Molecular basis of lysosomal storage disorders : [proceedings of the Conference on the Molecular Basis of Lysosomal Storage Disorders, held at the National Institutes of Health, Bethesda, Maryland, September 12-14, 1983

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. Content: Front Matter , Page iii Copyright , Page iv Contributors , Pages ix-xiv Preface , Page xv Introduction , Pages xvii-xix OLD DIVERSIONS AND NEW DIRECTIONS IN ENZYME PURIFICATION , Pages 3-17 , D. Robinson FUNCTION AND RELEVANCE OF ACTIVATOR PROTEINS FOR GLYCOLIPID DEGRADATION , Pages 19-49 , Konrad Sandhoff CEREBROSIDE SULFATASE ACTIVATOR DEFICIENCY , Pages 51-60 , Arvan L. Fluharty, Hayato Kihara STUDIES ON THE SPHINGOLIPID ACTIVATOR PROTEIN FOR THE ENZYMATIC HYDROLYSIS OF GM1 GANGLIOSIDE AND SULFATIDE , Pages 61-78 , David A. Wenger, Koji Inui THE OCCURRENCE AND PHYSIOLOGICAL SIGNIFICANCE OF ACTIVATOR PROTEINS ESSENTIAL FOR THE ENZYMIC HYDROLYSIS OF GM1 AND GM2 GANGLIOSIDES , Pages 79-91 , Yu-Teh Li, Su-Chen Li THE COHYDROLASES FOR CEREBROSIDE β-GLUCOSIDASE , Pages 93-112 , Norman S. Radin COMBINED β-GALACTOSIDASE-SIALIDASE DEFICIENCY IN MAN: GENETIC DEFECT OF A “PROTECTIVE PROTEIN” , Pages 113-131 , Hans Galjaard, Alessandra d'Azzo, André Hoogeveen, Frans Verheijen LYSOSOMAL STORAGE DISORDERS CAUSED BY INSTABILITY OF THE MISSING ENZYMES , Pages 133-146 , Kurt von Figura, Andrej Hasilik, Friedhelm Steckel Asialoglycoprotein Catabolism by Hepatocytes: Insights from Perturbation of the Endocytic Pathway , Pages 149-162 , Joe Harford, Richard D. Klausner, Allan W. Wolkoff, Kenneth R. Bridges, Gilbert Ashwell THE ROLE OF ACIDIFICATION IN TRANSPORT OF ACID HYDROLASES TO LYSOSOMES , Pages 163-174 , William S. Sly M.D., Jeffrey H. Grubb, Joan M. Moehring, Thomas J. Moehring EVIDENCE FOR A MANNOSE 6-PHOSPHATE-INDEPENDENT PATHWAY FOR LYSOSOMAL ENZYME TARGETING , Pages 175-193 , Christopher A. Gabel, Daniel E. Goldberg, Stuart Kornfeld Adsorptive Pinocytosis and Intracellular Transport of Lysosomal Enzymes: The Role of the Phosphomannosyl Receptor , Pages 195-208 , George W. Jourdian, Diane Mitchell, Thomas Maler, Jack J. Distler The Mannose Recognition Pathway-Implications for Lysosome Physiology , Pages 209-218 , Philip D. Stahl, Thomas E. Wileman, Virginia L. Shepherd INTERACTION OF HUMAN PLACENTAL GLUCOCEREBROSIDASE WITH HEPATIC LECTINS , Pages 219-232 , F. Scott Furbish, Katherine L. Oliver, Gregory C. Zirzow, Roscoe O. Brady, John A. Barranger BIOSYNTHESIS OF LYSOSOMAL ENZYMES , Pages 235-249 , Ann H. Erickson, Gregory E. Conner, Günter Blobel DEFECTIVE SYNTHESIS OR MATURATION OF THE α-CHAIN OF β-HEXOSAMINIDASE IN CLASSIC AND VARIANT FORMS OF TAY-SACHS DISEASE , Pages 251-256 , Elizabeth F. Neufeld, Alessandra d'Azzo, Richard L. Proia THE INTERMEDIATE HEXOSAMINIDASES OF PLACENTA AND THEIR RELATIONSHIP TO PRECURSOR PROCESSING , Pages 257-271 , J.A. LOWDEN, D. MAHURAN, B. O'DOWD, R. GRAVEL, F. TSUI PROCESSING OF HUMAN LYSOSOMAL α-GLUCOSIDASE , Pages 273-284 , Joseph M. Tager, Ronald Oude Elferink, Arnold J.J. Reuser, John Hilkens, Jo Hilgers GENETIC HETEROGENEITY IN LYSOSOMAL STORAGE DISORDERS STUDIED BY SOMATIC CELL HYBRIDIZATION , Pages 287-309 , Arnold J.J. Reuser GENETIC HETEROGENEITY OF GAUCHER'S DISEASE , Pages 311-323 , John A. Barranger, Gary J. Murray, Edward I. Ginns CHROMOSOMAL LOCALIZATION OF THE STRUCTURAL GENES ENCODING THE HUMAN LYSOSOMAL HYDROLASES AND THEIR ACTIVATOR AND STABILIZER PROTEINS , Pages 325-363 , Kenneth H. Astrin, Robert J. Desnick STRATEGIES FOR THE MOLECULAR CLONING OF LOW ABUNDANCE MESSENGER RNAs , Pages 365-385 , Arthur L. Horwich, Jan P. Kraus, Leon E. Rosenberg CLONING OF LYSOSOMAL GENES , Pages 387-403 , John S. O'Brien, Jeffrey de Wet, Hisao Fukushima, Edward Wilcox, Nazneen Dewji, Juli McGee, Thomas Warner, Akira Yoshida, Arvan Fluharty, Fred Hill, Donald Helinski cDNA CLONING OF ACID ALPHA-GLUCOSIDASE , Pages 405-408 , Ad Konings BONE MARROW TRANSPLANTATION IN MUCOPOLYSACCHARIDOSES , Pages 411-428 , Kenneth Hugh-Jones, John Hobbs, David Chambers, Susan White, Nigel Byrom, Stanley Williamson, John Barrett, Kristin Henry, Desmond Patrick BONE MARROW TRANSPLANTATION IN SEVERE GAUCHER'S DISEASE: RAPID CORRECTION OF ENZYME DEFICIENCY ACCOMPANIED BY CONTINUED LONG TERM SURVIVAL OF STORAGE CELLS , Pages 429-440 , Edward I. Ginns, Daniel B. Caplan, Joel M. Rappeport, John A. Barranger BONE MARROW TRANSPLANTATION IN THE NORRBOTTNIAN FORM OF GAUCHER DISEASE , Pages 441-459 , Lars Svennerholm, Jan-Eric Månsson, Olle Nilsson, Elisabeth Tibblin, Anders Erikson, Carl-Gustav Groth, Göran Lundgren, Olle Ringdén ENZYME REPLACEMENT IN THE SPHINGOLIPIDOSES , Pages 461-478 , Roscoe O. Brady STATE OF THE ART , Pages 481-494 , Roscoe O. Brady, John A. Barranger Index , Pages 495-502