Works by Altafaj, Xavier
Results: 16
Cover, Volume 42, Issue 1.
- Published in:
- Human Mutation, 2021, v. 42, n. 1, p. i, doi. 10.1002/humu.24161
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GRIN database: A unified and manually curated repertoire of GRIN variants.
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- Human Mutation, 2021, v. 42, n. 1, p. 8, doi. 10.1002/humu.24141
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- Article
DYRK1A-mediated phosphorylation of GluN2A at Ser<sup>1048</sup> regulates the surface expression and channel activity of GluN1/GluN2A receptors.
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- Frontiers in Cellular Neuroscience, 2014, v. 8, p. 1, doi. 10.3389/fncel.2014.00331
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Zinc transporter-1 concentrates at the postsynaptic density of hippocampal synapses.
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- Molecular Brain, 2014, v. 7, n. 1, p. 1, doi. 10.1186/1756-6606-7-16
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Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain ), a murine model of Down’s syndrome.
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- Human Molecular Genetics, 2001, v. 10, n. 18, p. 1915, doi. 10.1093/hmg/10.18.1915
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Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 23, p. 12656, doi. 10.3390/ijms222312656
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Allosteric Interactions between Adenosine A 2A and Dopamine D 2 Receptors in Heteromeric Complexes: Biochemical and Pharmacological Characteristics, and Opportunities for PET Imaging.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 1719, doi. 10.3390/ijms22041719
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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.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 2, p. 1, doi. 10.3390/ijms21020518
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Identification of homologous GluN subunits variants accelerates GRIN variants stratification.
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- Frontiers in Cellular Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fncel.2022.998719
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Adenosine A<sub>1</sub>-A<sub>2A</sub> Receptor Heteromer as a Possible Target for Early-Onset Parkinson's Disease.
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- Frontiers in Neuroscience, 2017, p. 1, doi. 10.3389/fnins.2017.00652
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Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission.
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- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 551, doi. 10.1002/jimd.12689
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Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function.
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- Human Molecular Genetics, 2020, v. 29, n. 24, p. 3859, doi. 10.1093/hmg/ddaa220
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Metabotropic glutamate type 5 receptor requires contactin-associated protein 1 to control memory formation.
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- Human Molecular Genetics, 2018, v. 27, n. 20, p. 3528, doi. 10.1093/hmg/ddy264
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A primate-specific short GluN2A-NMDA receptor isoform is expressed in the human brain.
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- Molecular Brain, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13041-019-0485-9
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Phosphoproteomic Alterations of Ionotropic Glutamate Receptors in the Hippocampus of the Ts65Dn Mouse Model of Down Syndrome.
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- Frontiers in Molecular Neuroscience, 2018, p. N.PAG, doi. 10.3389/fnmol.2018.00226
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An integrated workflow for enhanced taxonomic and functional coverage of the mouse fecal metaproteome.
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- Gut Microbes, 2021, v. 13, n. 1, p. 1, doi. 10.1080/19490976.2021.1994836
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