Lipid Storage Disorders: Biological and Medical Aspects

Front Matter....Pages i-xvii
Front Matter....Pages 1-1
The Medical Importance of the Research on Lipid Storage Diseases with a Historical Review on the Advances in Gaucher Disease....Pages 5-17
The Molecular Biology of Gaucher Disease....Pages 19-27
Characterization of the Normal Human Glucocerebrosidase Genes and a Mutated Form in Gaucher’s Patient....Pages 29-39
Molecular Biology of Gaucher Disease: Therapeutic Strategies Utilizing Recombinant DNA Technology....Pages 41-50
Molecular Properties of Lysosomal Glucocerebrosidase....Pages 51-56
Comparison of Human Membrane-Bound β-Glucosidases: Lysosomal Glucosylceramide-β-Glucosidase and Non-Specific β-Glucosidase....Pages 57-61
β-Glucocerebrosidase: Mechanistic Studies With Covalent and Non-Covalent Inhibitors....Pages 63-72
Comparison of the Acidic Lipid Requirement of Control and Type 1 Gaucher’s Disease Liver and Brain Glucocerebrosidases....Pages 73-82
Heterogeneity in Human Acid β-Glucosidase with Cellulose-Acetate Electrophoresis....Pages 83-88
Etiology of a New Identified Gaucher Disease Variant without Glucosylceramidase Defect....Pages 89-95
Type 3 Gaucher Disease: Clinical and Biological Heterogeneity....Pages 97-101
Parkinsonian Symptomatology in a Patient with Type I (Adult) Gaucher’s Disease....Pages 103-105
Acid Sphingomyelinase from Human Urine: Purification and Characterisation....Pages 109-118
Lysosomal Sphingomyelinase: Patients with Niemann-Pick Disease Have Normal Amounts of Sphingomyelinase Polypeptide....Pages 119-128
Sphingomyelin Storage in Lymphoid Cell Lines from Patients with Niemann-Pick Disease Types A, B and C: Influence of Culture Conditions....Pages 129-133
Turnover of Docosahexaenoic Acid in Bis(Monoacylglycero)Phosphate Induced in Niemann-Pick Fibroblasts by Incubation in the Presence of Excess Fatty Acid....Pages 135-140
Heterogeneity and Special Features of the Storage Process in Niemann-Pick Disease....Pages 141-151
Family with Profound Sphingomyelinase Deficiency Resisting Closer Subclassification....Pages 153-161
Adult Niemann-Pick Disease with Psychiatric Involvement....Pages 163-166
Niemann-Pick Disease Type C: A Lesion in Intracellular Cholesterol Transport....Pages 169-173
Front Matter....Pages 1-1
Pathophysiological Approach of Niemann-Pick Disease Type C: Definition of a Biochemical Heterogeneity and Reevaluation of the Lipid Storage Process....Pages 175-185
Increase in Sterol Synthesis and Decrease in Cholesterol Efflux in Niemann-Pick Disease Type C Fibroblasts....Pages 187-192
Abnormal Cholesterol Metabolism in Primary Brain Cultures of the Lysosomal Cholesterol Storage Disorder (LCSD) Murine Mutant....Pages 193-200
Studies on Lysosomal Storage Diseases in Cell Culture: Niemann-Pick Disease Type D....Pages 201-212
Molecular Genetics of β-N-Acetylhexosaminidase α Subunit Mutations....Pages 215-223
The Molecular Biology of β-Hexosaminidase: Localization of the Proteolytic Processing and Carbohydrate Containing Sites....Pages 225-236
G M2 -Gangliosidosis: Bl Variant with Thermostable β-Hexosaminidase A and Molecular Analysis of the Mutant Enzyme....Pages 237-245
Diagnosis of Hexosaminidase a Deficiency with Sulphated Substrate: Evidence for an alpha-Locus Genetic Compound in a Tay-Sachs Variant....Pages 247-252
Clinical and Neurophysiological Changes in Carriers from a Family with Type O Chronic GM2-Gangliosidosis with Als Phenotype....Pages 253-258
Immunochemical Studies of Cerebroside Sulphatase....Pages 261-265
Correlation Between Degradation of Sulfatide in Cultured Skin Fibroblasts and Residual Arylsulfatase A Activity....Pages 267-271
Biochemical and Ultrastructural Studies of a Fetus with Arylsulfatase A Deficiency....Pages 273-278
Galactosylsphingosine in Murine and Human Tissues of Normal and Globoid Cell Leukodystrophy Cases....Pages 279-284
Histoenzymological Study of One Case of Fabry Disease Before and After Transplantation....Pages 285-289
α-L-Fucosidase : On the Specificity of the Two Forms of Normal Human Sera and Their Possible Relationship to Fucosidosis....Pages 291-294
Molecular Characterization Of Mutations Causing Fucosidosis in Italy....Pages 295-303
Human Placental Sialidase: Substrate Specificity, Molecular Size and Purification....Pages 305-314
Metabolism of Extracellular Triacylglycerols (From Lipoproteins) in a Woman Lymphoid Cell Line....Pages 315-319
The Physiological Roles of Activator Proteins for Lysosomal Glycolipid Degradation....Pages 323-332
Isoelectric Focusing in Immobilized pH Gradients : A New Approach for the Study of the SAP-1 Binding to Lipids....Pages 333-336
Front Matter....Pages 1-1
Studies on the Defect in SAP-1 (Sulfatide/G M1 Activator)-Deficient Patients....Pages 337-345
The Role of a New Glucosylceramidase Activator Protein in the Binding of the Enzyme to its Natural Substrate....Pages 347-352
Splenic Glucocerebrosidase and Its Cytosolic Activator Protein: Effects on Substrate Hydrolysis and Covalent Inhibition by Conduritol B Epoxides....Pages 353-358
Front Matter....Pages 359-359
Peroxisomal Disorders of Lipid Catabolism....Pages 361-367
Genetic Diseases Affecting Peroxisomal Lipid Biosynthesis....Pages 369-380
Complementation Analysis of Peroxisomal Diseases: Kinetics of Assembly of Peroxisomes After Fusion of Complementary Cell Lines from Patients Deficient in Peroxisomes....Pages 381-387
Heterogeneity of Beta-Oxidation Enzyme Defects in Peroxisomal Diseases....Pages 389-394
Beta-Oxidation of Omega-Hydroxymonocarboxylic Acids in Rat Liver Peroxisomes and Mitochondria....Pages 395-403
Identification of the Enzymic Defect in X-Linked Adrenoleukodystrophy: Oxidation of Very Long Chain Fatty Acids is Deficient Due to an Impaired Ability of Peroxisomes to Activate Very Long Chain Fatty Acids....Pages 405-412
The Metabolism of Dicarboxylic Acids in Rat Liver....Pages 413-417
Mammalian Metabolism of Phytanic Acid : Recent Findings....Pages 419-422
Very Long Chain Fatty Acids and Phytanic Acid in Genetic Peroxisomal Diseases....Pages 423-428
Genetic Peroxisomal Disorders: GC-MS and SIM-GC-MS Detection Of Pipecolic and Phytanic Acids....Pages 429-434
Neonatal Adrenoleukodystrophy: Ultrastructural Variability in Cultured Skin Fibroblasts from Two Skin Biopsies of the Same Case....Pages 435-441
Front Matter....Pages 443-443
Use of 1-Pyrenedecanoic Acid for Demonstrating the Catabolic Block of Cytoplasmic Triacylglycerols in a Lymphoid Cell Line Established from a Patient Affected with Multisystemic Lipid Storage Myopathy (Type 3)....Pages 445-449
Alkane Storage Disease (Very Long Chain N-Alkanes): An Original Type of Lipid Storage of Dietary Origin from Plant Wax Hydrocarbons....Pages 451-456
Physical Alterations of Plasma Lipoproteins in Tangier Disease and Their Hypothetic Involvement in Pathogenesis....Pages 457-461
Late Infantile Neuronal Ceroid Lipofuscinosis : Abnormalities in the Polyunsaturated Fatty Acid Profiles of Phospholipids in Cultured Skin Fibroblasts....Pages 463-473
Some Characteristics of Skin Fibroblasts from Ceroid-Lipofuscinosis Cultivated In Vitro....Pages 475-481
Front Matter....Pages 483-483
Radiation Fragmentation and Inactivation of Membrane Proteins: Interpretation of Data for Normal and Muted Oligomers....Pages 487-497
Front Matter....Pages 483-483
Microscale Synthesis Of Fluorescent Cholesteryl Esters for the Study of Lysosomal Cholesteryl Esterases and Diagnosis of Wolman Disease....Pages 499-502
Determination of Sphingomyelinase Activity in Cells and Body Fluids Using a New Fluorescent Derivative Of Sphingomyelin: Application to Diagnosis of Niemann-Pick Disease....Pages 503-509
Determination of Arylsulfatase a Activity Using Pyrene Derivatives of Cerebroside Sulfate....Pages 511-515
Use of New Fluorescent Triacylglycerols for Determining Lipase Activities and Diagnosing Wolman Disease....Pages 517-522
Use of New Fluorescent Lipids for the Study of the Organization and Dynamics of Lipids in Membranes....Pages 523-532
Continuous Spectrofluorometric Measurements of the Dispersion State and the Uptake of Pyrene Dodecanoic Acid by Liposomes and Cells....Pages 533-536
One Step Purification of Pancreatic Cholesterol Ester Hydrolase: Application to the Related Enzyme of Human Milk....Pages 539-543
Clinical Diversity in Lysosomal Storage Disorders: Molecular and Cellular Aspects....Pages 547-558
Gangliosides: Uptake, Intracellular Transport and Metabolism in Normal and Mutant Cells....Pages 559-562
Use of Lipidotic Cultured Cells (From Wolman Disease and Multisytemic Lipid Storage Myopathy) for Studying the Metabolic Relations between the Cellular Compartments Containing Neutral Lipids....Pages 563-570
Administration of Fluorescent Derivatives of Lipids into Cultured Cells and its Use for Detecting Disorders of Lipid Metabolism....Pages 571-582
Effect of Albumin or Serum on the Uptake and Degradation of Pyrene Cerebroside Sulfate by Lymphoblasts and Skin Fibroblasts....Pages 583-588
Mitogenic Effect of High Density Lipoprotein (HDL) on Lymphoblastoid Cells Involved HMG-CoA Reductase Activity....Pages 589-593
Metabolism of Psychosine in SV40-Transformed Schwann Cell Lines....Pages 595-600
Psychosine and Sphingosylphosphorylcholine Bind to Mitochondrial Membranes and Disrupt their Function....Pages 601-606
β-Galactosidase and α-Fucosidase of Human Fibroblasts Show Hardly Binding to the Mannose 6-Phosphate Receptor in Comparison with β-Hexosaminidase....Pages 607-612
In Vivo Uptake and Metabolism of Lactosylceramide on LDL in Homozygotes with Familial Hypercholesterolemia....Pages 613-623
Effect of Tricyclic Antidepressants on Lysosomal Sphingomyelinase Activity....Pages 627-634
Castanospermine-Induced Deficiency of Lysosomal β-D-Glucosidase: A Model of Gaucher’s Disease in Fibroblasts....Pages 635-641
The Molecular Basis of Canine Fucosidosis....Pages 643-647
Front Matter....Pages 483-483
Alpha-Mannosidase Deficiency in Persian Cats: A Model of Human Alpha-Mannosidosis....Pages 649-659
Sialidase Deficiency in the SM/J Mouse: A Physically Altered Mutant Enzyme in the Liver....Pages 661-666
Evolution of Lysosomal Proteins....Pages 669-674
Lysosomal Enzyme Activity in Rat Brain During Aging....Pages 675-679
Purification and Characterization of UDP-GAL: Ceramide Galactosyltransferase and Reconstitution of its Activity by Incorporation into Liposomes....Pages 681-687
Stimulation of Lipolytic Enzymes in Alzheimer’s Disease....Pages 689-698
The De Novo Synthesis of Choline in Primary Cultures of Rat and Chick Neurons....Pages 699-706
Effect of Ethanol Ingestion and Pentazocine Treatment on the Forebrain Gangliosides from Rat....Pages 707-711
Effect of Fish Oil Feeding on Rat Heart Lipids : Composition and Ultramicroscopic Study....Pages 713-718
Studies of Phospholipase A 2 Activity and Prostaglandin E 2 Levels in Rat Stomach Following the Ingestion of Fish Oil....Pages 719-723
Influence of Wheat Bran and Wheat Germ on Triglyceride and Cholesterol Absorption by the Rat Intestinal Mucosa....Pages 725-729
Glycoprotein Alterations in Lipid Storage Diseases....Pages 731-739
Hyperlipoproteinemia in Glycogen Storage Disease Type I: Effect of Nocturnal Intragastric Feeding....Pages 741-747
Clinical Heterogeneity of the Lipidoses — A Short Overview....Pages 751-760
Results of Diagnosis and Genetic Counseling of Sphingolipidoses in the GDR....Pages 761-764
A New Spot Test for the Screening of Pathological Urinary Sulfated Glycosaminoglycan Excretion....Pages 765-769
Differential Approaches to Therapy in Lysosomal Storage Disorders....Pages 771-778
Repeated Implantations of Human Amniotic Epithelial Cells as a Curative Therapy of Niemann-Pick Disease....Pages 779-784
Neurological Improvement Following Bone Marrow Transplantation in Twitcher Mice — Murine Globoid Cell Leukodystrophy....Pages 785-790
Gaucher Disease: Enzymatic and Molecular Studies....Pages 793-803
Front Matter....Pages 483-483
Clinical, Biochemical, Pathological “Zellweger-Like” Disorder with Morphologically Normal Peroxisomes....Pages 805-807
Human α-Galactosidase: Characterization and Eukaryotic Expression of the Full-Length cDNA and Structural Organization of the Gene....Pages 809-822
Back Matter....Pages 823-838