Associated Papers
Improving Proteostasis of Trafficking-Deficient GABAA Receptor Variants by Activating IRE1.
Fu X et al.
Acs Chemical Neuroscience, 2025
Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons.
Arslan A et al.
Journal of Visualized Experiments : Jove, 2025
Proteostasis regulation of GABAA receptors in neuronal function and disease.
Chen X et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2025
Pharmacological chaperones restore proteostasis of epilepsy-associated GABAA receptor variants.
Wang YJ et al.
Pharmacological Research, 2024
Pathogenicity Prediction of GABAA Receptor Missense Variants.
Wang YJ et al.
Biorxiv : the Preprint Server for Biology, 2023
Pathogenic variants of human GABRA1 gene associated with epilepsy: A computational approach.
Arslan A
Heliyon, 2023
Pharmacological chaperones restore proteostasis of epilepsy-associated GABAA receptor variants.
Wang YJ et al.
Biorxiv : the Preprint Server for Biology, 2023
Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Maillard PY et al.
Epilepsia, 2022
The endoplasmic reticulum membrane complex promotes proteostasis of GABAA receptors.
Whittsette AL et al.
Iscience, 2022
Pharmacological activation of ATF6 remodels the proteostasis network to rescue pathogenic GABAA receptors.
Wang M et al.
Cell & Bioscience, 2022
Distinct Functional Alterations and Therapeutic Options of Two Pathological De Novo Variants of the T292 Residue of GABRA1 Identified in Children with Epileptic Encephalopathy and Neurodevelopmental Disorders.
Chen W et al.
International Journal of Molecular Sciences, 2022
Proteostasis Regulators Restore Function of Epilepsy-Associated GABAA Receptors.
Di XJ et al.
Cell Chemical Biology, 2021
Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy.
Bai YF et al.
Molecular Brain, 2019
Genetic and epigenetic mechanisms of epilepsy: a review.
Chen T et al.
Neuropsychiatric Disease and Treatment, 2017
Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.
Janve VS et al.
Annals of Neurology, 2016
De novo GABRA1 mutations in Ohtahara and West syndromes.
Kodera H et al.
Epilepsia, 2016
L-type Calcium Channel Blockers Enhance Trafficking and Function of Epilepsy-associated α1(D219N) Subunits of GABA(A) Receptors.
Han DY et al.
Acs Chemical Biology, 2015
A novel variant in GABRB2 associated with intellectual disability and epilepsy.
Srivastava S et al.
American Journal of Medical Genetics. Part A, 2014
Single-cell genetic expression of mutant GABAA receptors causing Human genetic epilepsy alters dendritic spine and GABAergic bouton formation in a mutation-specific manner.
Lachance-Touchette P et al.
Frontiers in Cellular Neuroscience, 2014
Altered cortical GABAA receptor composition, physiology, and endocytosis in a mouse model of a human genetic absence epilepsy syndrome.
Zhou C et al.
The Journal of Biological Chemistry, 2013
mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies.
Macdonald RL et al.
Epilepsia, 2012
Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.
Lachance-Touchette P et al.
The European Journal of Neuroscience, 2011