Congenital myasthenia-related AChR δ subunit mutation interferes with intersubunit communication essential for channel gating

Journal of Clinical Investigation

Volumn 118, Issue 5, 2008, Pages 1867-1876

  Shen, Xin Ming ^a   Fukuda, Taku ^a,c   Ohno, Kinji ^a,d   Sine, Steven M ^b   Engel, Andrew G ^a  

^a MAYO CLINIC   (United States)

^b MAYO GRADUATE SCHOOL   (United States)

^c NAGASAKI UNIVERSITY HOSPITAL   (Japan)

^d NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

3,4 DIAMINOPYRIDINE; ASPARTIC ACID; CHOLINERGIC RECEPTOR; CHOLINERGIC RECEPTOR DELTA; GLYCINE; LEUCINE; LYSINE; PROLINE; PROTEIN SUBUNIT; PYRIDOSTIGMINE;

ADULT; ALPHA CHAIN; AMINO ACID SUBSTITUTION; ARTICLE; BETA CHAIN; CHANNEL GATING; CLINICAL FEATURE; CONGENITAL MYASTHENIC SYNDROME; CONTROLLED STUDY; ENERGY TRANSFER; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MORPHOMETRICS; MUTATIONAL ANALYSIS; NERVE ENDING; PRIORITY JOURNAL; PROTEIN EXPRESSION; TREATMENT RESPONSE;

ADULT; AMINO ACID SEQUENCE; CELL LINE; FEMALE; HUMANS; ION CHANNEL GATING; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MYASTHENIC SYNDROMES, CONGENITAL; PATCH-CLAMP TECHNIQUES; POINT MUTATION; PROTEIN STRUCTURE, QUATERNARY; PROTEIN SUBUNITS; RECEPTORS, CHOLINERGIC;

EID: 43049143873     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI34527     Document Type: Article

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