GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors - Wikidata - awgldk - TriplyDB

GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors

GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors

http://www.wikidata.org/entity/Q34074424

about

The developmental evolution of the seizure phenotype and cortical inhibition in mouse models of juvenile myoclonic epilepsy.Decreased viability and absence-like epilepsy in mice lacking or deficient in the GABAA receptor α1 subunit.Prioritization of epilepsy associated candidate genes by convergent analysis.mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies.The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1 A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy Combining valosin-containing protein (VCP) inhibition and suberanilohydroxamic acid (SAHA) treatment additively enhances the folding, trafficking, and function of epilepsy-associated γ-aminobutyric acid, type A (GABAA) receptors Altered GABA signaling in early life epilepsies.Dodecyl maltopyranoside enabled purification of active human GABA type A receptors for deep and direct proteomic sequencing Grp94 Protein Delivers γ-Aminobutyric Acid Type A (GABAA) Receptors to Hrd1 Protein-mediated Endoplasmic Reticulum-associated Degradation.Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation Altered cortical GABAA receptor composition, physiology, and endocytosis in a mouse model of a human genetic absence epilepsy syndrome.Agonist-dependent endocytosis of γ-aminobutyric acid type A (GABAA) receptors revealed by a γ2(R43Q) epilepsy mutation.SAHA enhances Proteostasis of epilepsy-associated α1(A322D)β2γ2 GABA(A) receptors.The molecular biology of genetic-based epilepsies.Single-cell genetic expression of mutant GABAA receptors causing Human genetic epilepsy alters dendritic spine and GABAergic bouton formation in a mutation-specific manner Genetic and Molecular Regulation of Extrasynaptic GABA-A Receptors in the Brain: Therapeutic Insights for Epilepsy.γ2 GABAR Trafficking and the Consequences of Human Genetic Variation

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GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors

http://www.wikidata.org/entity/Q34074424

description

2010 nî lūn-bûn

@nan

2010 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի հունիսին հրատարակված գիտական հոդված

@hy

2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

GABA(A) receptor alpha1 subuni ...... of wild type GABA(A) receptors

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GABA(A) receptor alpha1 subuni ...... of wild type GABA(A) receptors

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GABA(A) receptor alpha1 subuni ...... of wild type GABA(A) receptors

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GABA(A) receptor alpha1 subuni ...... of wild type GABA(A) receptors

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JBC.M110.142299

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Journal of Biological Chemistry

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GABA(A) receptor alpha1 subuni ...... of wild type GABA(A) receptors

@en

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Emanuel J Botzolakis

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Hua-Jun Feng

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Li Ding

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Martin J Gallagher

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Ningning Hu

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Robert L Macdonald

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P2860

Development of a tonic form of synaptic inhibition in rat cerebellar granule cells resulting from persistent activation of GABAA receptors

Mice with a targeted disruption of the Cl-/HCO3- exchanger AE3 display a reduced seizure threshold

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy

The juvenile myoclonic epilepsy GABA(A) receptor alpha1 subunit mutation A322D produces asymmetrical, subunit position-dependent reduction of heterozygous receptor currents and alpha1 subunit protein expression

Mediators of endoplasmic reticulum stress-induced apoptosis

Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy.

Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism

A mutation in the GABAA receptor alpha 1 subunit linked to human epilepsy affects channel gating properties.

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26390-26405

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scholarly article

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10.1074/JBC.M110.142299

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34

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285

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2010-06-15T00:00:00Z

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20551311

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2924069

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