tomàs
Publicado no Int J Mol Sci (2020)

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

Por 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.
Publicado em 2012

Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model

Por Real-Martinez, Alberto, Brull, Astrid, Huerta, Jordi, Tarrasó, Guillermo, Lucia, Alejandro, Martin, Miguel Angel, Arenas, Joaquin, Andreu, Antoni L., Nogales-Gadea, Gisela, Vissing, John, Krag, Thomas O., de Luna, Noemi, Pinós, Tomàs
Publicado no Sci Rep (2019)

Oxidative Damage Compromises Energy Metabolism in the Axonal Degeneration Mouse Model of X-Adrenoleukodystrophy

Por Galino, Jorge, Ruiz, Montserrat, Fourcade, Stéphane, Schlüter, Agatha, López-Erauskin, Jone, Guilera, Cristina, Jove, Mariona, Naudi, Alba, García-Arumí, Elena, Andreu, Antoni L., Starkov, Anatoly A., Pamplona, Reinald, Ferrer, Isidre, Portero-Otin, Manuel, Pujol, Aurora
Publicado em 2011

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene

Por Melià, Maria J., Kubota, Akatsuki, Ortolano, Saida, Vílchez, Juan J., Gámez, Josep, Tanji, Kurenai, Bonilla, Eduardo, Palenzuela, Lluís, Fernández-Cadenas, Israel, Přistoupilová, Anna, García-Arumí, Elena, Andreu, Antoni L., Navarro, Carmen, Hirano, Michio, Martí, Ramon
Publicado em 2013

Are mitochondrial haplogroups associated with extreme longevity? A study on a Spanish cohort

Por Pinós, Tomàs, Nogales-Gadea, Gisela, Ruiz, Jonatan R., Rodríguez-Romo, Gabriel, Santiago-Dorrego, Catalina, Fiuza-Luces, Carmen, Gómez-Gallego, Félix, Cano-Nieto, Amalia, Garatachea, Nuria, Morán, María, Angel Martín, Miguel, Arenas, Joaquín, Andreu, Antoni L., Lucia, Alejandro
Publicado em 2011

Absence of p.R50X Pygm read-through in McArdle disease cellular models

Por Tarrasó, Guillermo, Real-Martinez, Alberto, Parés, Marta, Romero-Cortadellas, Lídia, Puigros, Laura, Moya, Laura, de Luna, Noemí, Brull, Astrid, Martín, Miguel Angel, Arenas, Joaquin, Lucia, Alejandro, Andreu, Antoni L., Barquinero, Jordi, Vissing, John, Krag, Thomas O., Pinós, Tomàs
Publicado no Dis Model Mech (2020)

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

Por 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
Publicado em 2013