| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| openAccess |  | 30-jun-2011 | A PTG Variant Contributes to a Milder Phenotype in Lafora Disease | Guerrero, Rosa; Vernia, Santiago CSIC ORCID ; Sanz, Raúl; Abreu-Rodríguez, Irene; Almaraz, Carmen; García-Hoyos, María; Michelucci, Roberto; Tassinari, Carlo Alberto; Riguzzi, Patrizia; Nobile, Carlo; Sanz, Pascual CSIC ORCID ; Serratosa, José M.; Gómez-Garre, Pilar CSIC ORCID | artículo |
| openAccess |  | 20-feb-2006 | A rare missense mutation in a type 2 diabetes patient decreases the transcriptional activity of human sterol regulatory element binding protein-1 | Vernia, Santiago CSIC ORCID ; Eberlé, Delphine; Hernández Mijares, Antonio; Foufelle, Fabienne; Casado, Marta CSIC ORCID | artículo |
| openAccess |  | 19-may-2022 | A Very Rare Variant in SREBF2, a Possible Cause of Hypercholesterolemia and Increased Glycemic Levels | García-García, Ana-Barbara; Martinez-Hervás, Sergio; Vernia, Santiago CSIC ORCID ; Ivorra, Carmen CSIC ORCID; Pulido, Ines; Martin-Escudero, Juan-Carlos; Casado, Marta CSIC ORCID ; Carretero, Julián; Real, Jose T.; Chaves, Felipe Javier | artículo |
| openAccess |  | 27-mar-2009 | AMP-activated protein kinase phosphorylates R5/PTG, the glycogen targeting subunit of the R5/PTG-PP1 holoenzyme and accelerates its downregulation by the laforin-malin complex | Vernia, Santiago CSIC ORCID ; Solaz-Fuster, Maria Carmen CSIC; Gimeno-Alcañiz, José Vicente; Rubio, Teresa CSIC ORCID; García-Haro, Luisa CSIC; Foretz, Marc; Rodríguez de Córdoba, Santiago ; Sanz, Pascual CSIC ORCID | artículo |
| openAccess |  | 1-jun-2007 | Estudio del factor de transcripción SREBP1 en estados de resistencia a insulina | Vernia, Santiago CSIC ORCID | tesis doctoral |
| closedAccess |  | 2013 | Identificación de una nueva variante mRNA del gen Pfkfb1 en hígado fetal de rata | Casado, Marta CSIC ORCID ; Cosin-Roger, Jesús CSIC; Vernia, Santiago CSIC ORCID ; Alvarez, María Soledad; Cucarella, Carme CSIC ; Boscá, Lisardo CSIC ORCID CVN ; Martín-Sanz, Paloma CSIC ORCID ; Fernández-Alvarez, Ana Julia CSIC ORCID | póster de congreso |
| closedAccess | | 3-ene-2013 | Identification of a novel Pfkfb1 mRNA variant in rat fetal liver | Cosin-Roger, Jesús CSIC; Vernia, Santiago CSIC ORCID ; Alvarez, María Soledad; Cucarella, Carme CSIC ; Boscá, Lisardo CSIC ORCID CVN ; Martín-Sanz, Paloma CSIC ORCID ; Fernández-Alvarez, Ana Julia CSIC ORCID; Casado, Marta CSIC ORCID | artículo |
| closedAccess |  | 1-oct-2010 | Impaired autophagy in Lafora disease | Knecht, Erwin; Aguado, Carmen; Sarkar, Sovan; Korolchuk, Viktor I.; Criado-García, Olga CSIC ORCID ; Vernia, Santiago CSIC ORCID ; Boya, Patricia CSIC ORCID ; Sanz, Pascual CSIC ORCID ; Rodríguez de Córdoba, Santiago ; Rubinsztein, David C. | artículo |
| openAccess |  | 16-jun-2009 | Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforin | Vernia, Santiago CSIC ORCID ; Rubio, Teresa CSIC ORCID; Heredia, Miguel CSIC; Rodríguez de Córdoba, Santiago ; Sanz, Pascual CSIC ORCID | artículo |
| 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 |  | 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 |
| 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 |
| 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 |  | 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 |  | 3-abr-2013 | Sumoylation of AMPKβ2 subunit enhances AMP-activated protein kinase activity | Rubio, Teresa CSIC ORCID; Vernia, Santiago CSIC ORCID ; Sanz, Pascual CSIC ORCID | artículo |
