title: Alkynyl monosaccharide analogues as a tool for evaluating Golgi glycosylation efficiency: application to Congenital Disorders of Glycosylation (CDG).
abstract: The visualization of Golgi glycosylation defects in patients' cells with Congenital Disorders of Glycosylation (CDG) is challenging and necessitates the use of cumbersome glycan analysis methods that are barely adapted to clinical research. We show here that metabolic labelling of patient cells with alkyne-tagged sialic-acid (SiaNAl) enables an easy and reliable readout assay for the detection of CDG occurrence. It also provides valuable clues regarding the pathological processes by assessing the distribution of sialic acid analogues within the cells.
authors.affiliation: Université Lille1, UGSF, F-59650 Villeneuve d'Ascq, France. yann.guerardel@univ-lille1.fr francois.foulquier@univ-lille1.fr.
authors.forename: Jorick
authors.initials: J
authors.lastname: Vanbeselaere
authors.forename: Dorothée
authors.initials: D
authors.lastname: Vicogne
authors.forename: Gert
authors.initials: G
authors.lastname: Matthijs
authors.forename: Christophe
authors.initials: C
authors.lastname: Biot
authors.forename: François
authors.initials: F
authors.lastname: Foulquier
authors.forename: Yann
authors.initials: Y
authors.lastname: Guerardel
mesh_terms: D000480:Alkynes / Q000737:chemistry; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D005347:Fibroblasts / Q000378:metabolism / Q000473:pathology; D005456:Fluorescent Dyes / Q000737:chemistry; D006031:Glycosylation; D006056:Golgi Apparatus / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D009005:Monosaccharides / Q000737:chemistry; D012794:Sialic Acids / Q000737:chemistry
chemical_list: D000480:Alkynes; D005456:Fluorescent Dyes; D009005:Monosaccharides; D012794:Sialic Acids