Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down’s syndrome X Altafaj, M Dierssen, C Baamonde, E Martí, J Visa, J Guimerà, M Oset, ... Human molecular genetics 10 (18), 1915-1923, 2001 | 483 | 2001 |
Dyrk1A expression pattern supports specific roles of this kinase in the adult central nervous system E Martı́, X Altafaj, M Dierssen, S de la Luna, V Fotaki, M Alvarez, ... Brain research 964 (2), 250-263, 2003 | 169 | 2003 |
Interaction between the dihydropyridine receptor Ca2+ channel β-subunit and ryanodine receptor type 1 strengthens excitation-contraction coupling W Cheng, X Altafaj, M Ronjat, R Coronado Proceedings of the National Academy of Sciences 102 (52), 19225-19230, 2005 | 114 | 2005 |
Transduction of the scorpion toxin maurocalcine into cells: evidence that the toxin crosses the plasma membrane E Estève, K Mabrouk, A Dupuis, S Smida-Rezgui, X Altafaj, D Grunwald, ... Journal of Biological Chemistry 280 (13), 12833-12839, 2005 | 104 | 2005 |
Motor phenotypic alterations in TgDyrk1a transgenic mice implicate DYRK1A in Down syndrome motor dysfunction MM de Lagrán, X Altafaj, X Gallego, E Martı, X Estivill, I Sahun, C Fillat, ... Neurobiology of disease 15 (1), 132-142, 2004 | 98 | 2004 |
DYRK1A autophosphorylation on serine residue 520 modulates its kinase activity via 14-3-3 binding M Alvarez, X Altafaj, S Aranda, S de la Luna Molecular biology of the cell 18 (4), 1167-1178, 2007 | 96 | 2007 |
Cloning and characterization of DYRK1B, a novel member of the DYRK family of protein kinases S Leder, Y Weber, X Altafaj, X Estivill, HG Joost, W Becker Biochemical and biophysical research communications 254 (2), 474-479, 1999 | 89 | 1999 |
Glutamate receptor mutations in psychiatric and neurodevelopmental disorders D Soto, X Altafaj, C Sindreu, À Bayés Communicative & integrative biology 7 (1), e27887, 2014 | 85 | 2014 |
Targeting Dyrk1A with AAVshRNA attenuates motor alterations in TgDyrk1A, a mouse model of Down syndrome J Ortiz-Abalia, I Sahún, X Altafaj, N Andreu, X Estivill, M Dierssen, C Fillat The American Journal of Human Genetics 83 (4), 479-488, 2008 | 85 | 2008 |
Normalization of Dyrk1A expression by AAV2/1-shDyrk1A attenuates hippocampal-dependent defects in the Ts65Dn mouse model of Down syndrome X Altafaj, ED Martín, J Ortiz-Abalia, A Valderrama, C Lao-Peregrín, ... Neurobiology of disease 52, 117-127, 2013 | 81 | 2013 |
Critical amino acid residues determine the binding affinity and the Ca2+ release efficacy of maurocalcine in skeletal muscle cells E Esteve, S Smida-Rezgui, S Sarkozi, C Szegedi, I Regaya, L Chen, ... Journal of Biological Chemistry 278 (39), 37822-37831, 2003 | 71 | 2003 |
l-Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B-related pediatric encephalopathy D Soto, M Olivella, C Grau, J Armstrong, C Alcon, X Gasull, ... Science signaling 12 (586), eaaw0936, 2019 | 65 | 2019 |
Maurocalcine and domain A of the II-III loop of the dihydropyridine receptor Cav 1.1 subunit share common binding sites on the skeletal ryanodine receptor X Altafaj, W Cheng, E Estève, J Urbani, D Grunwald, JM Sabatier, ... Journal of Biological Chemistry 280 (6), 4013-4016, 2005 | 61 | 2005 |
The junctional SR protein JP-45 affects the functional expression of the voltage-dependent Ca2+ channel Cav1.1 AA Anderson, X Altafaj, Z Zheng, ZM Wang, O Delbono, M Ronjat, ... Journal of cell science 119 (10), 2145-2155, 2006 | 54 | 2006 |
A store-operated Ca2+ influx activated in response to the depletion of thapsigargin-sensitive Ca2+ stores is developmentally regulated in embryonic cortical neurons from mice A Bouron, X Altafaj, S Boisseau, M De Waard Developmental brain research 159 (1), 64-71, 2005 | 46 | 2005 |
DYRK1A-mediated phosphorylation of GluN2A at Ser1048 regulates the surface expression and channel activity of GluN1/GluN2A receptors C Grau, K Arató, JM Fernández-Fernández, A Valderrama, C Sindreu, ... Frontiers in cellular neuroscience 8, 331, 2014 | 45 | 2014 |
Cavβ-subunit displacement is a key step to induce the reluctant state of P/Q calcium channels by direct G protein regulation G Sandoz, I Lopez-Gonzalez, D Grunwald, D Bichet, X Altafaj, N Weiss, ... Proceedings of the National Academy of Sciences 101 (16), 6267-6272, 2004 | 45 | 2004 |
Zinc transporter-1 concentrates at the postsynaptic density of hippocampal synapses C Sindreu, À Bayés, X Altafaj, J Pérez-Clausell Molecular brain 7, 1-7, 2014 | 38 | 2014 |
Increased NR2A expression and prolonged decay of NMDA-induced calcium transient in cerebellum of TgDyrk1A mice, a mouse model of Down syndrome X Altafaj, J Ortiz-Abalia, M Fernandez, MC Potier, J Laffaire, N Andreu, ... Neurobiology of Disease 32 (3), 377-384, 2008 | 38 | 2008 |
GRIN database: A unified and manually curated repertoire of GRIN variants A García‐Recio, A Santos‐Gómez, D Soto, N Julia‐Palacios, ... Human mutation 42 (1), 8-18, 2021 | 35 | 2021 |