The GABRA6 mutation, R46W, associated with childhood absence epilepsy, alters 6β22 and 6β2 GABA(A) receptor channel gating and expression (Q84963928)

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13 February 2020

title

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

1 reference

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childhood absence epilepsy

13 February 2020

main subject

1 reference

Ciria C Hernandez

1

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13 February 2020

Katharine N Gurba

series ordinal

2

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13 February 2020

Ningning Hu

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21930603%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Robert L Macdonald

series ordinal

4

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13 February 2020

publication date

19 September 2011

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13 February 2020

published in

Journal of Physiology

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13 February 2020

volume

589

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13 February 2020

issue

Pt 23

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13 February 2020

page(s)

5857-5878

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Refined structure of the nicotinic acetylcholine receptor at 4A resolution

13 February 2020

cites work

1 reference

12 December 2020

Gene knockout of the alpha6 subunit of the gamma-aminobutyric acid type A receptor: lack of effect on responses to ethanol, pentobarbital, and general anesthetics.

1 reference

12 December 2020

Genetics of idiopathic epilepsies

1 reference

12 December 2020

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

1 reference

12 December 2020

Initial coupling of binding to gating mediated by conserved residues in the muscle nicotinic receptor

1 reference

12 December 2020

Comparative models of GABAA receptor extracellular and transmembrane domains: important insights in pharmacology and function.

1 reference

12 December 2020

Recent advances in Cys-loop receptor structure and function

1 reference

12 December 2020

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

1 reference

12 December 2020

Gating of nicotinic ACh receptors; new insights into structural transitions triggered by agonist binding that induce channel opening

1 reference

12 December 2020

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

1 reference

12 December 2020

A conserved salt bridge critical for GABA(A) receptor function and loop C dynamics

1 reference

12 December 2020

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

1 reference

12 December 2020

The role of neuronal GABA(A) receptor subunit mutations in idiopathic generalized epilepsies.

1 reference

12 December 2020

1 reference

12 December 2020

Modulation of spontaneous and GABA-evoked tonic alpha4beta3delta and alpha4beta3gamma2L GABAA receptor currents by protein kinase A.

1 reference

12 December 2020

Mutations in GABAA receptor subunits associated with genetic epilepsies

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of residues within GABA(A) receptor alpha subunits that mediate specific assembly with receptor beta subunits.

1 reference

12 December 2020

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

1 reference

12 December 2020

Structural determinants of fast desensitization and desensitization-deactivation coupling in GABAa receptors.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Anxiety over GABA(A) receptor structure relieved by AChBP.

1 reference

12 December 2020

Two different mechanisms of disinhibition produced by GABAA receptor mutations linked to epilepsy in humans.

1 reference

12 December 2020

Slow phases of GABA(A) receptor desensitization: structural determinants and possible relevance for synaptic function

1 reference

12 December 2020

Alpha1 and alpha6 subunits specify distinct desensitization, deactivation and neurosteroid modulation of GABA(A) receptors containing the delta subunit

1 reference

12 December 2020

Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation

1 reference

12 December 2020

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

12 December 2020

GABAA receptor subunit gamma2 and delta subtypes confer unique kinetic properties on recombinant GABAA receptor currents in mouse fibroblasts

1 reference

12 December 2020

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

1 reference

12 December 2020

A GABAA receptor mutation linked to human epilepsy (gamma2R43Q) impairs cell surface expression of alphabetagamma receptors

1 reference

12 December 2020

SWISS-MODEL: An automated protein homology-modeling server

1 reference

12 December 2020

Structure and gating mechanism of the acetylcholine receptor pore

1 reference

12 December 2020

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

12 December 2020

Assembly of GABAA receptor subunits: alpha 1 beta 1 and alpha 1 beta 1 gamma 2S subunits produce unique ion channels with dissimilar single-channel properties

1 reference

12 December 2020

Natural mutation of GABAA receptor alpha 6 subunit alters benzodiazepine affinity but not allosteric GABA effects

1 reference

12 December 2020

GABAA receptor channels

1 reference

12 December 2020

The GABAA receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum.

1 reference

12 December 2020

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

1 reference

12 December 2020

Assembly of GABAA receptor subunits: role of the delta subunit

1 reference

12 December 2020

Desensitized states prolong GABAA channel responses to brief agonist pulses.

1 reference

12 December 2020

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

1 reference

12 December 2020

Properties of putative cerebellar gamma-aminobutyric acid A receptor isoforms.

1 reference

12 December 2020

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

1 reference

12 December 2020

Stoichiometry and assembly of a recombinant GABAA receptor subtype.

1 reference

12 December 2020

Alcohol-induced motor impairment caused by increased extrasynaptic GABA(A) receptor activity

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12 December 2020

10.1113/JPHYSIOL.2011.218883

Identifiers

DOI

1 reference

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13 February 2020

0 references

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