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Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
openAccess | | 2012 | Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy | Criado-García, Olga CSIC ORCID ; Gayarre, Javier CSIC ORCID; Durán-Trío, Lara CSIC ORCID; Vernia, Santiago CSIC ORCID ; Heredia, Miguel CSIC; Romá-Mateo, Carlos CSIC ORCID CVN; Mourón, Silvana; Juana-López, Lucía CSIC ; Sanz, Pascual CSIC ORCID ; Bovolenta, Paola CSIC ORCID; Rodríguez de Córdoba, Santiago | artículo |
openAccess | | 28-jul-2011 | Lafora disease E3-ubiquitin ligase malin is related to TRIM32 at both the phylogenetic and functional level | Romá-Mateo, Carlos CSIC ORCID CVN; Moreno, Daniel; Vernia, Santiago CSIC ORCID ; Rubio, Teresa CSIC ORCID; Bridges, Travis M.; Gentry, Matthew S.; Sanz, Pascual CSIC ORCID | artículo |
openAccess | | 9-jul-2013 | Lafora disease fibroblasts exemplify the molecular interdependence between thioredoxin 1 and the proteasome in mammalian cells | García-Giménez, José Luis; Seco-Cervera, Marta; Aguado, Carmen; Dasí, Francisco; Romá-Mateo, Carlos CSIC ORCID CVN; Priego, Sonia; Markovic, Jelena; Knecht, Erwin; Sanz, Pascual CSIC ORCID ; Pallardó, Federico V. | artículo |
| | 26-jul-2018 | Lafora disease: a ubiquitination-related pathology | García-Gimeno, María Adelaida CSIC ORCID; Knecht, Erwin; Sanz, Pascual CSIC ORCID | |
openAccess | | 20-abr-2011 | Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism | Couarch, Philippe; Vernia, Santiago CSIC ORCID ; Gourfinkel-An, Isabelle; Lesca, Gaëtan; Gataullina, Svetlana; Fedirko, Estelle; Trouillard, Oriane; Depienne, Christel; Dulac, Olivier; Steschenko, Dominique; Leguern, Eric; Sanz, Pascual CSIC ORCID ; Baulac, Stéphanie | artículo |
openAccess | | 26-ago-2011 | Laforin, a dual specificity phosphatase involved in lafora disease, is present mainly as monomeric form with full phosphatase activity | Dukhande, Vikas V.; Rogers, Devin M.; Romá-Mateo, Carlos CSIC ORCID CVN; Donderis, Jorge CSIC; Marina, Alberto CSIC ORCID ; Taylor, Adam O.; Sanz, Pascual CSIC ORCID ; Gentry, Matthew S. | artículo |
closedAccess | | 1-jul-2011 | Laforin, a dual specificity phosphatase involved in Lafora disease, regulates insulin response and whole-body energy balance in mice. | Vernia, Santiago CSIC ORCID ; Heredia, Miguel CSIC; Criado-García, Olga CSIC ORCID ; Rodríguez de Córdoba, Santiago ; Sanz, Pascual CSIC ORCID | artículo |
openAccess | | 1-nov-2011 | Laforin, a dual specificity protein phosphatase involved in Lafora disease, is phosphorylated at Ser25 by AMP-activated protein kinase | Romá-Mateo, Carlos CSIC ORCID CVN; Solaz-Fuster, Maria Carmen CSIC; Gimeno-Alcañiz, José Vicente; Donderis, Jorge CSIC; Marina, Alberto CSIC ORCID ; Criado-García, Olga CSIC ORCID ; Rodríguez de Córdoba, Santiago ; Sanz, Pascual CSIC ORCID | artículo |
openAccess | | 16-mar-2012 | Laforin, a protein with many faces: glucan phosphatase, adapter protein, et alii | Gentry, Matthew S.; Romá-Mateo, Carlos CSIC ORCID CVN; Sanz, Pascual CSIC ORCID | preprint |
closedAccess | | 2003 | Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation | Fernández-Sánchez, Maria Elena CSIC; Criado-García, Olga CSIC ORCID ; Heath, Karen E.; García-Fojeda, Belén CSIC ORCID; Medraño-Fernández, Iria CSIC; Gómez-Garre, Pilar CSIC ORCID; Sanz, Pascual CSIC ORCID ; Serratosa, José María; Rodríguez de Córdoba, Santiago | artículo |
closedAccess | | jul-2010 | Laforin, the most common protein mutated in Lafora disease, regulates autophagy | Aguado, Carmen; Criado-García, Olga CSIC ORCID ; Vernia, Santiago CSIC ORCID ; Boya, Patricia CSIC ORCID ; Sanz, Pascual CSIC ORCID ; Rodríguez de Córdoba, Santiago ; Knecht, Erwin; Rubinsztein, David C. | artículo |
openAccess | | 8-abr-2010 | Large Islets, Beta-Cell Proliferation, and a Glucokinase Mutation | Kassem, Sameer; Bhandari, Sonal; Rodríguez-Bada, Pablo; Motaghedi, Roja; Heyman, Maayan; García-Gimeno, María Adelaida CSIC ORCID; Cobo-Vuilleumier, Nadia CSIC ORCID; Sanz, Pascual CSIC ORCID ; Maclaren, Noel K.; Rahier, Jacques; Glaser, Benjamin; Cuesta-Muñoz, Antonio Luís | artículo |
openAccess | | 1-abr-2012 | Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease | Knecht, Erwin; Criado-García, Olga CSIC ORCID ; Gayarre, Javier CSIC ORCID; Durán-Trío, Lara CSIC ORCID; Vernia, Santiago CSIC ORCID ; Heredia, Miguel CSIC; Romá-Mateo, Carlos CSIC ORCID CVN; Mourón, Silvana; Juana-López, Lucía CSIC ; Sanz, Pascual CSIC ORCID ; Bovolenta, Paola CSIC ORCID; Rodríguez de Córdoba, Santiago | artículo |
openAccess | | 5-jun-2019 | Metformin treatment reduces motor and neuropsychiatric phenotypes in the zQ175 mouse model of Huntington disease | Sanchis, Ana CSIC; García-Gimeno, María Adelaida CSIC ORCID; Cañada-Martínez, Antonio José; Sequedo, María Dolores; Millán, José María; Sanz, Pascual CSIC ORCID ; Vázquez-Manrique, Rafael P. CSIC ORCID | artículo |
openAccess | | 1-jun-2021 | Modulators of neuroinflammation have a beneficial effect in a Lafora disease mouse model | Mollá, Belén CSIC ORCID; Heredia, Miguel CSIC; Sanz, Pascual CSIC ORCID | artículo |
openAccess | | 4-abr-2019 | Modulators of neuroinflammation have beneficial effect in Lafora disease | Mollá, Belén CSIC ORCID; Heredia, Miguel CSIC; García-Gimeno, María Adelaida CSIC ORCID; Sanz, Pascual CSIC ORCID | póster de congreso |
openAccess | | 17-sep-2020 | Neuroinflammation and progressive myoclonus epilepsies: from basic science to therapeutic opportunities | Sanz, Pascual CSIC ORCID ; Serratosa, José M. | artículo |
openAccess | | 19-ene-2022 | Neuroprotective Effect of IND1316, an Indole-Based AMPK Activator, in Animal Models of Huntington Disease | Vela, Marta; García-Gimeno, María Adelaida CSIC ORCID; Sanchis, Ana CSIC; Bono-Yagüe, José; Cumella, José; Lagartera, Laura CSIC ORCID; Pérez, Concepción CSIC ORCID; Priego, Eva María CSIC ORCID; Campos, Ángela CSIC; Sanz, Pascual CSIC ORCID ; Vázquez-Manrique, Rafael P. CSIC ORCID; Castro, Ana CSIC ORCID | artículo |
closedAccess | | 2003 | New mutations of Saccharomyces cerevisiae that partially relieve both glucose and galactose repression activate the protein kinase Snf1 | Rodríguez-Sinovas, Cristina CSIC ORCID; Sanz, Pascual CSIC ORCID ; Gancedo, Carlos CSIC ORCID | artículo |
openAccess | | 2-nov-2009 | Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene | Barbetti, Fabrizio; Cobo-Vuilleumier, Nadia CSIC ORCID; Toni, Sonia; Dionisi-Vici, Carlo; Ciampalini, Paolo; Massa, Ornella; Rodriguez-Bada, Pablo; Colombo, Carlo; Lenzi, Lorenzo; García-Gimeno, María Adelaida CSIC ORCID; Bermúdez-Silva, Francisco Javier; Rodriguez de Fonseca, Fernando; Banin, Patrizia; Aledo, Juan C.; Baixeras, Elena CSIC ORCID; Sanz, Pascual CSIC ORCID ; Cuesta-Muñoz, Antonio L. | artículo |