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

We compared the effects of three missense mutations in the GABAA receptor γ2 subunit on GABAA receptor assembly, trafficking and function in HEK293T cells cotransfected with α1, β2, and wildtype or mutant γ2 subunits. The mutations R82Q and P83S were identified in families with genetic epilepsy with...
Ausführliche Beschreibung

Gespeichert in:
Autor*in:

Xuan Huang [verfasserIn]

Ciria C. Hernandez [verfasserIn]

Ningning Hu [verfasserIn]

Robert L. Macdonald [verfasserIn]

Format:

E-Artikel

Sprache:

Englisch

Erschienen:

2014

Schlagwörter:

GABAA receptors

Genetic generalized epilepsy

GABRG2(N79S) mutation

GABRG2(R82Q) mutation

GABRG2(P83S) mutation

Loss of function

Übergeordnetes Werk:

In: Neurobiology of Disease - Elsevier, 2021, 68(2014), Seite 167-179

Übergeordnetes Werk:

volume:68 ; year:2014 ; pages:167-179

Links:

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Journal toc

DOI / URN:

10.1016/j.nbd.2014.04.015

Katalog-ID:

DOAJ056915217

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