Publications by authors named "Xavier Altafaj"

Claim this Profile
E
EAR-20 peptide, a novel NMDA receptor positive allosteric modulator.
Roberto García-Díaz, Aida Castellanos, Federico Miguez-Cabello, Javier Picañol, Anna Priscil la Pérez-González, Xavier Altafaj

Front Pharmacol· December 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Missense variants pathogenicity annotation from homologous proteins.
Gabriel Ruiz-Alías, Sergi Soldevila, Xavier Altafaj, Arnau Cordomí, Mireia Olivella

Bioinformatics· May 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission.
Sofía Illescas, Yaiza Diaz-Osorio, Anna Serradell, Lucía Toro-Soria, Uliana Musokhranova, Xavier Altafaj

J Inherit Metab Dis· May 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.
Natalia Juliá-Palacios, Mireia Olivella, Mariya Sigatullina Bondarenko, Salvador Ibáñez-Micó, Beatriz Muñoz-Cabello, Xavier Altafaj

Brain· May 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Identification of homologous GluN subunits variants accelerates variants stratification.
Ana Santos-Gómez, Adrián García-Recio, Federico Miguez-Cabello, David Soto, Xavier Altafaj

Front Cell Neurosci· December 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
High Resolution Ambient MS Imaging of Biological Samples by Desorption Electro-Flow Focussing Ionization.
Vincen Wu, Jocelyn Tillner, Emrys Jones, James S McKenzie, Dipa Gurung, Xavier Altafaj

Anal Chem· July 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
An integrated workflow for enhanced taxonomic and functional coverage of the mouse fecal metaproteome.
Nicolas Nalpas, Lesley Hoyles, Viktoria Anselm, Tariq Ganief, Laura Martinez-Gili, Xavier Altafaj

Gut Microbes· January 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Paradigmatic De Novo Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum.
Ana Santos-Gómez, Federico Miguez-Cabello, Natalia Juliá-Palacios, Deyanira García-Navas, Víctor Soto-Insuga, Xavier Altafaj

Int J Mol Sci· November 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Decreased striatal adenosine A-dopamine D receptor heteromerization in schizophrenia.
Marta Valle-León, Luis F Callado, Ester Aso, María M Cajiao-Manrique, Kristoffer Sahlholm, Xavier Altafaj

Neuropsychopharmacology· February 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function.
Ana Santos-Gómez, Federico Miguez-Cabello, Adrián García-Recio, Sílvia Locubiche-Serra, Roberto García-Díaz, Xavier Altafaj

Hum Mol Genet· February 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
GRIN database: A unified and manually curated repertoire of GRIN variants.
Adrián García-Recio, Ana Santos-Gómez, David Soto, Natalia Julia-Palacios, Àngels García-Cazorla, Xavier Altafaj

Hum Mutat· January 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Comprehensive Analysis of GABA-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease.
Alfonso Oyarzabal, Clara Xiol, Alba Aina Castells, Cristina Grau, Mar O'Callaghan, Xavier Altafaj

Int J Mol Sci· January 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A primate-specific short GluN2A-NMDA receptor isoform is expressed in the human brain.
Hannah Warming, Chrysia-Maria Pegasiou, Aleksandra P Pitera, Hanna Kariis, Steven D Houghton, Xavier Altafaj

Mol Brain· July 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
L-Serine dietary supplementation is associated with clinical improvement of loss-of-function -related pediatric encephalopathy.
David Soto, Mireia Olivella, Cristina Grau, Judith Armstrong, Clara Alcon, Xavier Altafaj

Sci Signal· June 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Metabotropic glutamate type 5 receptor requires contactin-associated protein 1 to control memory formation.
Xavier Morató, Rafael Luján, Nélio Gonçalves, Masahiko Watanabe, Xavier Altafaj

Hum Mol Genet· October 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Phosphoproteomic Alterations of Ionotropic Glutamate Receptors in the Hippocampus of the Ts65Dn Mouse Model of Down Syndrome.
Macarena Gómez de Salazar, Cristina Grau, Francisco Ciruela, Xavier Altafaj

Front Mol Neurosci· July 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Rett-like Severe Encephalopathy Caused by a De Novo GRIN2B Mutation Is Attenuated by D-serine Dietary Supplement.
David Soto, Mireia Olivella, Cristina Grau, Judith Armstrong, Clara Alcon, Xavier Altafaj

Biol Psychiatry· January 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Adenosine A-A Receptor Heteromer as a Possible Target for Early-Onset Parkinson's Disease.
Víctor Fernández-Dueñas, Andrea Pérez-Arévalo, Xavier Altafaj, Sergi Ferré, Francisco Ciruela

Front Neurosci· November 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The antigen-binding fragment of human gamma immunoglobulin prevents amyloid β-peptide folding into β-sheet to form oligomers.
Victòria Valls-Comamala, Biuse Guivernau, Jaume Bonet, Marta Puig, Alex Perálvarez-Marín, Xavier Altafaj

Oncotarget· June 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Glutamatergic stimulation induces GluN2B translation by the nitric oxide-Heme-Regulated eIF2α kinase in cortical neurons.
Eva Ramos-Fernández, Marta Tajes, Gerard Ill-Raga, Lina Vargas, Arnau Busquets-García, Xavier Altafaj

Oncotarget· September 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
DYRK1A-mediated phosphorylation of GluN2A at Ser(1048) regulates the surface expression and channel activity of GluN1/GluN2A receptors.
Cristina Grau, Krisztina Arató, José M Fernández-Fernández, Aitana Valderrama, Carlos Sindreu, Xavier Altafaj

Front Cell Neurosci· November 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
Z
Zinc transporter-1 concentrates at the postsynaptic density of hippocampal synapses.
Carlos Sindreu, Álex Bayés, Xavier Altafaj, Jeús Pérez-Clausell

Mol Brain· March 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Glutamate receptor mutations in psychiatric and neurodevelopmental disorders.
David Soto, Xavier Altafaj, Carlos Sindreu, Alex Bayés

Commun Integr Biol· January 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Normalization of Dyrk1A expression by AAV2/1-shDyrk1A attenuates hippocampal-dependent defects in the Ts65Dn mouse model of Down syndrome.
Xavier Altafaj, Eduardo D Martín, Jon Ortiz-Abalia, Aitana Valderrama, Cristina Lao-Peregrín

Neurobiol Dis· April 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Gene therapy for Down syndrome.
Cristina Fillat, Xavier Altafaj

Prog Brain Res· September 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis