Mutations in congenital myasthenic syndromes reveal an ε subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR

Human Molecular Genetics

Volumn 11, Issue 24, 2002, Pages 3087-3096

  Ealing, John ^a   Webster, Richard ^a   Brownlow, Sharon ^a   Abdelgany, Amr ^a   Oosterhuis, Hans ^b   Muntoni, Francesco ^c   Vaux, David J ^d   Vincent, Angela ^a   Beeson, David ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c IMPERIAL COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA BUNGAROTOXIN I 125; ANTIBODY; BIOLOGICAL MARKER; CHOLINERGIC RECEPTOR; CYSTEINE; GREEN FLUORESCENT PROTEIN; RECEPTOR SUBUNIT; HYBRID PROTEIN; PHOTOPROTEIN;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CARBOXY TERMINAL SEQUENCE; CELL MEMBRANE; CELL SURFACE; CLINICAL ARTICLE; CONTROLLED STUDY; DISULFIDE BOND; ENDOPLASMIC RETICULUM; GENE DELETION; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; ISOTOPE LABELING; MATURATION; MUTAGENESIS; MYASTHENIA; MYASTHENIA SYNDROME; PRECIPITATION; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; RHABDOMYOSARCOMA; SARCOMA CELL; WILD TYPE; CONGENITAL MYASTHENIC SYNDROME; GENETICS; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE;

CYSTEINE; DNA MUTATIONAL ANALYSIS; GREEN FLUORESCENT PROTEINS; HUMANS; LUMINESCENT PROTEINS; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; RECEPTORS, CHOLINERGIC; RECOMBINANT FUSION PROTEINS; SEQUENCE DELETION;

EID: 0037112742     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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