(Q40395726)

English

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

scientific article published on March 2009

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

20 September 2017

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

1 reference

Europe PubMed Central

PMC publication ID

20 September 2017

generalized epilepsy with febrile seizures plus

0 references

author name string

Jing-Qiong Kang

1

1 reference

Europe PubMed Central

PMC publication ID

20 September 2017

Wangzhen Shen

2

1 reference

Europe PubMed Central

PMC publication ID

20 September 2017

Robert L Macdonald

3

1 reference

Europe PubMed Central

PMC publication ID

20 September 2017

language of work or name

0 references

publication date

1 March 2009

1 reference

Europe PubMed Central

PMC publication ID

20 September 2017

Journal of Neuroscience

1 reference

Europe PubMed Central

PMC publication ID

20 September 2017

29

1 reference

Europe PubMed Central

PMC publication ID

20 September 2017

9

1 reference

Europe PubMed Central

PMC publication ID

20 September 2017

2845-2856

1 reference

Europe PubMed Central

PMC publication ID

20 September 2017

A destructive interaction mechanism accounts for dominant-negative effects of misfolded mutants of voltage-gated calcium channels.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754234

22 September 2017

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=2754234

22 September 2017

A new paradigm of channelopathy in epilepsy syndromes: intracellular trafficking abnormality of channel molecules.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754234

22 September 2017

Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754234

22 September 2017

Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754234

22 September 2017

Delta subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of alpha4beta2delta GABAA receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754234

22 September 2017

Suppression of wild-type rhodopsin maturation by mutants linked to autosomal dominant retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754234

22 September 2017

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754234

22 September 2017

Truncated KCNQ1 mutant, A178fs/105, forms hetero-multimer channel with wild-type causing a dominant-negative suppression due to trafficking defect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754234

22 September 2017

Nonsense-mediated decay approaches the clinic

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754234

22 September 2017

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=2754234

22 September 2017

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754234

22 September 2017

Coupling endoplasmic reticulum stress to the cell death program

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754234

22 September 2017

Quality control in the endoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754234

22 September 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=2754234

22 September 2017

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754234

22 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754234

22 September 2017

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754234

22 September 2017

ER stress response: getting the UPR hand on misfolded proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754234

22 September 2017

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=2754234

22 September 2017

Degradation of CFTR by the ubiquitin-proteasome pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754234

22 September 2017

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=2754234

25 September 2017

The N-terminal domains of acetylcholine receptor subunits contain recognition signals for the initial steps of receptor assembly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754234

17 June 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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754234

20 August 2018

Defective assembly and trafficking of mutant HERG channels with C-terminal truncations in long QT syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754234

20 August 2018

A faux 3'-UTR promotes aberrant termination and triggers nonsense-mediated mRNA decay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754234

20 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754234

20 August 2018

The gamma 2 subunit of GABA(A) receptors is required for maintenance of receptors at mature synapses.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754234

20 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754234

20 August 2018

Decreased GABAA-receptor clustering results in enhanced anxiety and a bias for threat cues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754234

20 August 2018

Postsynaptic clustering of major GABAA receptor subtypes requires the gamma 2 subunit and gephyrin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754234

20 August 2018

Multiple proteolytic systems, including the proteasome, contribute to CFTR processing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754234

20 August 2018

A novel GABRG2 mutation associated with febrile seizures

1 reference

https://pubmed.ncbi.nlm.nih.gov/19261880

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GABA(A) receptor mutations associated with generalized epilepsies

1 reference

https://pubmed.ncbi.nlm.nih.gov/19261880

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Visualizing secretion and synaptic transmission with pH-sensitive green fluorescent proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/19261880

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1523/JNEUROSCI.4772-08.2009

1 reference

Europe PubMed Central

PMC publication ID

20 September 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

20 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

20 September 2017

ResearchGate publication ID

0 references

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