Molecular Basis of Lysosomal Storage Disorders

Molecular Basis of Lysosomal Storage Disorders

1st Edition - January 1, 1984

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  • Editor: John Barranger
  • eBook ISBN: 9780323147286

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Molecular Basis of Lysosomal Storage Disorders contains the proceedings of the 1983 Conference on the Molecular Basis of Lysosomal Storage Disorders, held at the National Institutes of Health in Bethesda, Maryland. The papers focus on the molecular biology of, and therapeutic approaches to, lysosomal storage disorders, such as mucopolysaccharidoses, sphingolipidoses, and Gaucher disease. Organized into six sections comprised of 29 chapters, this book begins with an overview of enzymes, activator proteins, and stabilizers that underlie lysosomal storage disorders. It then discusses some developments in enzyme purification, receptors for glycoprotein enzymes, factors that control endocytosis, and the intracellular fate of lysosomal hydrolases. Some chapters explain the enzyme biosynthesis, bone marrow transplantation, and enzyme replacement, along with cell hybridization, chromosome localization, phenotype discrimination, and cloning of genes for human lysosomal enzymes. This book is helpful to biochemists, physiologists, pathologists, geneticists, clinical investigators, and practicing physicians concerned with the study, care, and treatment of patients with hereditary metabolic disorders, as well as undergraduate and graduate level students involved in research in this discipline.

Table of Contents

  • Contributors



    I Enzymes, Activator Proteins, and Stabilizers

    1. Old Diversions and New Directions in Enzyme Purification

    2. Function and Relevance of Activator Proteins for Glycolipid Degradation

    3. Cerebroside Sulfatase Activator Deficiency

    4. Studies on the Sphingolipid Activator Protein for the Enzymatic Hydrolysis of G M l Ganglioside and Sulfatide

    5. The Occurrence and Physiological Significance of Activator Proteins Essential for the Enzymic Hydrolysis of G M l and G M 2 Gangliosides

    6. The Cohydrolases for Cerebroside β-Glucosidase

    7. Combined β-Galactosidase-Sialidase Deficiency in Man: Genetic Defect of a "Protective Protein" 113

    8. Lysosomal Storage Disorders Caused by Instability of the Missing Enzymes

    II Transportation of Molecules into the Lysosomal Compartment

    9. Asialoglycoprotein Catabolism by Hepatocytes: Insights from Perturbation of the Endocytic Pathway

    10. The Role of Acidification in Transport of Acid Hydrolases to Lysosomes

    11. Evidence for a Mannose 6-Phosphate-Independent Pathway for Lysosomal Enzyme Targeting

    12. Adsorptive Pinocytosis and Intracellular Transport of Lysosomal Enzymes: The Role of the Phosphomannosyl Receptor

    13. The Mannose Recognition Pathway—Implications for Lysosome Physiology

    14. Interaction of Human Placental Glucocerebrosidase with Hepatic Lectins

    III Biosynthesis of Lysosomal Enzymes

    15. Biosynthesis of Lysosomal Enzymes

    16. Defective Synthesis or Maturation of the α-Chain of β-Hexosaminidase in Classic and Variant Forms of Tay-Sachs Disease

    17. The Intermediate Hexosaminidases of Placenta and Their Relationship to Precursor Processing

    18. Processing of Human Lysosomal α-Glucosidase

    IV Molecular Genetic Aspects of Lysosomal Enzymes

    19. Genetic Heterogeneity in Lysosomal Storage Disorders Studied by Somatic Cell Hybridization

    20. Genetic Heterogeneity of Gaucher's Disease

    21. Chromosomal Localization of the Structural Genes Encoding the Human Lysosomal Hydrolases and Their Activator and Stabilizer Proteins

    22. Strategies for the Molecular Cloning of Low Abundance Messenger RNAs

    23. Cloning of Lysosomal Genes

    24. cDNA Cloning of Acid Alpha-Glucosidase

    V Therapeutic Approaches to Lysosomal Storage Disorders

    25. Bone Marrow Transplantation in Mucopolysaccharidoses

    26. Bone Marrow Transplantation in Severe Gaucher's Disease: Rapid Correction of Enzyme Deficiency Accompanied by Continued Long Term Survival of Storage Cells

    27. Bone Marrow Transplantation in the Norrbottnian Form of Gaucher Disease

    28. Enzyme Replacement in the Sphingolipidoses

    VI State of the Art

    29. State of the Art


Product details

  • No. of pages: 522
  • Language: English
  • Copyright: © Academic Press 1984
  • Published: January 1, 1984
  • Imprint: Academic Press
  • eBook ISBN: 9780323147286

About the Editor

John Barranger

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