Mostrando resultados 19 a 30 de 30
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| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| 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 |
| openAccess |  | 10-ene-2023 | P-Rex1 is a novel substrate of the E3 ubiquitin ligase Malin associated with Lafora disease | Kumarasinghe, Lorena CSIC ORCID; García-Gimeno, María Adelaida CSIC ORCID; Ramírez, J.; Mayor, U.; Zugaza, J. L.; Sanz, Pascual CSIC ORCID | artículo |
| openAccess |  | 23-jun-2016 | Phenotypic characterization of a new EPM2A mutation (N163D) | García-Gimeno, María Adelaida CSIC ORCID; Viana, Rosa CSIC ORCID ; Rubio-Villena, Carla CSIC ORCID; Sánchez-Martín, Pablo CSIC ORCID; Brewer, M. Kathryn; Gentry, Matthew S.; Sanz, Pascual CSIC ORCID | póster de congreso |
| openAccess |  | 28-nov-2011 | Plasmodium falciparum inhibitor-3 homolog increases protein phosphatase type 1 activity and is essential for parasitic survival | Fréville, Aline; Landrieu, Isabelle; García-Gimeno, María Adelaida CSIC ORCID; Kalamou, Hadidjatou; Montbarbon, Muriel; Bertin, Benjamin; Sanz, Pascual CSIC ORCID ; Werkmeister, Elisabeth; Pierrot, Christine; Khalife, Jamal | artículo |
| openAccess |  | 8-jun-2020 | Reactive Glia Inflammatory Signaling Pathways and Epilepsy | Sanz, Pascual CSIC ORCID ; García-Gimeno, María Adelaida CSIC ORCID | revisión |
| openAccess |  | 26-jun-2015 | Structure-Function Analysis of PPP1R3D, a Protein Phosphatase 1 Targeting Subunit, Reveals a Binding Motif for 14-3-3 Proteins which Regulates its Glycogenic Properties | Rubio-Villena, Carla CSIC ORCID; Sanz, Pascual CSIC ORCID ; García-Gimeno, María Adelaida CSIC ORCID | artículo |
| closedAccess | | ago-2005 | Structure—function analysis of the α5 and the α13 helices of human glucokinase: Description of two novel activating mutations | Pedelini, Leda CSIC ORCID; García-Gimeno, María Adelaida CSIC ORCID; Marina, Alberto CSIC ORCID ; Gomez-Zumaquero, Juan M.; Rodriguez-Bada, Pablo; López-Enríquez, Soledad CSIC ORCID; Soriguer, Federico C.; Cuesta-Muñoz, Antonio L.; Sanz, Pascual CSIC ORCID | artículo |
| openAccess |  | 3-oct-2016 | Studying Closed Hydrodynamic Models of "In Vivo" DNA Perfusion in Pig Liver for Gene Therapy Translation to Humans. | Sendra, Luis; Miguel, Antonio; Pérez-Enguix, Daniel; Herrero, María José CSIC ORCID; Montalvá, Eva; García-Gimeno, María Adelaida CSIC ORCID; Noguera, Inmaculada; Díaz, Ana; Pérez, Judith; Sanz, Pascual CSIC ORCID ; López-Andújar, Rafael; Martí-Bonmatí, Luis; Aliño, Salvador F. | artículo |
| openAccess |  | 30-jul-2020 | Synergistic activation of AMPK prevents from polyglutamine-inducedtoxicity inCaenorhabditis elegans | Gómez-Escribano, A. P.; Bono-Yagüe, J.; García-Gimeno, María Adelaida CSIC ORCID; Sequedo, M. D.; Hervás, D.; Fornés-Ferrer, Victoria; Torres-Sánchez, S. C.; Millán, J. M.; Sanz, Pascual CSIC ORCID ; Vázquez-Manrique, Rafael P. CSIC ORCID | artículo |
| openAccess |  | 1-feb-2016 | The interaction between AMPKβ2 and the PP1-targeting subunit R6 is dynamically regulated by intracellular glycogen content | Oligschlaeger, Yvonne; Miglianico, Marie; Dahlmans, Vivian; Rubio-Villena, Carla CSIC ORCID; Chanda, Dipanjan; García-Gimeno, María Adelaida CSIC ORCID; Coumans, Will A.; Liu, Yilin; Voncken, Jan Willem; Luiken, Joost J.F.P.; Glatz, Jan F.C.; Sanz, Pascual CSIC ORCID ; Neumann, Dietbert | artículo |
| openAccess |  | 6-abr-2021 | TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases | Kumarasinghe, Lorena CSIC ORCID; Xiong, Lu CSIC; García-Gimeno, María Adelaida CSIC ORCID; Lazzari, Elisa; Sanz, Pascual CSIC ORCID ; Meroni, Germana | artículo |
