Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia.

Hereditary hyperekplexia is a dominant neurological disorder associated with point mutations at the channel-forming segment M2 of the glycine receptor alpha 1 subunit. Voltage-clamp recordings from the heterologously expressed mutants (alpha 1R271L or alpha 1R271Q) revealed 146- to 183-fold decrease...

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Veröffentlicht in:	EMBO J
Hauptverfasser:	Langosch, D, Laube, B, Rundström, N, Schmieden, V, Bormann, J, Betz, H
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Nature Publishing Group 1994
Schlagworte:	Research Article
Online-Zugang:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC395349/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7925268/ https://ncbi.nlm.nih.govhttps://doi.org/10.1002/j.1460-2075.1994.tb06742.x
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