Investigation of congenital myasthenia reveals functional asymmetry of invariant acetylcholine receptor (AChR) cys-loop aspartates

Journal of Biological Chemistry

Volumn 291, Issue 7, 2016, Pages 3291-3301

  Shen, Xin Ming ^a   Brengman, Joan ^a   Neubauer, David ^b   Sine, Steven M ^a,c   Engel, Andrew G ^a  

^a MAYO CLINIC   (United States)

^b UNIVERSITY CHILDREN S HOSPITAL   (Slovenia)

^c MAYO GRADUATE SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOCHEMISTRY; BIOLOGY;

ACETYLCHOLINE RECEPTOR; CELL SURFACE EXPRESSION; CHANNEL GATING; DISEASE PHENOTYPES; EUKARYOTIC MEMBERS; LIGAND BINDING; SAFETY MARGIN; SYNAPTIC RESPONSE;

CELL MEMBRANES;

ARGININE; ASPARTIC ACID; CHOLINERGIC RECEPTOR; CYSTEINE; ACETYLCHOLINE; BUNGAROTOXIN; LIGAND; NICOTINIC AGENT; NICOTINIC RECEPTOR; RECOMBINANT PROTEIN;

ARTICLE; CASE REPORT; CHANNEL GATING; CHILD; CONGENITAL MYASTHENIC SYNDROME; CONTROLLED STUDY; CRYSTAL STRUCTURE; DISEASE SEVERITY; FEMALE; HUMAN; LIGAND BINDING; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NEUROMUSCULAR TRANSMISSION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; SCHOOL CHILD; SIGNAL TRANSDUCTION; THERMODYNAMICS; AMINO ACID SUBSTITUTION; CHEMISTRY; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; GENETICS; HEK293 CELL LINE; INTRON; METABOLISM; MOLECULAR MODEL; MUTATION; PATHOPHYSIOLOGY; PROTEIN CONFORMATION; RNA SPLICING; SEVERITY OF ILLNESS INDEX;

ACETYLCHOLINE; AMINO ACID SUBSTITUTION; BUNGAROTOXINS; CHILD; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; HEK293 CELLS; HUMANS; INTRONS; LIGANDS; MODELS, MOLECULAR; MUSCLE WEAKNESS; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; NICOTINIC AGONISTS; PROTEIN CONFORMATION; PROTEIN INTERACTION DOMAINS AND MOTIFS; RECEPTORS, NICOTINIC; RECOMBINANT PROTEINS; RNA SPLICING; SEVERITY OF ILLNESS INDEX;

EID: 84964588131     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M115.683995     Document Type: Article

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