The startle disease mutation E103K impairs activation of human homomeric α1 glycine receptors by disrupting an intersubunit salt bridge across the agonist binding site.

Glycine receptors (GlyR) belong to the pentameric ligand-gated ion channel (pLGIC) superfamily and mediate fast inhibitory transmission in the vertebrate CNS. Disruption of glycinergic transmission by inherited mutations produces startle disease in man. Many startle mutations are in GlyRs and provid...

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Main Authors: Safar, F, Hurdiss, E, Erotocritou, M, Greiner, T, Lape, R, Irvine, M, Fang, G, Jane, D, Yu, R, Dämgen, M, Biggin, P, Sivilotti, L
Format: Journal article
Language:English
Published: American Society for Biochemistry and Molecular Biology On 2017