Molecular Basis of Lysosomal Storage Disorders

1st Edition - January 1, 1984
Editor: John Barranger
Language: English
eBook ISBN:
9 7 8 - 0 - 3 2 3 - 1 4 7 2 8 - 6

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… Read more

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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.

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

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

Index