title: Glycosylation disorders of membrane trafficking.
abstract: During evolution from prokaryotic to eukaryotic cells, compartmentalization of cellular functions has been achieved with a high degree of complexity. Notably, all secreted and transmembrane proteins travel through endoplasmic reticulum (ER) and Golgi apparatus, where they are synthesized, folded and subjected to covalent modifications, most particularly glycosylation. N-glycosylation begins in the ER with synthesis and transfer of glycan onto nascent protein and proceeds in Golgi apparatus where maturation occurs. This process not only requires the precise localization of glycosyltransferases, glycosidases and substrates but also an efficient, finely regulated and bidirectional vesicular trafficking among membrane-enclosed organelles. Basically, it is no surprise that alterations in membrane transport or related pathways can lead to glycosylation abnormalities. During the last few years, this has particularly been highlighted in genetic diseases called CDG (Congenital Disorders of Glycosylation). Alterations in mechanisms of vesicle formation due to COPII coat component SEC23B deficiency, or in vesicles tethering, caused by defects of the COG complex, but also impaired Golgi pH homeostasis due to ATP6V0A2 defects have been discovered in CDG patients. This mini review will summarize these fascinating discoveries.
authors.affiliation: CNRS-UMR 8576, Unit of Structural and Functional Glycobiology, IFR 147, University of Lille 1, 59655, Villeneuve d'Ascq, France.
authors.forename: Claire
authors.initials: C
authors.lastname: Rosnoblet
authors.forename: Romain
authors.initials: R
authors.lastname: Peanne
authors.forename: Dominique
authors.initials: D
authors.lastname: Legrand
authors.forename: François
authors.initials: F
authors.lastname: Foulquier
mesh_terms: D033942:Adaptor Proteins, Vesicular Transport / Q000172:deficiency / Q000235:genetics / Q000378:metabolism; D000818:Animals; D002465:Cell Movement; D018981:Congenital Disorders of Glycosylation / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D004721:Endoplasmic Reticulum / Q000201:enzymology / Q000378:metabolism; D006026:Glycoside Hydrolases / Q000378:metabolism; D006031:Glycosylation; D016695:Glycosyltransferases / Q000378:metabolism; D006056:Golgi Apparatus / Q000201:enzymology / Q000378:metabolism; D006801:Humans
chemical_list: D033942:Adaptor Proteins, Vesicular Transport; D016695:Glycosyltransferases; D006026:Glycoside Hydrolases