title: Developmental diseases caused by impaired nucleotide sugar transporters.
abstract: Nucleotide sugar transporters play critical roles in glycosylation of proteins, lipids and proteoglycans, which are essential for organogenesis, development, mammalian cellular immunity and pathogenicity of human pathogenic agents. Functional deficiencies of these transporters result in global defects of glycoconjugates, which in turn lead to a diversity of biochemical, physiological and pathological phenotypes. In this short review, we will highlight human and bovine diseases caused by mutations of these transporters.
authors.affiliation: Department of Molecular and Cell Biology, Boston University Goldman School of Dental Medicine, Evans-E438, 72 East Concord Street, Boston, MA 02118, USA.
authors.forename: Li
authors.initials: L
authors.lastname: Liu
authors.forename: Carlos B
authors.initials: CB
authors.lastname: Hirschberg
mesh_terms: D000595:Amino Acid Sequence / Q000235:genetics; D000818:Animals; D001692:Biological Transport / Q000235:genetics*; D050260:Carbohydrate Metabolism; D002417:Cattle; D006031:Glycosylation; D006056:Golgi Apparatus / Q000378:metabolism / Q000473:pathology; D006801:Humans; D026901:Membrane Transport Proteins / Q000378:metabolism; D009154:Mutation; D009711:Nucleotides / Q000235:genetics / Q000378:metabolism; D010641:Phenotype
chemical_list: D026901:Membrane Transport Proteins; D009711:Nucleotides