Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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...

Topics

Animals
Chloride Channels
Chlorides
Electric Conductivity
Genes, Dominant
Glycine
Humans
Infant
Mutation
Nervous System Diseases
Oocytes
RNA, Complementary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Receptors, Glycine

Reflex, Startle

Strychnine

Xenopus

Source

Open in PubMed Open full text

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7925268-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

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

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.Semantic proximity Read ↗

Properties of human glycine receptors containing the hyperekplexia mutation alpha1(K276E), expressed in Xenopus oocytes.Semantic proximity Read ↗

Hyperekplexia mutations of the glycine receptor unmask the inhibitory subsite for beta-amino-acids.Semantic proximity Read ↗

The impact of human hyperekplexia mutations on glycine receptor structure and function.Semantic proximity Read ↗

Hyperekplexia mutation of glycine receptors: decreased gating efficacy with altered binding thermodynamics.Semantic proximity Read ↗

Structure-function relationships of the human glycine receptor: insights from hyperekplexia mutations.Semantic proximity Read ↗

Characterization of two mutations, M287L and Q266I, in the α1 glycine receptor subunit that modify sensitivity to alcohols.Semantic proximity Read ↗

Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB).Semantic proximity Read ↗

The startle disease mutation α1S270T predicts shortening of glycinergic synaptic currents.Semantic proximity Read ↗

Lack of positive allosteric modulation of mutated alpha(1)S267I glycine receptors by cannabinoids.Semantic proximity Read ↗

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.Semantic proximity Read ↗

A critical role for glycine transporters in hyperexcitability disordersSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.