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

Tekijä DiMauro, Salvatore, Andreu, Antoni L.
Julkaisussa Brain Pathol (2006)

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

Tekijä Vives-Bauza, Cristofol, Magrané, Jordi, Andreu, Antoni L., Manfredi, Giovanni
Julkaistu 2010

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

Tekijä González-Vioque, Emiliano, Torres-Torronteras, Javier, Andreu, Antoni L., Martí, Ramon
Julkaistu 2011

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

Tekijä López-Erauskin, Jone, Galino, Jorge, Bianchi, Patrizia, Fourcade, Stéphane, Andreu, Antoni L., Ferrer, Isidre, Muñoz-Pinedo, Cristina, Pujol, Aurora
Julkaistu 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...

Tekijä de Luna, Noemí, Brull, Astrid, Guiu, Josep Maria, Lucia, Alejandro, Martin, Miguel Angel, Arenas, Joaquin, Martí, Ramon, Andreu, Antoni L., Pinós, Tomàs
Julkaisussa Dis Model Mech (2015)

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

Tekijä Brull, Astrid, de Luna, Noemí, Blanco-Grau, Albert, Lucia, Alejandro, Martin, Miguel Angel, Arenas, Joaquin, Martí, Ramon, Andreu, Antoni L, Pinós, Tomàs
Julkaisussa 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...

Tekijä Torres-Torronteras, Javier, Cabrera-Pérez, Raquel, Barba, Ignasi, Costa, Carme, de Luna, Noemí, Andreu, Antoni L., Barquinero, Jordi, Hirano, Michio, Cámara, Yolanda, Martí, Ramon
Julkaisussa 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

Tekijä 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
Julkaistu 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

Tekijä 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
Julkaistu 2008

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

Tekijä 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
Julkaisussa PLoS One (2021)

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

Tekijä 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.
Julkaistu 2010

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

Tekijä 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
Julkaistu 2013

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

Tekijä 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
Julkaisussa Int J Mol Sci (2020)

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

Tekijä 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.
Julkaistu 2012

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

Tekijä 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
Julkaisussa Sci Rep (2019)

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

Tekijä 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
Julkaistu 2011

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

Tekijä 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
Julkaistu 2013

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

Tekijä 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
Julkaistu 2011

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

Tekijä 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
Julkaisussa Dis Model Mech (2020)

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

Tekijä 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
Julkaistu 2013