(Q46669729)

English

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

scientific article published on 25 August 2005

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scholarly article

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16123039

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16123039

transmembrane protein

0 references

endoplasmic reticulum

1 reference

based on heuristic

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author name string

Martin J Gallagher

1

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16123039

Wangzhen Shen

2

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16123039

Luyan Song

3

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16123039

Robert L Macdonald

4

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16123039

language of work or name

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publication date

25 August 2005

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16123039

Journal of Biological Chemistry

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16123039

280

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16123039

45

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16123039

37995-38004

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16123039

GABAA receptor channels

1 reference

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21 January 2018

Which GABAA-receptor subtypes really occur in the brain?

1 reference

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21 January 2018

Subunit arrangement of gamma-aminobutyric acid type A receptors

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M508305200

21 January 2018

Forced subunit assembly in alpha1beta2gamma2 GABAA receptors. Insight into the absolute arrangement

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M508305200

21 January 2018

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M508305200

21 January 2018

A mutation in the GABAA receptor alpha 1 subunit linked to human epilepsy affects channel gating properties

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M508305200

21 January 2018

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://api.crossref.org/works/10.1074%2FJBC.M508305200

21 January 2018

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://api.crossref.org/works/10.1074%2FJBC.M508305200

21 January 2018

Expression of functional GABAA receptors in transfected L929 cells isolated by immunomagnetic bead separation

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M508305200

21 January 2018

The N-myristoylated Rab-GTPase m-Rabmc is involved in post-Golgi trafficking events to the lytic vacuole in plant cells.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M508305200

21 January 2018

Improved green fluorescent protein by molecular evolution using DNA shuffling

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M508305200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M508305200

21 January 2018

Detection and binding properties of GABA(A) receptor assembly intermediates.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M508305200

21 January 2018

Roles of N-linked glycans in the endoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M508305200

21 January 2018

The C-terminal juxtamembrane region of the delta 2 glutamate receptor controls its export from the endoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M508305200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M508305200

21 January 2018

A GABAA receptor alpha1 subunit tagged with green fluorescent protein requires a beta subunit for functional surface expression.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M508305200

21 January 2018

Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M508305200

21 January 2018

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M508305200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M508305200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M508305200

21 January 2018

ER-associated degradation in protein quality control and cellular regulation

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M508305200

21 January 2018

Endoplasmic reticulum-associated protein degradation--one model fits all?

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M508305200

21 January 2018

Position and ionization state of Asp in the core of membrane-inserted alpha helices control both the equilibrium between transmembrane and nontransmembrane helix topography and transmembrane helix positioning.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M508305200

21 January 2018

Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M508305200

21 January 2018

CFTR and chaperones: processing and degradation.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M508305200

21 January 2018

Molecular and pharmacological characterization of GABA(A) receptor alpha1 subunit knockout mice

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M508305200

21 January 2018

GABA(A) receptor alpha-1 subunit deletion alters receptor subtype assembly, pharmacological and behavioral responses to benzodiazepines and zolpidem.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M508305200

21 January 2018

Identifiers

10.1074/JBC.M508305200

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16123039

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16123039

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