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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.
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
- No. of pages:
- © Academic Press 1984
- 1st January 1984
- Academic Press
- eBook ISBN:
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