Associated Papers
A pathogenic AMPA receptor gating mutation disrupts synapse-mitochondrion axis and stalls synapse maturation.
Xu J et al.
Biorxiv : the Preprint Server for Biology, 2026
Rescuing Neurodevelopmental Deficits in AMPA Receptor Gain-of-Function Mutant.
Chen CM et al.
Biorxiv : the Preprint Server for Biology, 2025
Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803.
Sjøstrøm E et al.
Clinical Genetics, 2025
Targeted Therapy of GRIA1-Related Epilepsy and Intellectual Disability With Perampanel: A Case Report and Literature Review.
Cesaroni E et al.
Neurology. Genetics, 2025
Exploring the Landscape of Pre- and Post-Synaptic Pediatric Disorders with Epilepsy: A Narrative Review on Molecular Mechanisms Involved.
Scorrano G et al.
International Journal of Molecular Sciences, 2024
Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant.
Tvergaard NK et al.
Clinical Genetics, 2024
Differential regulation of tetramerization of the AMPA receptor glutamate-gated ion channel by auxiliary subunits.
Certain N et al.
The Journal of Biological Chemistry, 2023
Increased NMDARs in neurons and glutamine synthetase in astrocytes underlying autistic-like behaviors of Gabrb1-/- mice.
Wang J et al.
Iscience, 2023
Differential regulation of α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic Acid (AMPA) receptor tetramerization by auxiliary subunits.
Certain N et al.
Biorxiv : the Preprint Server for Biology, 2023
Cerebellum and neurodevelopmental disorders: RORα is a unifying force.
Ribeiro S et al.
Frontiers in Cellular Neuroscience, 2023
Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease-relevant pathologies.
Murtaza N et al.
Cell Reports, 2022
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.
Levchenko O et al.
International Journal of Molecular Sciences, 2022
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome.
Ismail V et al.
American Journal of Human Genetics, 2022
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Nassir N et al.
Human Genomics, 2021
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.
Yan H et al.
American Journal of Human Genetics, 2019
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V et al.
Nature Communications, 2019
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
Geisheker MR et al.
Nature Neuroscience, 2017
The Inhibitory Effect of α/β-Hydrolase Domain-Containing 6 (ABHD6) on the Surface Targeting of GluA2- and GluA3-Containing AMPA Receptors.
Wei M et al.
Frontiers in Molecular Neuroscience, 2017
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Garofalo A et al.
Genome Medicine, 2016
Assembly and stoichiometry of the AMPA receptor and transmembrane AMPA receptor regulatory protein complex.
Kim KS et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2010