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| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| openAccess |  | sep-2018 | A novel EPM2A mutation yields a slow progression form of Lafora disease | García-Gimeno, María Adelaida CSIC ORCID; Rodilla-Ramirez, Pilar Natalia; Viana, Rosa CSIC ORCID ; Salas-Puig, Xavier; Brewer, M. Kathryn; Gentry, Matthew S.; Sanz, Pascual CSIC ORCID | artículo |
| openAccess |  | 12-abr-2018 | AMPK Protein Interaction Analyses by Yeast Two-Hybrid | Sanz, Pascual CSIC ORCID ; Viana, Rosa CSIC ORCID ; García-Gimeno, María Adelaida CSIC ORCID | artículo |
| openAccess |  | 24-jun-2013 | AMPKbeta subunits, more than just a scaffold in the formation of AMPK complex | Sanz, Pascual CSIC ORCID ; Rubio, Teresa CSIC ORCID; García-Gimeno, María Adelaida CSIC ORCID | artículo |
| openAccess |  | 13-oct-2021 | An empirical pipeline for personalized diagnosis of Lafora disease mutations | Brewer, M. Kathryn; Machio-Castello, Maria; Viana, Rosa CSIC ORCID ; Wayne, Jeremiah L.; Kuchtová, Andrea; Simmons, Zoe R.; Sternbach, Sarah; Li, Sheng; García-Gimeno, María Adelaida CSIC ORCID; Serratosa, José M.; Sanz, Pascual CSIC ORCID ; Vander Kooi, Craig W.; Gentry, Matthew S. | artículo |
| openAccess |  | 1-abr-2018 | Astrocytes: new players in progressive myoclonus epilepsy of Lafora type | Rubio-Villena, Carla CSIC ORCID; Viana, Rosa CSIC ORCID ; Bonet, Jose; García-Gimeno, María Adelaida CSIC ORCID; Casado, Marta CSIC ORCID ; Heredia, Miguel CSIC; Sanz, Pascual CSIC ORCID | artículo |
| openAccess |  | 6-mar-2008 | Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity onset diabetes of the young (MODY2) patients | Estalella, Itziar; García-Gimeno, María Adelaida CSIC ORCID; Marina, Alberto CSIC ORCID ; Castaño, Luis; Sanz, Pascual CSIC ORCID | artículo |
| openAccess |  | 23-mar-2023 | Deciphering the polyglucosan accumulation present in Lafora disease using an astrocytic cellular model | Moreno-Estellés, Mireia CSIC ORCID; Campos, Ángela CSIC; Rubio-Villena, Carla CSIC ORCID; Kumarasinghe, Lorena CSIC ORCID; García-Gimeno, María Adelaida CSIC ORCID; Sanz, Pascual CSIC ORCID | artículo |
| openAccess |  | abr-2009 | Diagnostic difficulties in glucokinase hyperinsulinism | Meissner, T.; Marquard, J.; Cobo-Vuilleumier, Nadia CSIC ORCID; Maringa, M.; Rodríguez-Bada, P.; García-Gimeno, María Adelaida CSIC ORCID; Castro, M. J.; Aledo, J. C.; Baixeras, Elena CSIC ORCID; Weber, J.; Olek, K.; Sanz, Pascual CSIC ORCID ; Mayatepek, E.; Cuesta-Muñoz, Antonio L. | artículo |
| openAccess |  | may-2021 | Endocytosis of the glutamate transporter 1 is regulated by laforin and malin: Implications in Lafora disease | Pérez-Jiménez, Eva CSIC ORCID; Viana, Rosa CSIC ORCID ; Muñoz-Ballester, Carmen; Vendrell-Tornero, Carlos; Moll-Díaz, Raquel; García-Gimeno, María Adelaida CSIC ORCID; Sanz, Pascual CSIC ORCID | artículo |
| openAccess |  | 29-oct-2012 | Glucose-dependent regulation of AMP-activated protein kinase in MIN6 beta cells is not affected by the protein kinase A pathway | García-Haro, Luisa CSIC; García-Gimeno, María Adelaida CSIC ORCID; Neumann, Dietbert; Beullens, Monique; Bollen, Mathieu; Sanz, Pascual CSIC ORCID | artículo |
| openAccess |  | 26-abr-2013 | Glycogenic activity of R6, a protein phosphatase 1 regulatory subunit, is modulated by the laforin-malin complex | Rubio-Villena, Carla CSIC ORCID; García-Gimeno, María Adelaida CSIC ORCID; Sanz, Pascual CSIC ORCID | artículo |
| openAccess |  | 15-oct-2008 | Human pancreatic beta-cell glucokinase: subcellular localization and glucose repression signalling function in the yeast cell | Riera, Alberto; Ahuatzi, Deifilia; Herrero, Pilar CSIC; García-Gimeno, María Adelaida CSIC ORCID; Sanz, Pascual CSIC ORCID ; Moreno, Fernando CSIC ORCID | artículo |
| openAccess |  | 19-jul-2021 | Identification of novel substrates of Malin E3 ubiquitin ligase in Lafora disease | Kumarasinghe, Lorena CSIC ORCID; García-Gimeno, María Adelaida CSIC ORCID; Ramírez, Juan Manuel; Mayor, Ugo; Sanz, Pascual CSIC ORCID | póster de congreso |
|  | 26-jul-2018 | Lafora disease: a ubiquitination-related pathology | García-Gimeno, María Adelaida CSIC ORCID; Knecht, Erwin; Sanz, Pascual CSIC ORCID | |
| 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 |  | 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 |  | 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 |  | 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 |
| 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 |
| openAccess |  | 15-abr-2020 | Oxidative stress, a crossroad between rare diseases and neurodegeneration | Espinós, Carmen CSIC ORCID; Galindo, Máximo I. CSIC ORCID; García-Gimeno, María Adelaida CSIC ORCID; Ibáñez-Cabellos, José Santiago; Martínez-Rubio, Dolores CSIC ORCID; Millán, José María; Rodrigo, Regina; Sanz, Pascual CSIC ORCID ; Seco-Cervera, Marta; Sevilla, Teresa; Tapia, Andrea; Pallardó, Federico V. | artículo |
