Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR

Human Molecular Genetics

Volumn 22, Issue 14, 2013, Pages 2905-2913

  Zoltowska, Katarzyna ^a   Webster, Richard ^a   Finlayson, Sarah ^a   Maxwell, Susan ^a   Cossins, Judith ^a   Müller, Juliane ^b   Lochmüller, Hanns ^b   Beeson, David ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINERGIC RECEPTOR; CHOLINERGIC RECEPTOR ALPHA; CHOLINERGIC RECEPTOR BETA; CHOLINERGIC RECEPTOR DELTA; CHOLINERGIC RECEPTOR EPSILON; HEXOSAMINE; MESSENGER RNA; RECEPTOR SUBUNIT; SMALL INTERFERING RNA; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE;

ADULT; ARTICLE; CASE REPORT; CELL SURFACE; CHILD; CONGENITAL MYASTHENIC SYNDROME; CONTROLLED STUDY; ELECTROPHYSIOLOGY; ENZYME INHIBITION; GENE; GENE EXPRESSION; GENE MUTATION; GFPT1 GENE; GLYCOSYLATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MISSENSE MUTATION; MYOTUBE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD; SKELETAL MUSCLE; STEADY STATE; WESTERN BLOTTING;

CELLS, CULTURED; DOWN-REGULATION; GLUTAMINE-FRUCTOSE-6-PHOSPHATE TRANSAMINASE (ISOMERIZING); GLYCOSYLATION; HUMANS; MUSCLE FIBERS, SKELETAL; MUSCLE, SKELETAL; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; RECEPTORS, CHOLINERGIC;

EID: 84880312819     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt145     Document Type: Article

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