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Article

Opposing effects of molecular volume and charge at the hyperekplexia site alpha 1(P250) govern glycine receptor activation and desensitization.

The Journal of biological chemistry - 10 Aug 2001

Breitinger H G, Villmann C, Becker K, Becker C M

Abstract excerpt

Allelic variants of the glycine receptor alpha1 subunit gene GLRA1 underlie the human neurological disorder hyperekplexia. Among these, the subunit variant alpha1(P250T) is characterized by an amino acid substitution within the cytoplasmic TM1-2 loop. To identify structural elements at position alpha1(250) that govern receptor function, homomeric mutant receptor channels were subjected to electrophysiological...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11395484
DOI: 10.1074/jbc.M100446200

Genes

GLRA1

Provenance

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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