The GABAA receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum. (Q40506831)

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

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3 January 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 (English)

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3 January 2020

endoplasmic reticulum

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childhood absence epilepsy

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author name string

Jing-Qiong Kang

1

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3 January 2020

Robert L Macdonald

2

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language of work or name

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publication date

1 October 2004

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3 January 2020

Journal of Neuroscience

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3 January 2020

24

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40

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3 January 2020

8672-8677

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3 January 2020

Protein misfolding and degradation in genetic diseases.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15470132

12 December 2020

based on heuristic

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Cell surface stability of gamma-aminobutyric acid type A receptors. Dependence on protein kinase C activity and subunit composition.

1 reference

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12 December 2020

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

1 reference

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12 December 2020

based on heuristic

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Analysis of GABAA receptor assembly in mammalian cell lines and hippocampal neurons using gamma 2 subunit green fluorescent protein chimeras.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15470132

12 December 2020

based on heuristic

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15470132

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Subunit arrangement of gamma-aminobutyric acid type A receptors

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https://pubmed.ncbi.nlm.nih.gov/15470132

12 December 2020

based on heuristic

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

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https://pubmed.ncbi.nlm.nih.gov/15470132

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15470132

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [gamma 2(R43Q)] found in human epilepsy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15470132

12 December 2020

based on heuristic

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Effects of gamma2S subunit incorporation on GABAA receptor macroscopic kinetics

1 reference

https://pubmed.ncbi.nlm.nih.gov/15470132

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Modifications of a commercial perfusion system for use in ultrafast solution exchange during patch clamp recording

1 reference

https://pubmed.ncbi.nlm.nih.gov/15470132

12 December 2020

based on heuristic

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Cell Surface Expression of GluR5 Kainate Receptors Is Regulated by an Endoplasmic Reticulum Retention Signal

1 reference

https://pubmed.ncbi.nlm.nih.gov/15470132

12 December 2020

based on heuristic

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Beta subunit phosphorylation selectively increases fast desensitization and prolongs deactivation of alpha1beta1gamma2L and alpha1beta3gamma2L GABA(A) receptor currents.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15470132

12 December 2020

based on heuristic

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FM-dyes as experimental probes for dissecting vesicle trafficking in living plant cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/15470132

12 December 2020

based on heuristic

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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

https://pubmed.ncbi.nlm.nih.gov/15470132

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Stoichiometry of a recombinant GABAA receptor.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15470132

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Endocytosis of functional epidermal growth factor receptor-green fluorescent protein chimera

1 reference

https://pubmed.ncbi.nlm.nih.gov/15470132

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1523/JNEUROSCI.2717-04.2004

1 reference

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3 January 2020

1 reference

Europe PubMed Central

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3 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15470132%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

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