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Article

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

The EMBO journal - 15 Sept 1994

Langosch D, Laube B, Rundström N, Schmieden V, Bormann J, Betz H

Abstract excerpt

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 decreased potencies of glycine to activate the chloride channel, and significantly reduced maximal whole-cell currents as...

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Identifiers

PMID: 7925268
DOI: 10.1002/j.1460-2075.1994.tb06742.x
PMCID: PMC395349

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia.PMID 7925268Read ↗

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