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Congenital Disorders of Glycosylation, Dolichol and Glycosylphosphatidylinositol Metabolism

  • Chapter
Inborn Metabolic Diseases

Zusammenfassung

Numerous proteins are glycosylated with monosaccharides and/or oligosaccharide structures also termed glycans, attached to the polypeptide chain. Most extracellular proteins, such as serum proteins, most membrane proteins and several intracellular proteins (such as lysosomal enzymes), are glycoproteins. The glycans are defined by their linkage to the protein: N-glycans are linked to the amide group of asparagine, and O-glycans are linked to the hydroxyl group of serine or threonine. Glycosylphosphatidylinositol anchors are glycolipids that tether more than 150 proteins to the outer leaflet of plasma membranes. Congenital disorders of glycosylation are due to defects in the synthesis of glycans and in the attachment of glycans to proteins and lipids. It is a rapidly growing disease family, as the number of known CDG has doubled since the previous edition of this book.

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Author information

Authors and Affiliations

  1. Centre for Metabolic Diseases, Department of Pediatrics, University Hospital Gasthuisberg, Herestraat 49, 3000, Leuven, Belgium

    Jaak Jaeken

  2. Tulane University Medical School, Hayward Genetics Center, 1430 Tulane Avenue SL-31, 70112, New Orleans, LA, USA

    Eva Morava

Authors
  1. Jaak Jaeken
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  2. Eva Morava
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Corresponding authors

Correspondence to Jaak Jaeken or Eva Morava .

Editor information

Editors and Affiliations

  1. Department of Neurology, Neurometabolic Unit, Hôpital Pitié Salpêtrière, Paris, France

    Jean-Marie Saudubray

  2. Division of Metabolism, University Children’s Hospital, Zurich, Switzerland

    Matthias R. Baumgartner

  3. Willink Biochemical Genetics Unit Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK

    John Walter

  4. Central Manchester University Hospitals NHS Foundation Trust, St Mary‘s Hospital, Manchester, UK

    John Walter

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Jaeken, J., Morava, E. (2016). Congenital Disorders of Glycosylation, Dolichol and Glycosylphosphatidylinositol Metabolism. In: Saudubray, JM., Baumgartner, M., Walter, J. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49771-5_41

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  • DOI: https://doi.org/10.1007/978-3-662-49771-5_41

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-49769-2

  • Online ISBN: 978-3-662-49771-5

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