The epilepsy mutation, γ2(R43Q) disrupts a highly conserved inter-subunit contact site, perturbing the biogenesis of GABAA receptors
- 31 May 2005
- journal article
- Published by Elsevier in Molecular and Cellular Neuroscience
- Vol. 29 (1) , 120-127
- https://doi.org/10.1016/j.mcn.2005.01.002
Abstract
No abstract availableKeywords
This publication has 38 references indexed in Scilit:
- Epileptogenesis Causes Acute and Chronic Increases in GABAA Receptor Endocytosis That Contributes to the Induction and Maintenance of Seizures in the Hippocampal Culture Model of Acquired EpilepsyThe Journal of Pharmacology and Experimental Therapeutics, 2004
- The Cys-loop superfamily of ligand-gated ion channels: the impact of receptor structure on functionBiochemical Society Transactions, 2004
- GABAA Receptor Composition Is Determined by Distinct Assembly Signals within α and β SubunitsPublished by Elsevier ,2003
- Altered kinetics and benzodiazepine sensitivity of a GABA A receptor subunit mutation [γ 2 (R43Q)] found in human epilepsyProceedings of the National Academy of Sciences, 2002
- Two Different Mechanisms of Disinhibition Produced by GABAAReceptor Mutations Linked to Epilepsy in HumansJournal of Neuroscience, 2002
- Crystal structure of an ACh-binding protein reveals the ligand-binding domain of nicotinic receptorsNature, 2001
- First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit geneNature Genetics, 2001
- Subunit-Specific Association of Protein Kinase C and the Receptor for Activated C Kinase with GABA Type A ReceptorsJournal of Neuroscience, 1999
- Postsynaptic clustering of γ-aminobutyric acid type A receptors by the γ3 subunit in vivoProceedings of the National Academy of Sciences, 1999
- Potentiation, activation and blockade of GABAA receptors of clonal murine hypothalamic GT1‐7 neurones by propofolBritish Journal of Pharmacology, 1995