(Q40506831)

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

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Europe PubMed Central

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

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)

1 reference

Europe PubMed Central

PMC publication ID

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

3 January 2020

endoplasmic reticulum

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childhood absence epilepsy

1 reference

based on heuristic

inferred from title

author name string

Jing-Qiong Kang

1

1 reference

Europe PubMed Central

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

3 January 2020

Robert L Macdonald

2

1 reference

Europe PubMed Central

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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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publication date

1 October 2004

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Europe PubMed Central

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

3 January 2020

Journal of Neuroscience

1 reference

Europe PubMed Central

PMC publication ID

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

3 January 2020

24

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Europe PubMed Central

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

3 January 2020

40

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Europe PubMed Central

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

3 January 2020

8672-8677

1 reference

Europe PubMed Central

PMC publication ID

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

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

inferred from PubMed ID database lookup

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

1 reference

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

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/15470132

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

inferred from PubMed ID database lookup

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

1 reference

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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

inferred from PubMed ID database lookup

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

inferred from PubMed ID database lookup

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

inferred from PubMed ID database lookup

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

inferred from PubMed ID database lookup

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

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

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

Europe PubMed Central

PMC publication ID

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

3 January 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

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

3 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

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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