The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration
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The Intracellular Loop of the Glycine Receptor: It's not all about the SizeA Recombinant Human Pluripotent Stem Cell Line Stably Expressing Halide-Sensitive YFP-I152L for GABAAR and GlyR-Targeted High-Throughput Drug Screening and Toxicity Testing.Differential protein structural disturbances and suppression of assembly partners produced by nonsense GABRG2 epilepsy mutations: implications for disease phenotypic heterogeneity.Exploring Human Diseases and Biological Mechanisms by Protein Structure Prediction and Modeling.Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 miceIn Silico Prediction of Gamma-Aminobutyric Acid Type-A Receptors Using Novel Machine-Learning-Based SVM and GBDT ApproachesNovel GABRG2 mutations cause familial febrile seizuresAltered Channel Conductance States and Gating of GABAA Receptors by a Pore Mutation Linked to Dravet Syndrome.Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome.Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsyHeat induced temperature dysregulation and seizures in Dravet Syndrome/GEFS+ Gabrg2+/Q390X mice.Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation.Missense Is No Nonsense for Epileptic Encephalopathies.Altered GABAA receptor expression in brainstem nuclei and SUDEP in Gabrg2(+/Q390X) mice associated with epileptic encephalopathy.Age-dependent shift in macrophage polarisation causes inflammation-mediated degeneration of enteric nervous system.Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.Genetic and Molecular Regulation of Extrasynaptic GABA-A Receptors in the Brain: Therapeutic Insights for Epilepsy.Defects at the crossroads of GABAergic signaling in generalized genetic epilepsies.The role of charged residues in independent glycine receptor folding domains for intermolecular interactions and ion channel function.Overexpressing wild-type γ2 subunits rescued the seizure phenotype in Gabrg2+/Q390X Dravet syndrome mice.De novo GABRG2 mutations associated with epileptic encephalopathies.Enhanced interlaminar excitation or reduced superficial layer inhibition in neocortex generates different spike-and-wave-like electrographic events in vitro.Impaired Glycine Receptor Trafficking in Neurological Diseases
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P2860
The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration
description
2015 nî lūn-bûn
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2015 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2015年の論文
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2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
The human epilepsy mutation GA ...... mulation and neurodegeneration
@ast
The human epilepsy mutation GA ...... mulation and neurodegeneration
@en
The human epilepsy mutation GA ...... mulation and neurodegeneration
@nl
type
label
The human epilepsy mutation GA ...... mulation and neurodegeneration
@ast
The human epilepsy mutation GA ...... mulation and neurodegeneration
@en
The human epilepsy mutation GA ...... mulation and neurodegeneration
@nl
prefLabel
The human epilepsy mutation GA ...... mulation and neurodegeneration
@ast
The human epilepsy mutation GA ...... mulation and neurodegeneration
@en
The human epilepsy mutation GA ...... mulation and neurodegeneration
@nl
P2093
P2860
P3181
P356
P1433
P1476
The human epilepsy mutation GA ...... mulation and neurodegeneration
@en
P2093
Chengwen Zhou
Jing-Qiong Kang
Robert L Macdonald
Wangzhen Shen
P2860
P2888
P304
P3181
P356
10.1038/NN.4024
P407
P577
2015-05-25T00:00:00Z
P6179
1044870250