Search Results - "ANDREU, Antoni L"

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

“…The natural history of COVID-19 and predictors of mortality in older adults need to be investigated to inform clinical operations and healthcare policy…”
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Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) by González-Vioque, Emiliano, Torres-Torronteras, Javier, Andreu, Antoni L, Martí, Ramon

“…Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a severe human disease caused by mutations in TYMP, the gene encoding thymidine phosphorylase…”
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Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update by Santalla, Alfredo, Nogales-Gadea, Gisela, Encinar, Alberto Blázquez, Vieitez, Irene, González-Quintana, Adrian, Serrano-Lorenzo, Pablo, Consuegra, Inés García, Asensio, Sara, Ballester-Lopez, Alfonsina, Pintos-Morell, Guillem, Coll-Cantí, Jaume, Pareja-Galeano, Helios, Díez-Bermejo, Jorge, Pérez, Margarita, Andreu, Antoni L, Pinós, Tomàs, Arenas, Joaquín, Martín, Miguel A, Lucia, Alejandro

“…We recently described the genotype/phenotype features of all Spanish patients diagnosed with McArdle disease as of January 2011 (n = 239, prevalence of…”
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Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models by 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

“…GSD are a group of disorders characterized by a defect in gene expression of specific enzymes involved in glycogen breakdown or synthesis, commonly resulting…”
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Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation by Karazi, Walaa, Scalco, Renata S, Stemmerik, Mads G, Løkken, Nicoline, Lucia, Alejandro, Santalla, Alfredo, Martinuzzi, Andrea, Vavla, Marinela, Reni, Gianluigi, Toscano, Antonio, Musumeci, Olimpia, Kouwenberg, Carlyn V, Laforêt, Pascal, Millán, Beatriz San, Vieitez, Irene, Siciliano, Gabriele, Kühnle, Enrico, Trost, Rebecca, Sacconi, Sabrina, Durmus, Hacer, Kierdaszuk, Biruta, Wakelin, Andrew, Andreu, Antoni L, Pinós, Tomàs, Marti, Ramon, Quinlivan, Ros, Vissing, John, Voermans, Nicol C

“…The European registry for individuals with GSD5 and other muscle glycogenosis (EUROMAC) was launched to register rare muscle glycogenosis in Europe, to…”
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Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis by García-Consuegra, Inés, Asensio-Peña, Sara, Garrido-Moraga, Rocío, Pinós, Tomàs, Domínguez-González, Cristina, Santalla, Alfredo, Nogales-Gadea, Gisela, Serrano-Lorenzo, Pablo, Andreu, Antoni L, Arenas, Joaquín, Zugaza, José L, Lucia, Alejandro, Martín, Miguel A

“…Glycogen storage disease type V (GSDV, McArdle disease) is a rare genetic myopathy caused by deficiency of the muscle isoform of glycogen phosphorylase (PYGM)…”
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Personalized Precision Medicine for Health Care Professionals: Development of a Competency Framework by Martin-Sanchez, Fernando, Lázaro, Martín, López-Otín, Carlos, Andreu, Antoni L, Cigudosa, Juan Cruz, Garcia-Barbero, Milagros

“…Personalized precision medicine represents a paradigm shift and a new reality for the health care system in Spain, with training being fundamental for its full…”
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Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene by MELIA, Maria J, KUBOTA, Akatsuki, GARCIA-ARUMI, Elena, ANDREU, Antoni L, NAVARRO, Carmen, HIRANO, Michio, MARTI, Ramon, ORTOLANO, Saida, VILCHEZ, Juan J, GAMEZ, Josep, TANJ I, Kurenai, BONILLA, Eduardo, PALENZUELA, Lluís, FERNANDEZ-CADENAS, Israel, PRISTOUPILOVA, Anna

“…In 2001, we reported linkage of an autosomal dominant form of limb-girdle muscular dystrophy, limb-girdle muscular dystrophy 1F, to chromosome 7q32.1-32.2, but…”
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Mitochondrial DAMPs induce endotoxin tolerance in human monocytes: an observation in patients with myocardial infarction by Fernández-Ruiz, Irene, Arnalich, Francisco, Cubillos-Zapata, Carolina, Hernández-Jiménez, Enrique, Moreno-González, Raúl, Toledano, Víctor, Fernández-Velasco, María, Vallejo-Cremades, Maria T, Esteban-Burgos, Laura, de Diego, Rebeca Pérez, Llamas-Matias, Miguel A, García-Arumi, Elena, Martí, Ramón, Boscá, Lisardo, Andreu, Antoni L, López-Sendón, José Luis, López-Collazo, Eduardo

“…Monocyte exposure to mitochondrial Danger Associated Molecular Patterns (DAMPs), including mitochondrial DNA (mtDNA), induces a transient state in which these…”
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Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry) by Pinós, Tomàs, Andreu, Antoni L, Bruno, Claudio, Hadjigeorgiou, Georgios M, Haller, Ronald G, Laforêt, Pascal, Lucía, Alejandro, Martín, Miguel A, Martinuzzi, Andrea, Navarro, Carmen, Oflazer, Piraye, Pouget, Jean, Quinlivan, Ros, Sacconi, Sabrina, Scalco, Renata S, Toscano, Antonio, Vissing, John, Vorgerd, Matthias, Wakelin, Andrew, Martí, Ramon

“…International patient registries are of particular importance for rare disorders, as they may contribute to overcome the lack of knowledge derived from low…”
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Oxidative damage compromises energy metabolism in the axonal degeneration mouse model of X-adrenoleukodystrophy by 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

“…Chronic metabolic impairment and oxidative stress are associated with the pathogenesis of axonal dysfunction in a growing number of neurodegenerative…”
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Mitochondrial dysfunction and therapeutic approaches in respiratory and limb muscles of cancer cachectic mice by Fermoselle, Clara, García‐Arumí, Elena, Puig‐Vilanova, Ester, Andreu, Antoni L., Urtreger, Alejandro J., de Kier Joffé, Elisa D. Bal, Tejedor, Alberto, Puente‐Maestu, Luís, Barreiro, Esther

“…New Findings •  What is the central question of this study? We explored whether experimental cancer‐induced cachexia may alter mitochondrial respiratory chain…”
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Absence of p.R50X Pygm read-through in McArdle disease cellular models by 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

“…McArdle disease is an autosomal recessive disorder caused by the absence of muscle glycogen phosphorylase, which leads to blocked muscle glycogen breakdown. We…”
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A transcriptomic approach to search for novel phenotypic regulators in McArdle disease by 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

“…McArdle disease is caused by lack of glycogen phosphorylase (GP) activity in skeletal muscle. Patients experience exercise intolerance, presenting as early…”
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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 vitro by de Luna, Noemí, Brull, Astrid, Guiu, Josep Maria, Lucia, Alejandro, Martin, Miguel Angel, Arenas, Joaquin, Martí, Ramon, Andreu, Antoni L, Pinós, Tomàs

“…McArdle disease, also termed 'glycogen storage disease type V', is a disorder of skeletal muscle carbohydrate metabolism caused by inherited deficiency of the…”
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Novel role of ATPase subunit C targeting peptides beyond mitochondrial protein import by Vives-Bauza, Cristofol, Magrané, Jordi, Andreu, Antoni L, Manfredi, Giovanni

“…In mammals, subunit c of the F(1)F(0)-ATP synthase has three isoforms (P1, P2, and P3). These isoforms differ by their cleavable mitochondrial targeting…”
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Association of the K153R polymorphism in the myostatin gene and extreme longevity by 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

“…The myostatin ( MSTN ) gene is a candidate to influence extreme longevity owing to its role in modulating muscle mass and sarcopenia and especially in…”
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Mitochondrial DNA abnormalities and autistic spectrum disorders by Pons, Roser, Andreu, Antoni L., Checcarelli, Nicoletta, Vilà, Maya R., Engelstad, Kristin, Sue, Carolyn M., Shungu, Dikoma, Haggerty, Rita, De Vivo, Darryl C., DiMauro, Salvatore

“…To further characterize mtDNA defects associated with autistic features, especially the A3243G mtDNA mutation and mtDNA depletion. Five patients with autistic…”
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Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutation by 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

“…Mutations in the PYGM gene encoding skeletal muscle glycogen phosphorylase (GP) cause a metabolic disorder known as McArdle's disease. Previous studies in…”
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The rs1333049 polymorphism on locus 9p21.3 and extreme longevity in Spanish and Japanese cohorts by 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

“…The rs1333049 (G/C) polymorphism located on chromosome 9p21.3 is a candidate to influence extreme longevity owing to its association with age-related diseases,…”
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