Evidence for effect of l-serine, a novel therapy for GRIN2B-related neurodevelopmental disorder
den Hollander, B., Veenvliet, A.R.J., Rothuizen-Lindenschot, M., van Essen, P., Peters, G., Santos-Gómez, A., Olivella, M., Altafaj, X., Brands, M.M., Jacobs, B.A.W., van Karnebeek, C.D.
Published in Molecular genetics and metabolism (01.03.2023)
Published in Molecular genetics and metabolism (01.03.2023)
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Diseases of the synaptic vesicle: a potential new group of neurometabolic disorders affecting neurotransmission
Cortès-Saladelafont, EMD, Tristán-Noguero, A, Artuch, R., MD, PhD, Altafaj, X., PhD, Bayès, A., PhD, García-Cazorla, A., MD, PhD
Published in Seminars in pediatric neurology (01.11.2016)
Published in Seminars in pediatric neurology (01.11.2016)
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Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome
ALTAFAJ, Xavier, DIERSSEN, Mara, ESTIVILL, Xavier, BAAMONDE, Carmela, MARTI, Eulalia, VISA, Joana, GUIMERA, Jordi, OSET, Marta, GONZALEZ, Juan Ramon, FLOREZ, Jesus, FILLAT, Cristina
Published in Human molecular genetics (01.09.2001)
Published in Human molecular genetics (01.09.2001)
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Increased NR2A expression and prolonged decay of NMDA-induced calcium transient in cerebellum of TgDyrk1A mice, a mouse model of Down syndrome
Altafaj, X, Ortiz-Abalia, J, Fernández, M, Potier, M.C, Laffaire, J, Andreu, N, Dierssen, M, González-García, C, Ceña, V, Martí, E, Fillat, C
Published in Neurobiology of disease (01.12.2008)
Published in Neurobiology of disease (01.12.2008)
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Motor phenotypic alterations in TgDyrk1a transgenic mice implicate DYRK1A in Down syndrome motor dysfunction
Martı́nez de Lagrán, M, Altafaj, X, Gallego, X, Martı́, E, Estivill, X, Sahún, I, Fillat, C, Dierssen, M
Published in Neurobiology of disease (01.02.2004)
Published in Neurobiology of disease (01.02.2004)
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Identification of key genes involved in Down's syndrome pathogenesis by gene therapy
Fillat, C, Bofill-De Ros, X, Santos, M, Martín, E.D, Andreu, N, Villanueva, E, d’Amico, D, Dierssen, M, Altafaj, X
Published in International medical review on down syndrome (01.05.2014)
Published in International medical review on down syndrome (01.05.2014)
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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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Decreased striatal adenosine A 2A -dopamine D 2 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.) (2021)
Published in Neuropsychopharmacology (New York, N.Y.) (2021)
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Targeting Dyrk1A with AAVshRNA Attenuates Motor Alterations in TgDyrk1A, a Mouse Model of Down Syndrome
Ortiz-Abalia, Jon, Sahún, Ignasi, Altafaj, Xavier, Andreu, Núria, Estivill, Xavier, Dierssen, Mara, Fillat, Cristina
Published in American journal of human genetics (01.10.2008)
Published in American journal of human genetics (01.10.2008)
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Journal Article
Dyrk1A expression pattern supports specific roles of this kinase in the adult central nervous system
Martı́, Eulàlia, Altafaj, Xavier, Dierssen, Mara, de la Luna, Susana, Fotaki, Vassiliki, Alvarez, Mónica, Pérez-Riba, Mercè, Ferrer, Isidro, Estivill, Xavier
Published in Brain research (28.02.2003)
Published in Brain research (28.02.2003)
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Maurocalcine and Domain A of the II-III Loop of the Dihydropyridine Receptor Ca sub(v) 1.1 Subunit Share Common Binding Sites on the Skeletal Ryanodine Receptor
Altafaj, X, Cheng, W, Esteve, E, Urbani, J, Grunwald, D, Sabatier, J-M, Coronado, R, De Waard, M, Ronjat, M
Published in The Journal of biological chemistry (01.02.2005)
Published in The Journal of biological chemistry (01.02.2005)
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Ca sub(v) beta -subunit displacement is a key step to induce the reluctant state of P/Q calcium channels by direct G protein regulation
Sandoz, G, Lopez-Gonzalez, I, Grunwald, D, Bichet, D, Altafaj, X, Weiss, N, Ronjat, M, Dupuis, A, De Waard, M
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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Cav -subunit displacement is a key step to induce the reluctant state of P/Q calcium channels by direct G protein regulation
Sandoz, G., Lopez-Gonzalez, I., Grunwald, D., Bichet, D., Altafaj, X., Weiss, N., Ronjat, M., Dupuis, A., de Waard, M.
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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Journal Article
Cloning and Characterization of DYRK1B, a Novel Member of the DYRK Family of Protein Kinases
Leder, Susanne, Weber, Yvonne, Altafaj, Xavier, Estivill, Xavier, Joost, Hans-Georg, Becker, Walter
Published in Biochemical and biophysical research communications (19.01.1999)
Published in Biochemical and biophysical research communications (19.01.1999)
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A store-operated Ca super(2) super(+) influx activated in response to the depletion of thapsigargin-sensitive Ca super(2) super(+) stores is developmentally regulated in embryonic cortical neurons from mice
Bouron, A, Altafaj, X, Boisseau, S, De Waard, M
Published in Brain research. Developmental brain research (08.09.2005)
Published in Brain research. Developmental brain research (08.09.2005)
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Critical Amino Acid Residues Determine the Binding Affinity and the Ca super(2) super(+) Release Efficacy of Maurocalcine in Skeletal Muscle Cells
Esteve, E, Smida-Rezgui, S, Sarkozi, S, Szegedi, C, Regaya, I, Chen, L, Altafaj, X, Rochat, H, Allen, P, Pessah, IN, Marty, I, Sabatier, J-M, Jona, I, De Waard, M, Ronjat, M
Published in The Journal of biological chemistry (19.09.2003)
Published in The Journal of biological chemistry (19.09.2003)
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