Molecular Basis of Lysosomal Storage Disorders - 1st Edition - ISBN: 9780120792801, 9780323147286

Molecular Basis of Lysosomal Storage Disorders

1st Edition

Editors: John Barranger
eBook ISBN: 9780323147286
Imprint: Academic Press
Published Date: 1st January 1984
Page Count: 522
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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 Preface Introduction 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


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© Academic Press 1984
Academic Press
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About the Editor

John Barranger

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