Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient

Glycobiology

Volumn 19, Issue 8, 2009, Pages 910-917

  Vleugels, Wendy ^a,b   Keldermans, Liesbeth ^a   Jaeken, Jaak ^a   Butters, Terry D ^c   Michalski, Jean Claude ^b   Matthijs, Gert ^a   Foulquier, François ^a,b  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b UNIVERSITÉ DES SCIENCES ET TECHNOLOGIES DE LILLE   (France)

^c UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Congenital disorders of glycosylation; ER; N glycosylation; Quality control

Indexed keywords

ALPHA 1-2 MANNOSYLTRANSFERASE; DOLICHOL; GLYCAN; GLYCOPROTEIN; MANNOSYL N ACETYLGLUCOSAMINE; MANNOSYLTRANSFERASE; OLIGOSACCHARIDE; PROTEIN ALG9; TRANSFERRIN; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1L; CONTROLLED STUDY; DEGLYCOSYLATION; EPILEPSY; FAILURE TO THRIVE; GENE STRUCTURE; GLYCOSYLATION; HEPATOMEGALY; HOMOZYGOSITY; HUMAN; HUMAN CELL; MISSENSE MUTATION; MUSCLE HYPOTONIA; NIPPLE MALFORMATION; PERICARDIAL EFFUSION; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN DEGRADATION; PROTEIN FOLDING; PROTEIN SYNTHESIS; PROTEIN TRANSPORT; PSYCHOMOTOR RETARDATION; QUALITY CONTROL;

CARBOHYDRATE METABOLISM, INBORN ERRORS; DOLICHOL; FEMALE; GLYCOPROTEINS; GLYCOSYLATION; HUMANS; INFANT; MANNANS; MANNOSYLTRANSFERASES; MEMBRANE PROTEINS; PROTEIN FOLDING;

EID: 67650135460     PISSN: 09596658     EISSN: 14602423     Source Type: Journal    
DOI: 10.1093/glycob/cwp067     Document Type: Article

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