(Q34074424)

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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

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

myoclonic epilepsy

1 reference

based on heuristic

juvenile myoclonic epilepsy

1 reference

based on heuristic

author name string

Li Ding

1

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Hua-Jun Feng

2

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Robert L Macdonald

3

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Emanuel J Botzolakis

4

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Ningning Hu

5

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Martin J Gallagher

6

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

language of work or name

0 references

publication date

15 June 2010

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Journal of Biological Chemistry

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

285

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

34

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

26390-26405

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

describes a project that uses

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2924069/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

Mutations in GABAA receptor subunits associated with genetic epilepsies

1 reference

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N terminus is key to the dominant negative suppression of Ca(V)2 calcium channels: implications for episodic ataxia type 2.

1 reference

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5 July 2018

Prediction by modeling that epilepsy may be caused by very small functional changes in ion channels

1 reference

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Investigation of ethanol-induced impairment of spatial memory in gamma2 heterozygous knockout mice.

1 reference

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5 July 2018

Two molecular pathways (NMD and ERAD) contribute to a genetic epilepsy associated with the GABA(A) receptor GABRA1 PTC mutation, 975delC, S326fs328X

1 reference

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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

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5 July 2018

Developmental impact of a familial GABAA receptor epilepsy mutation

1 reference

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5 July 2018

Mechanisms involved in the reduction of GABAA receptor alpha1-subunit expression caused by the epilepsy mutation A322D in the trafficking-competent receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2924069

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The ubiquitin-like protein Plic-1 enhances the membrane insertion of GABAA receptors by increasing their stability within the endoplasmic reticulum

1 reference

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5 July 2018

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

1 reference

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5 July 2018

The GABAA receptor alpha1 subunit epilepsy mutation A322D inhibits transmembrane helix formation and causes proteasomal degradation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2924069

5 July 2018

Effect of the alpha subunit subtype on the macroscopic kinetic properties of recombinant GABA(A) receptors

1 reference

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Mediators of endoplasmic reticulum stress-induced apoptosis

1 reference

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5 July 2018

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

1 reference

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5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2924069

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2924069

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

1 reference

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Multiple assembly signals in gamma-aminobutyric acid (type A) receptor subunits combine to drive receptor construction and composition

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Molecular and pharmacological characterization of GABA(A) receptor alpha1 subunit knockout mice

1 reference

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5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2924069

5 July 2018

Alternate use of distinct intersubunit contacts controls GABAA receptor assembly and stoichiometry.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2924069

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Pentylenetetrazole-induced inhibition of recombinant gamma-aminobutyric acid type A (GABA(A)) receptors: mechanism and site of action

1 reference

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

1 reference

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GABA(A) receptors: immunocytochemical distribution of 13 subunits in the adult rat brain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2924069

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Stoichiometry and assembly of a recombinant GABAA receptor subtype.

1 reference

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Ligand-gated ion channel subunit partnerships: GABAA receptor alpha6 subunit gene inactivation inhibits delta subunit expression.

1 reference

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

1 reference

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Assembly and cell surface expression of heteromeric and homomeric gamma-aminobutyric acid type A receptors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2924069

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The distribution of thirteen GABAA receptor subunit mRNAs in the rat brain. III. Embryonic and postnatal development

1 reference

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Differential and transient expression of GABAA receptor alpha-subunit mRNAs in the developing rat CNS

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2924069

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Subunit arrangement of gamma-aminobutyric acid type A receptors

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.142299

21 January 2018

Forced subunit assembly in alpha1beta2gamma2 GABAA receptors. Insight into the absolute arrangement

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.142299

21 January 2018

Juvenile myoclonic epilepsy.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.142299

21 January 2018

Endoplasmic reticulum retention and associated degradation of a GABAA receptor epilepsy mutation that inserts an aspartate in the M3 transmembrane segment of the alpha1 subunit

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.142299

21 January 2018

High Ca2+-phosphate transfection efficiency in low-density neuronal cultures

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.142299

21 January 2018

A conserved Cys-loop receptor aspartate residue in the M3-M4 cytoplasmic loop is required for GABAA receptor assembly

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.142299

21 January 2018

Compensatory alteration of inhibitory synaptic circuits in cerebellum and thalamus of gamma-aminobutyric acid type A receptor alpha1 subunit knockout mice.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.142299

21 January 2018

Investigation of the abundance and subunit composition of GABAA receptor subtypes in the cerebellum of alpha1-subunit-deficient mice.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.142299

21 January 2018

Mice lacking the major adult GABAA receptor subtype have normal number of synapses, but retain juvenile IPSC kinetics until adulthood.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.142299

21 January 2018

A new naturally occurring GABA(A) receptor subunit partnership with high sensitivity to ethanol.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.142299

21 January 2018

GABA(A) receptor alpha-1 subunit deletion alters receptor subtype assembly, pharmacological and behavioral responses to benzodiazepines and zolpidem.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.142299

21 January 2018

Dominant-negative calcium channel suppression by truncated constructs involves a kinase implicated in the unfolded protein response.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.142299

21 January 2018

Structural determinants for antagonist pharmacology that distinguish the rho1 GABAC receptor from GABAA receptors

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.142299

21 January 2018

Effects of acute and repeated zolpidem treatment on pentylenetetrazole-induced seizure threshold and on locomotor activity: comparison with diazepam

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.142299

21 January 2018

The epilepsy mutation, gamma2(R43Q) disrupts a highly conserved inter-subunit contact site, perturbing the biogenesis of GABAA receptors

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.142299

21 January 2018

Preferential coassembly of alpha4 and delta subunits of the gamma-aminobutyric acidA receptor in rat thalamus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2924069

28 October 2018

Developmental expression of GABA(A) receptor subunit mRNAs in individual hippocampal neurons in vitro and in vivo.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2924069

28 October 2018

GABAA Receptor 2 Subunit Mutations Linked to Human Epileptic Syndromes Differentially Affect Phasic and Tonic Inhibition

1 reference

https://pubmed.ncbi.nlm.nih.gov/20551311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/20551311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GABA(A) receptor composition is determined by distinct assembly signals within alpha and beta subunits

1 reference

https://pubmed.ncbi.nlm.nih.gov/20551311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A gamma 2(R43Q) mutation, linked to epilepsy in humans, alters GABAA receptor assembly and modifies subunit composition on the cell surface

1 reference

https://pubmed.ncbi.nlm.nih.gov/20551311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1074/JBC.M110.142299

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

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