A Novel Hyperekplexia-causing Mutation in the Pre-transmembrane Segment 1 of the Human Glycine Receptor α1 Subunit Reduces Membrane Expression and Impairs Gating by Agonists
Open Access
- 1 June 2004
- journal article
- Published by Elsevier
- Vol. 279 (24) , 25598-25604
- https://doi.org/10.1074/jbc.m311021200
Abstract
No abstract availableKeywords
This publication has 39 references indexed in Scilit:
- Structure and gating mechanism of the acetylcholine receptor poreNature, 2003
- Modulation of glycine receptor function: a novel approach for therapeutic intervention at inhibitory synapses?Trends in Pharmacological Sciences, 2002
- The Inhibitory Glycine Receptor—Simple Views of a Complicated ChannelChemBioChem, 2002
- Hyperekplexia: a treatable neurogenetic diseaseBrain & Development, 2002
- Identification of a gephyrin binding motif on the glycine receptor β subunitNeuron, 1995
- Glycine receptor β–subunit gene mutation in spastic mouse associated with LINE–1 element insertionNature Genetics, 1994
- A missense mutation in the gene encoding the α1 subunit of the inhibitory glycine receptor in the spasmodic mouseNature Genetics, 1994
- Mutations in the α1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexiaNature Genetics, 1993
- Startle disease, or hyperekplexia: Response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysisAnnals of Neurology, 1992
- Cloning and expression of the 58 kd β subunit of the inhibitory glycine receptorNeuron, 1990