Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor function (Q28115275)

Gamma-aminobutyric acid type A receptor subunit beta3

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Ciria C. Hernandez

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26950270%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

author name string

Ningning Hu

4

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26950270%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Vaishali S Janve

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26950270%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Kelienne M Verdier

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26950270%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Robert L Macdonald

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26950270%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

publication date

7 March 2016

1 reference

3 January 2017

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26950270%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

volume

79

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1 June 2020

issue

5

1 reference

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1 June 2020

page(s)

806-825

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26950270%20AND%20SRC:MED&resulttype=core&format=json

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

1 June 2020

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1 reference

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De novo mutations in epileptic encephalopathies

20 March 2017

1 reference

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Mutations in the Gabrb1 gene promote alcohol consumption through increased tonic inhibition

20 March 2017

1 reference

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20 March 2017

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Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior

20 March 2017

1 reference

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X-ray structures of GluCl in apo states reveal a gating mechanism of Cys-loop receptors.

20 March 2017

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GABRA1 and STXBP1: novel genetic causes of Dravet syndrome

29 September 2017

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Co-expression of γ2 subunits hinders processing of N-linked glycans attached to the N104 glycosylation sites of GABAA receptor β2 subunits

29 September 2017

1 reference

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Patterns of mRNA and protein expression for 12 GABAA receptor subunits in the mouse brain.

29 September 2017

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Structural link between γ-aminobutyric acid type A (GABAA) receptor agonist binding site and inner β-sheet governs channel activation and allosteric drug modulation

29 September 2017

1 reference

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Three arginines in the GABAA receptor binding pocket have distinct roles in the formation and stability of agonist- versus antagonist-bound complexes

29 September 2017

1 reference

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Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy

29 September 2017

1 reference

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

29 September 2017

1 reference

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Mutations in GABAA receptor subunits associated with genetic epilepsies

29 September 2017

1 reference

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

29 September 2017

1 reference

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

29 September 2017

1 reference

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Multiple actions of propofol on alphabetagamma and alphabetadelta GABAA receptors

29 September 2017

1 reference

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Homologous sites of GABA(A) receptor alpha(1), beta(3) and gamma(2) subunits are important for assembly.

29 September 2017

1 reference

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An N-terminal histidine regulates Zn(2+) inhibition on the murine GABA(A) receptor beta3 subunit

29 September 2017

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29 September 2017

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Mutation of the 9' leucine in the GABA(A) receptor gamma2L subunit produces an apparent decrease in desensitization by stabilizing open states without altering desensitized states

29 September 2017

1 reference

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Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.

29 September 2017

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

2 June 2018

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Microsomal protein synthesis inhibition: an early manifestation of gentamicin nephrotoxicity

2 June 2018

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

2 June 2018

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Crystal structure of a human GABAA receptor

2 June 2018

1 reference

Pharmacologic evidence for abnormal thalamocortical functioning in GABA receptor beta3 subunit-deficient mice, a model of Angelman syndrome

21 January 2018

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

21 January 2018

1 reference

Identification of a Zn2+ binding site on the murine GABAA receptor complex: dependence on the second transmembrane domain of beta subunits.

21 January 2018

1 reference

Three epilepsy-associated GABRG2 missense mutations at the γ+/β- interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents.

21 January 2018

1 reference

A novel variant in GABRB2 associated with intellectual disability and epilepsy.

21 January 2018

1 reference

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

21 January 2018

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Homomeric beta 1 gamma-aminobutyric acid A receptor-ion channels: evaluation of pharmacological and physiological properties.

27 November 2018

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

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26950270

12 December 2020

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

PubMed

https://pubmed.ncbi.nlm.nih.gov/26950270

12 December 2020

inferred from PubMed ID database lookup

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

PubMed

https://pubmed.ncbi.nlm.nih.gov/26950270

12 December 2020

inferred from PubMed ID database lookup

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30 July 2022

OpenCitations bibliographic resource ID

3552772

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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30 July 2022

https://api.fatcat.wiki/v0/release/gramuknrureipjgnys3wpgr7se

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30 July 2022