Works by Altafaj, Xavier

Results: 16

Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission.

Published in:

Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 551, doi. 10.1002/jimd.12689

By:

Illescas, Sofía;
Diaz‐Osorio, Yaiza;
Serradell, Anna;
Toro‐Soria, Lucía;
Musokhranova, Uliana;
Juliá‐Palacios, Natalia;
Ribeiro‐Constante, Juliana;
Altafaj, Xavier;
Olivella, Mireia;
O'Callaghan, Mar;
Darling, Alejandra;
Armstrong, Judith;
Artuch, Rafael;
García‐Cazorla, Àngels;
Oyarzábal, Alfonso

Publication type:

Article

Cover, Volume 42, Issue 1.

Published in:

Human Mutation, 2021, v. 42, n. 1, p. i, doi. 10.1002/humu.24161

By:

García‐Recio, Adrián;
Santos‐Gómez, Ana;
Soto, David;
Julia‐Palacios, Natalia;
García‐Cazorla, Àngels;
Altafaj, Xavier;
Olivella, Mireia

Publication type:

Article

GRIN database: A unified and manually curated repertoire of GRIN variants.

Published in:

Human Mutation, 2021, v. 42, n. 1, p. 8, doi. 10.1002/humu.24141

By:

García‐Recio, Adrián;
Santos‐Gómez, Ana;
Soto, David;
Julia‐Palacios, Natalia;
García‐Cazorla, Àngels;
Altafaj, Xavier;
Olivella, Mireia

Publication type:

Article

Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 24, p. 3859, doi. 10.1093/hmg/ddaa220

By:

Santos-Gómez, Ana;
Miguez-Cabello, Federico;
García-Recio, Adrián;
Locubiche-Serra, Sílvia;
García-Díaz, Roberto;
Soto-Insuga, Víctor;
Guerrero-López, Rosa;
Juliá-Palacios, Natalia;
Ciruela, Francisco;
García-Cazorla, Àngels;
Soto, David;
Olivella, Mireia;
Altafaj, Xavier

Publication type:

Article

Metabotropic glutamate type 5 receptor requires contactin-associated protein 1 to control memory formation.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 20, p. 3528, doi. 10.1093/hmg/ddy264

By:

Morató, Xavier;
Luján, Rafael;
Gonçalves, Nélio;
Watanabe, Masahiko;
Altafaj, Xavier;
Carvalho, Ana Luísa;
Fernández-Dueñas, Víctor;
Cunha, Rodrigo A;
Ciruela, Francisco

Publication type:

Article

Identification of homologous GluN subunits variants accelerates GRIN variants stratification.

Published in:

Frontiers in Cellular Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fncel.2022.998719

By:

Santos-Gómez, Ana;
García-Recio, Adrián;
Miguez-Cabello, Federico;
Soto, David;
Altafaj, Xavier;
Olivella, Mireia

Publication type:

Article

A primate-specific short GluN2A-NMDA receptor isoform is expressed in the human brain.

Published in:

Molecular Brain, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13041-019-0485-9

By:

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

Publication type:

Article

An integrated workflow for enhanced taxonomic and functional coverage of the mouse fecal metaproteome.

Published in:

Gut Microbes, 2021, v. 13, n. 1, p. 1, doi. 10.1080/19490976.2021.1994836

By:

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

Publication type:

Article

Adenosine A1-A2A Receptor Heteromer as a Possible Target for Early-Onset Parkinson's Disease.

Published in:

Frontiers in Neuroscience, 2017, p. 1, doi. 10.3389/fnins.2017.00652

By:

Fernández-Dueñas, Víctor;
Pérez-Arévalo, Andrea;
Altafaj, Xavier;
Ferré, Sergi;
Ciruela, Francisco

Publication type:

Article

Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 23, p. 12656, doi. 10.3390/ijms222312656

By:

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

Publication type:

Article

Allosteric Interactions between Adenosine A 2A and Dopamine D 2 Receptors in Heteromeric Complexes: Biochemical and Pharmacological Characteristics, and Opportunities for PET Imaging.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 1719, doi. 10.3390/ijms22041719

By:

Prasad, Kavya;
de Vries, Erik F. J.;
Elsinga, Philip H.;
Dierckx, Rudi A. J. O.;
van Waarde, Aren;
Altafaj, Xavier

Publication type:

Article

Comprehensive Analysis of GABAA-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 2, p. 1, doi. 10.3390/ijms21020518

By:

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

Publication type:

Article

Phosphoproteomic Alterations of Ionotropic Glutamate Receptors in the Hippocampus of the Ts65Dn Mouse Model of Down Syndrome.

Published in:

Frontiers in Molecular Neuroscience, 2018, p. N.PAG, doi. 10.3389/fnmol.2018.00226

By:

Gómez de Salazar, Macarena;
Grau, Cristina;
Ciruela, Francisco;
Altafaj, Xavier

Publication type:

Article

Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain ), a murine model of Down’s syndrome.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 18, p. 1915, doi. 10.1093/hmg/10.18.1915

By:

Altafaj, Xavier;
Dierssen, Mara;
Baamonde, Carmela;
Martí, Eulàlia;
Guimerà, Jordi;
Oset, Marta;
González, Juan Ramón;
Flórez, Jesús;
Fillat, Cristina;
Estivill, Xavier

Publication type:

Article

DYRK1A-mediated phosphorylation of GluN2A at Ser1048 regulates the surface expression and channel activity of GluN1/GluN2A receptors.

Published in:

Frontiers in Cellular Neuroscience, 2014, v. 8, p. 1, doi. 10.3389/fncel.2014.00331

By:

Grau, Cristina;
Arató, Krisztina;
Fernàndez-Fernàndez, José M.;
Valderrama, Aitana;
Sindreu, Carlos;
Fillat, Cristina;
Ferrer, Isidre;
de la Luna, Susana;
Altafaj, Xavier

Publication type:

Article

Zinc transporter-1 concentrates at the postsynaptic density of hippocampal synapses.

Published in:

Molecular Brain, 2014, v. 7, n. 1, p. 1, doi. 10.1186/1756-6606-7-16

By:

Sindreu, Carlos;
Bayés, Àlex;
Altafaj, Xavier;
Pérez-Clausell, Jeús

Publication type:

Article

Works by Altafaj, Xavier

Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission.

Cover, Volume 42, Issue 1.

GRIN database: A unified and manually curated repertoire of GRIN variants.

Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function.

Metabotropic glutamate type 5 receptor requires contactin-associated protein 1 to control memory formation.

Identification of homologous GluN subunits variants accelerates GRIN variants stratification.

A primate-specific short GluN2A-NMDA receptor isoform is expressed in the human brain.

An integrated workflow for enhanced taxonomic and functional coverage of the mouse fecal metaproteome.

Adenosine A<sub>1</sub>-A<sub>2A</sub> Receptor Heteromer as a Possible Target for Early-Onset Parkinson's Disease.

Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum.

Allosteric Interactions between Adenosine A 2A and Dopamine D 2 Receptors in Heteromeric Complexes: Biochemical and Pharmacological Characteristics, and Opportunities for PET Imaging.

Comprehensive Analysis of GABA<sub>A</sub>-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease.

Phosphoproteomic Alterations of Ionotropic Glutamate Receptors in the Hippocampus of the Ts65Dn Mouse Model of Down Syndrome.

Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain ), a murine model of Down’s syndrome.

DYRK1A-mediated phosphorylation of GluN2A at Ser<sup>1048</sup> regulates the surface expression and channel activity of GluN1/GluN2A receptors.

Zinc transporter-1 concentrates at the postsynaptic density of hippocampal synapses.