Article
A novel hyperekplexia-causing mutation in the pre-transmembrane segment 1 of the human glycine receptor alpha1 subunit reduces membrane expression and impairs gating by agonists.
The Journal of biological chemistry - 11 Jun 2004
Castaldo Pasqualina, Stefanoni Patrizia, Miceli Francesco, Coppola Giangennaro, Del Giudice Emanuele Miraglia, Bellini Giulia, Pascotto Antonio, Trudell James R, Harrison Neil L, Annunziato Lucio, Taglialatela Maurizio
Abstract excerpt
In this study, we have compared the functional consequences of three mutations (R218Q, V260M, and Q266H) in the alpha(1) subunit of the glycine receptor (GlyRA1) causing hyperekplexia, an inherited neurological channelopathy. In HEK-293 cells, the agonist EC(50s) for glycine-activated Cl(-) currents were increased from 26 microm in wtGlyRA1, to 5747, 135, and 129 microm in R218Q, V260M, and Q266H GlyRA1 channels,...
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