(Q24304333)

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GABRB3 mutation, G32R, associated with childhood absence epilepsy alters α1β3γ2L γ-aminobutyric acid type A (GABAA) receptor expression and channel gating

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scholarly article

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GABRB3 mutation, G32R, associated with childhood absence epilepsy alters α1β3γ2L γ-aminobutyric acid type A (GABAA) receptor expression and channel gating (English)

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Gamma-aminobutyric acid type A receptor subunit beta3

1 reference

GOA release 2020-03-11

childhood absence epilepsy

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based on heuristic

inferred from title

author name string

Katharine N Gurba

1

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Ciria C Hernandez

2

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Ningning Hu

3

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Robert L Macdonald

4

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language of work or name

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publication date

6 April 2012

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Journal of Biological Chemistry

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287

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15

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12083-97

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International Union of Pharmacology. LXX. Subtypes of gamma-aminobutyric acid(A) receptors: classification on the basis of subunit composition, pharmacology, and function. Update

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19 March 2017

Linkage and association analysis of CACNG3 in childhood absence epilepsy

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3320954

19 March 2017

SWISS-MODEL: An automated protein homology-modeling server

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19 March 2017

X-ray structure of a pentameric ligand-gated ion channel in an apparently open conformation

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19 March 2017

X-ray structure of a prokaryotic pentameric ligand-gated ion channel

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19 March 2017

Crystal structure of the extracellular domain of nAChR alpha1 bound to alpha-bungarotoxin at 1.94 A resolution

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19 March 2017

Crystal structure of an ACh-binding protein reveals the ligand-binding domain of nicotinic receptors

1 reference

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19 March 2017

Refined structure of the nicotinic acetylcholine receptor at 4A resolution

1 reference

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19 March 2017

Association between genetic variation of CACNA1H and childhood absence epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3320954

19 March 2017

A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3320954

19 March 2017

Roles of N-linked glycans in the endoplasmic reticulum

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3320954

7 April 2017

Congenital disorders of glycosylation

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3320954

27 September 2017

N-glycosylation efficiency is determined by the distance to the C-terminus and the amino acid preceding an Asn-Ser-Thr sequon

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3320954

27 September 2017

Glycosylation of {beta}2 subunits regulates GABAA receptor biogenesis and channel gating

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3320954

27 September 2017

Enhanced tonic GABAA inhibition in typical absence epilepsy.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3320954

27 September 2017

N-glycans are direct determinants of CFTR folding and stability in secretory and endocytic membrane traffic

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3320954

27 September 2017

The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3320954

27 September 2017

Role of the N-terminal alpha-helix in biogenesis of alpha7 nicotinic receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3320954

27 September 2017

Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3320954

27 September 2017

N-glycan structure dictates extension of protein folding or onset of disposal

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3320954

27 September 2017

N-linked oligosaccharides direct the differential assembly and secretion of inhibin alpha- and betaA-subunit dimers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3320954

27 September 2017

Evolving concepts on the pathophysiology of absence seizures: the cortical focus theory

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3320954

27 September 2017

Structural elements involved in activation of the gamma-aminobutyric acid type A (GABAA) receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3320954

27 September 2017

Structure and function of AChBP, homologue of the ligand-binding domain of the nicotinic acetylcholine receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3320954

27 September 2017

Subunit composition, distribution and function of GABA(A) receptor subtypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3320954

27 September 2017

Childhood absence epilepsy: genes, channels, neurons and networks.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3320954

27 September 2017

Identification of amino acid residues within GABA(A) receptor beta subunits that mediate both homomeric and heteromeric receptor expression.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3320954

27 September 2017

Single channel properties of recombinant GABAA receptors containing gamma 2 or delta subtypes expressed with alpha 1 and beta 3 subtypes in mouse L929 cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3320954

27 September 2017

Stoichiometry and assembly of a recombinant GABAA receptor subtype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3320954

27 September 2017

Do salt bridges stabilize proteins? A continuum electrostatic analysis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3320954

27 September 2017

Site-directed mutagenesis of N-linked glycosylation sites on the gamma-aminobutyric acid type A receptor alpha 1 subunit

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3320954

27 September 2017

Oligosaccharyl transferase: the central enzyme in the pathway of glycoprotein assembly

1 reference

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27 September 2017

Effects of Kv1.1 channel glycosylation on C-type inactivation and simulated action potentials

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3320954

30 May 2018

Structural requirements of N-glycosylation of proteins. Studies with proline peptides as conformational probes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3320954

30 May 2018

Differences between Asn-Xaa-Thr-containing peptides: a comparison of solution conformation and substrate behavior with oligosaccharyltransferase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3320954

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3320954

30 May 2018

Common polymorphisms in the CACNA1H gene associated with childhood absence epilepsy in Chinese Han population.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.332528

21 January 2018

Subunit arrangement of gamma-aminobutyric acid type A receptors

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.332528

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.M111.332528

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.M111.332528

21 January 2018

Developmental co-regulation of the beta and gamma GABAA receptor subunits with distinct alpha subunits in the human dorsolateral prefrontal cortex

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.332528

21 January 2018

Linkage and mutational analysis of CLCN2 in childhood absence epilepsy

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.332528

21 January 2018

[T-type calcium channel gene-CACNA1H is a susceptibility gene to childhood absence epilepsy]

1 reference

https://pubmed.ncbi.nlm.nih.gov/22303015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The GABRA6 mutation, R46W, associated with childhood absence epilepsy, alters 6β22 and 6β2 GABA(A) receptor channel gating and expression

1 reference

https://pubmed.ncbi.nlm.nih.gov/22303015

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/22303015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Definitive evidence that a single N-glycan among three glycans on inducible costimulator is required for proper protein trafficking and ligand binding

1 reference

https://pubmed.ncbi.nlm.nih.gov/22303015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GABA(A) receptor assembly. Identification and structure of gamma(2) sequences forming the intersubunit contacts with alpha(1) and beta(3) subunits

1 reference

https://pubmed.ncbi.nlm.nih.gov/22303015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intraburst kinetic properties of the GABAA receptor main conductance state of mouse spinal cord neurones in culture

1 reference

https://pubmed.ncbi.nlm.nih.gov/22303015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1074/JBC.M111.332528

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

release_avop6yeiazg25ae4gf4mbxup3y

1 reference

https://api.fatcat.wiki/v0/release/avop6yeiazg25ae4gf4mbxup3y

24 November 2022

based on heuristic

mapped directly with Wikidata item

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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