Global N-linked glycosylation is not significantly impaired in myoblasts in congenital myasthenic syndromes caused by defective glutamine-fructose-6-phosphate transaminase 1 (GFPT1)

Biomolecules

Volumn 5, Issue 4, 2015, Pages 2758-2781

  Chen, Qiushi ^a   Müller, Juliane S ^b   Pang, Poh Choo ^a   Laval, Steve H ^b   Haslam, Stuart M ^a   Lochmüller, Hanns ^b   Dell, Anne ^a  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Congenital myasthenic syndromes; Glutamine fructose 6 phosphate transaminase 1; Glycosylation; Mass spectrometry

Indexed keywords

GLUTAMINE FRUCTOSE 6 PHOSPHATE AMINOTRANSFERASE; GLUTAMINE FRUCTOSE 6 PHOSPHATE TRANSAMINASE 1; SIALIC ACID; UNCLASSIFIED DRUG; DOK7 PROTEIN, HUMAN; GFPT1 PROTEIN, HUMAN; MITOCHONDRIAL PROTEIN; MUSCLE PROTEIN; ND5 PROTEIN, HUMAN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ARTICLE; CELL DIFFERENTIATION; CONGENITAL MYASTHENIC SYNDROME; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE MUTATION; GLYCOSYLATION; HUMAN; HUMAN CELL; LIMB GIRDLE MUSCULAR DYSTROPHY; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; MYOBLAST; MYOTUBE; NEUROMUSCULAR TRANSMISSION; ADOLESCENT; ADULT; CASE CONTROL STUDY; CELL CULTURE; FEMALE; GENETICS; MALE; METABOLISM; MIDDLE AGED; PROTEIN PROCESSING;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CELLS, CULTURED; ELECTRON TRANSPORT COMPLEX I; FEMALE; GLUTAMINE-FRUCTOSE-6-PHOSPHATE TRANSAMINASE (ISOMERIZING); GLYCOSYLATION; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL PROTEINS; MUSCLE PROTEINS; MYASTHENIC SYNDROMES, CONGENITAL; MYOBLASTS; PROTEIN PROCESSING, POST-TRANSLATIONAL;

EID: 84973611986     PISSN: None     EISSN: 2218273X     Source Type: Journal    
DOI: 10.3390/biom5042758     Document Type: Article

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