A novel hyperekplexia-causing mutation in the pre-transmembrane segment 1 of the human glycine receptor α1 subunit reduces membrane expression and impairs gating by agonists

Journal of Biological Chemistry

Volumn 279, Issue 24, 2004, Pages 25598-25604

  Castaldo, Pasqualina ^a   Stefanoni, Patrizia ^b   Miceli, Francesco ^a   Coppola, Giangennaro ^b   Del Giudice, Emanuele Miraglia ^b   Bellini, Giulia ^b   Pascotto, Antonio ^b   Trudell, James R ^c   Harrison, Neil L ^d   Annunziato, Lucio ^a   Taglialatela, Maurizio ^a,e  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b SECOND UNIVERSITY OF NAPLES   (Italy)

^c STANFORD UNIVERSITY   (United States)

^d WEILL CORNELL MEDICAL COLLEGE   (United States)

^e UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CELLS; MODAL ANALYSIS; NEUROLOGY; SENSITIVITY ANALYSIS;

BINDING SITES; RECEPTORS;

MUTAGENESIS;

ARGININE; BETA ALANINE; GLUTAMINE; GLYCINE RECEPTOR; GLYCINE RECEPTOR AGONIST; GLYCINE RECEPTOR ALPHA1; HISTIDINE; METHIONINE; STRYCHNINE; TAURINE; UNCLASSIFIED DRUG; VALINE;

ALPHA CHAIN; ARTICLE; BINDING SITE; CELL LYSATE; CHANNEL GATING; CHLORIDE CURRENT; CONTROLLED STUDY; HUMAN; HUMAN CELL; MOLECULAR MODEL; MUTATION; PHENOTYPE; PRIORITY JOURNAL; RECEPTOR INTRINSIC ACTIVITY; STARTLE EPILEPSY;

BRAIN DISEASES; HUMANS; ION CHANNEL GATING; MODELS, MOLECULAR; MUTATION; RECEPTORS, GLYCINE; STARTLE REACTION; STRUCTURE-ACTIVITY RELATIONSHIP; STRYCHNINE;

STRYCHNOS TOXIFERA;

EID: 2942597514     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M311021200     Document Type: Article

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