title: Congenital disorders of glycosylation type I leads to altered processing of N-linked glycans, as well as underglycosylation.
abstract: The N-linked glycans on transferrin and alpha(1)-antitrypsin from patients with congenital disorders of glycosylation type I have increased fucosylation and branching relative to normal controls. The elevated levels of monofucosylated biantennary glycans are probably due to increased alpha-(1-->6) fucosylation. The presence of bi- and trifucosylated triantennary and tetra-antennary glycans indicated that peripheral alpha-(1-->3), as well as core alpha-(1-->6), fucosylation is increased. Altered processing was observed on both the fully and underglycosylated glycoforms.
authors.affiliation: Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health at Great Ormond Street Hospital, University College London, 30 Guilford Street, London, WC1N 1EH, UK.
authors.forename: P
authors.initials: P
authors.lastname: Mills
authors.forename: K
authors.initials: K
authors.lastname: Mills
authors.forename: P
authors.initials: P
authors.lastname: Clayton
authors.forename: A
authors.initials: A
authors.lastname: Johnson
authors.forename: D
authors.initials: D
authors.lastname: Whitehouse
authors.forename: B
authors.initials: B
authors.lastname: Winchester
mesh_terms: D000581:Amidohydrolases; D002239:Carbohydrate Metabolism, Inborn Errors / Q000145:classification / Q000378:metabolism*; D002240:Carbohydrate Sequence; D016022:Case-Control Studies; D015180:Electrophoresis, Gel, Two-Dimensional; D005643:Fucose / Q000737:chemistry / Q000378:metabolism; D006031:Glycosylation; D006801:Humans; D008969:Molecular Sequence Data; D043524:Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase; D011134:Polysaccharides / Q000737:chemistry / Q000378:metabolism*; D011499:Protein Processing, Post-Translational; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; D014168:Transferrin / Q000737:chemistry / Q000378:metabolism; D000515:alpha 1-Antitrypsin / Q000737:chemistry / Q000378:metabolism
chemical_list: D011134:Polysaccharides; D014168:Transferrin; D000515:alpha 1-Antitrypsin; D005643:Fucose; D000581:Amidohydrolases; D043524:Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase