Article
A Novel Glycine Receptor Variant with Startle Disease Affects Syndapin I and Glycinergic Inhibition.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 17 Jun 2020
Langlhofer Georg, Schaefer Natascha, Maric Hans M, Keramidas Angelo, Zhang Yan, Baumann Peter, Blum Robert, Breitinger Ulrike, Strømgaard Kristian, Schlosser Andreas, Kessels Michael M, Koch Dennis, Qualmann Britta, Breitinger Hans-Georg, Lynch Joseph W, Villmann Carmen
Abstract excerpt
Glycine receptors (GlyRs) are the major mediators of fast synaptic inhibition in the adult human spinal cord and brainstem. Hereditary mutations to GlyRs can lead to the rare, but potentially fatal, neuromotor disorder hyperekplexia. Most mutations located in the large intracellular domain (TM3-4 loop) of the GlyRα1 impair surface expression levels of the receptors. The novel GLRA1 mutation P366L, located in the...
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