L-Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B -related pediatric encephalopathy
Soto, David, Olivella, Mireia, Grau, Cristina, Armstrong, Judith, Alcon, Clara, Gasull, Xavier, Santos-Gómez, Ana, Locubiche, Sílvia, Gómez de Salazar, Macarena, García-Díaz, Roberto, Gratacòs-Batlle, Esther, Ramos-Vicente, David, Chu-Van, Emeline, Colsch, Benoit, Fernández-Dueñas, Víctor, Ciruela, Francisco, Bayés, Àlex, Sindreu, Carlos, López-Sala, Anna, García-Cazorla, Àngels, Altafaj, Xavier
Published in Science signaling (18.06.2019)
Published in Science signaling (18.06.2019)
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Journal Article
Decreased striatal adenosine A2A-dopamine D2 receptor heteromerization in schizophrenia
Valle-León, Marta, Callado, Luis F., Aso, Ester, Cajiao-Manrique, María M., Sahlholm, Kristoffer, López-Cano, Marc, Soler, Concepció, Altafaj, Xavier, Watanabe, Masahiko, Ferré, Sergi, Fernández-Dueñas, Víctor, Menchón, José M., Ciruela, Francisco
Published in Neuropsychopharmacology (New York, N.Y.) (01.02.2021)
Published in Neuropsychopharmacology (New York, N.Y.) (01.02.2021)
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Journal Article
GENERATION AND PHENOTYPIC CHARACTERIZATION OF ZEBRAFISH MODELS OF GRIN-RELATED DISORDERS, A DEVELOPMENTAL ENCEPHALOPATHY
Serra, Sílvia Locubiche, Olivella, Mireia, Santis, Flavia De, Altafaj, Xavier, Rubbini, Davide, Terriente, Javier
Published in IBRO neuroscience reports (01.10.2023)
Published in IBRO neuroscience reports (01.10.2023)
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Journal Article
Comprehensive Analysis of GABAA-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease
Oyarzabal, Alfonso, Xiol, Clara, Castells, Alba Aina, Grau, Cristina, O’Callaghan, Mar, Fernández, Guerau, Alcántara, Soledad, Pineda, Mercè, Armstrong, Judith, Altafaj, Xavier, García-Cazorla, Angels
Published in International journal of molecular sciences (14.01.2020)
Published in International journal of molecular sciences (14.01.2020)
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Journal Article
Normalization of Dyrk1A expression by AAV2/1-shDyrk1A attenuates hippocampal-dependent defects in the Ts65Dn mouse model of Down syndrome
Altafaj, Xavier, Martín, Eduardo D, Ortiz-Abalia, Jon, Valderrama, Aitana, Lao-Peregrín, Cristina, Dierssen, Mara, Fillat, Cristina
Published in Neurobiology of disease (01.04.2013)
Published in Neurobiology of disease (01.04.2013)
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Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum
Santos-Gómez, Ana, Miguez-Cabello, Federico, Juliá-Palacios, Natalia, García-Navas, Deyanira, Soto-Insuga, Víctor, García-Peñas, Juan J, Fuentes, Patricia, Ibáñez-Micó, Salvador, Cuesta, Laura, Cancho, Ramón, Andreo-Lillo, Patricia, Gutiérrez-Aguilar, Gema, Alonso-Luengo, Olga, Málaga, Ignacio, Hedrera-Fernández, Antonio, García-Cazorla, Àngels, Soto, David, Olivella, Mireia, Altafaj, Xavier
Published in International journal of molecular sciences (23.11.2021)
Published in International journal of molecular sciences (23.11.2021)
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Journal Article
COMPREHENSIVE DELINEATION AND PRECISION MEDICINE OF GRIN-RELATED NEURODEVELOPMENTAL DISORDERS, A PRIMARY DISTURBANCE OF THE NMDA RECEPTOR
Olivella, Mireia, Santos-Gómez, Ana, Juliá-Palacios, Natalia, Serra, Sílvia Locubiche, Soto, David, García-Cazorla, Àngels, Altafaj, Xavier
Published in IBRO neuroscience reports (01.10.2023)
Published in IBRO neuroscience reports (01.10.2023)
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Journal Article
COMPUTATIONAL TOOLS TOWARDS GRIN VARIANTS STRATIFICATION
Altafaj, Xavier, Santos-Gómez, Ana, García-Recio, Adrián, Miguez-Cabello, Federico, Soto, David, Olivella, Mireia
Published in IBRO neuroscience reports (01.10.2023)
Published in IBRO neuroscience reports (01.10.2023)
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Journal Article
An integrated workflow for enhanced taxonomic and functional coverage of the mouse fecal metaproteome
Nalpas, Nicolas, Hoyles, Lesley, Anselm, Viktoria, Ganief, Tariq, Martinez-Gili, Laura, Grau, Cristina, Droste-Borel, Irina, Davidovic, Laetitia, Altafaj, Xavier, Dumas, Marc-Emmanuel, Macek, Boris
Published in Gut microbes (01.01.2021)
Published in Gut microbes (01.01.2021)
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Journal Article
A primate-specific short GluN2A-NMDA receptor isoform is expressed in the human brain
Warming, Hannah, Pegasiou, Chrysia-Maria, Pitera, Aleksandra P, Kariis, Hanna, Houghton, Steven D, Kurbatskaya, Ksenia, Ahmed, Aminul, Grundy, Paul, Vajramani, Girish, Bulters, Diederik, Altafaj, Xavier, Deinhardt, Katrin, Vargas-Caballero, Mariana
Published in Molecular brain (04.07.2019)
Published in Molecular brain (04.07.2019)
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Journal Article
DYRK1A autophosphorylation on serine residue 520 modulates its kinase activity via 14-3-3 binding
Alvarez, Mónica, Altafaj, Xavier, Aranda, Sergi, de la Luna, Susana
Published in Molecular biology of the cell (01.04.2007)
Published in Molecular biology of the cell (01.04.2007)
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Journal Article
Zinc transporter-1 concentrates at the postsynaptic density of hippocampal synapses
Sindreu, Carlos, Bayés, Álex, Altafaj, Xavier, Pérez-Clausell, Jeús
Published in Molecular brain (07.03.2014)
Published in Molecular brain (07.03.2014)
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Journal Article
Interaction between the Dihydropyridine Receptor Ca2+Channel$\beta-Subunit$and Ryanodine Receptor Type 1 Strengthens Excitation-Contraction Coupling
Weijun Cheng, Altafaj, Xavier, Ronjat, Michel, Coronado, Roberto
Published in Proceedings of the National Academy of Sciences - PNAS (27.12.2005)
Published in Proceedings of the National Academy of Sciences - PNAS (27.12.2005)
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Journal Article
Glutamate receptor mutations in psychiatric and neurodevelopmental disorders
Soto, David, Altafaj, Xavier, Sindreu, Carlos, Bayés, Àlex
Published in Communicative & integrative biology (30.01.2014)
Published in Communicative & integrative biology (30.01.2014)
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Journal Article
DYRK1A-mediated phosphorylation of GluN2A at Ser1048 regulates the surface expression and channel activity of GluN1/GluN2A receptors
Grau, Cristina, Arató, Krisztina, Fernández-Fernández, José M., Valderrama, Aitana, Sindreu, Carlos, Fillat, Cristina, Ferrer, Isidre, de la Luna, Susana, Altafaj, Xavier
Published in Frontiers in cellular neuroscience (17.10.2014)
Published in Frontiers in cellular neuroscience (17.10.2014)
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Journal Article
Cavβ-subunit displacement is a key step to induce the reluctant state of P/Q calcium channels by direct G protein regulation
Sandoz, Guillaume, Lopez-Gonzalez, Ignacio, Grunwald, Didier, Bichet, Delphine, Altafaj, Xavier, Weiss, Norbert, Ronjat, Michel, Dupuis, Alain, De Waard, Michel
Published in Proceedings of the National Academy of Sciences - PNAS (20.04.2004)
Published in Proceedings of the National Academy of Sciences - PNAS (20.04.2004)
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