Lipid Storage Disorders
Kluwer Academic/Plenum Publishers (Verlag)
978-0-306-42928-6 (ISBN)
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Lysosomal Storage Diseases.- Beta-glucosidases and Gaucher diseases.- The medical importance of the research on lipid storage diseases with a historical review on the advances in Gaucher disease.- The molecular biology of Gaucher disease.- Characterization of the normal human glucocerebrosidase genes and a mutated form in Gaucher’s patient.- Molecular biology of Gaucher disease: therapeutic strategies utilizing recombinant DNA technology.- Molecular properties of lysosomal glucocerebrosidase.- Comparison of human membrane-bound beta-glucosidases: lysosomal glucosylceramide-beta-glucosidase and non-specific beta-glucosidase.- Beta-glucocerebrosidase: mechanistic studies with covalent and non-covalent inhibitors.- Comparison of the acidic lipid requirement of control and type 1 Gaucher’s disease liver and brain glucocerebrosidases.- Heterogeneity in human acid beta-glucosidase with cellulose-acetate electrophoresis.- Etiology of a new identified Gaucher disease variant without glucosylceramidase defect.- Type 3 Gaucher disease : clinical and biological heterogeneity.- Parkinsonian symptomatology in a patient with type I (adult) Gaucher disease.- Sphingomyelinase and Niemann-Pick types A and B.- Acid sphingomyelinase from human urine: purification and characterisation.- Lysosomal sphingomyelinase: patients with Niemann-Pick disease have normal amounts of sphingomyelinase polypeptide.- Sphingomyelin storage in lymphoid cell lines from patients with Niemann-Pick disease types A, B and C: influence of culture conditions.- Turnover of docosahexaenoic acid in bis(monoacylglycero)phosphate induced in Niemann-Pick fibroblasts by incubation in presence of excess fatty acid.- Heterogeneity and special features of the storage process in Niemann-Pick disease.- Family with profound sphingomyelinase deficiency resisting closer subclassification.- Adult Niemann-Pick disease with psychiatric involvement.- Niemann-Pick disease types C and D.- Niemann-Pick disease type C: a lesion in intracellular cholesterol transport.- Pathophysiological approach of Niemann-Pick disease type C: definition of a biochemical heterogeneity and reevaluation of the lipid storage process.- Increase in sterol synthesis and decrease in cholesterol efflux in Niemann-Pick disease type C fibroblasts.- Abnormal cholesterol metabolism in primary brain cultures of the lysosomal cholesterol storage disorder (LCSD) murine mutant.- Studies on lysosomal storage diseases in cell culture: Niemann-Pick disease type D.- Beta-hexosaminidases and GM2-gangliosidoses.- Molecular genetics of beta-N-acetyl hexosaminidase alpha subunit mutations.- The molecular biology of beta-hexosaminidase: localization of the proteolytic processing and carbohydrate containing sites.- GM2-ganliosidosis: B1 variant with thermostable beta-hexosaminidase A and molecular analysis of the mutant enzyme.- Diagnosis of hexosaminidase A deficiency with sulphated substrate: evidence for an alpha-locus genetic compound in a Tay-Sachs variant.- Clinical and neurophysiological changes in carriers from a family with type O chronic GM2-gangliosidosis with ALS phenotype.- Other lysosomal enzymes and storage diseases.- Immunochemical studies of cerebroside sulphatase.- Correlation between degradation of sulfatide in cultured skin fibroblasts and residual arylsulfatase A activity.- Biochemical and ultrastructural studies of a fetus with arylsulfatase A deficiency.- Galactosylsphingosine in murine and human tissues of normal and globoid cell leukodystrophy cases.- Histoenzymological study of one case of Fabry disease before and after transplantation.- Alpha-L-fiicosidase: on the specificity of the two forms of normal human sera and their possible relationship to fucosidosis.- Molecular characterization of mutations causing fucosidosis in Italy.- Human placental sialidase: substrate specificity, molecular size and purification.- Metabolism of extracellular triacylglycerols (from lipoproteins) in a Wolman lymphoid cell line.- Activators and related pathologies.- The physiological roles of activator proteins for lysosomal glycolipid degradation.- Isoelectric focusing in immobilized pH gradients: a new approach for the study of the SAP-1 binding to lipids.- Studies on the defect in SAP-1 (sulfatide/GM1 activator)-deficient patients.- The role of a new glucosylceramidase activator protein in the binding of the enzyme to its natural substrate.- Splenic glucocerebrosidase and its cytosolic activator protein: effects on substrate hydrolysis and covalent inhibition by conduritol B epoxides.- Peroxisomes And Peroxisomal Disorders.- Peroxisomal disorders of lipid catabolism.- Genetic diseases affecting peroxisomal lipid biosynthesis.- Complementation analysis of peroxisomal diseases: kinetics of assembly of peroxisomes after fusion of complementary cell lines from patients deficient in peroxisomes.- Heterogeneity of beta-oxidation enzyme defects in peroxisomal diseases.- Beta-oxidation of omega-hydroxymonocarboxylic acids in rat liver peroxisomes and mitochondria.- 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.- The metabolism of dicarboxylic acids in rat liver.- Mammalian metabolism of phytanic acid: recent findings.- Very long chain fatty acids and phytanic acid in genetic peroxisomal diseases.- Genetic peroxisomal disorders: GC-MS and SIM-GC-MS detection of pipecolic and phytanic acids.- Neonatal adrenoleukodystrophy. Ultrastructural variability in cultured skin fibroblasts from two skin biopsies of the same case.- Other Lipid Storage Disorders.- 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).- Alkane storage disease (very long chain N-alkanes): An original type of lipid storage of dietary origin from plant wax hydrocarbons.- Physical alterations of plasma lipoproteins in Tangier disease and their hypothetic involvement in pathogenesis.- Late infantile neuronal ceroid lipofuscinosis: abnormalities in the polyunsaturated fatty acid profiles of phospholipids in cultured skin fibroblasts.- Some characteristics of skin fibroblasts from ceroid-lipofuscinosis cultivated in vitro.- General Aspects Of Lipid Metabolism Related To Lipid Storage Disorders.- New methodologies.- Radiation fragmentation and inactivation of membrane proteins: interpretation of data for normal and muted oligomers.- Microscale synthesis of fluorescent cholesteryl esters for the study of lysosomal cholesteryl esterases and diagnosis of Wolman disease.- Determination of sphingomyelinase activity in cells and body fluids using a new fluorescent derivative of sphingomyelin; application to diagnosis of Niemann-Pick disease (application).- Determination of arylsulfatase A activity using pyrene derivatives of cerebroside sulfate.- Use of new fluorescent triacylglycerols for determining lipase activities and diagnosing Wolman disease.- Use of new fluorescent lipids for the study of the organization and dynamics of lipids in membranes.- Continuous spectrofluorometric measurements of the dispersion state and the uptake of pyrene dodecanoic acid by liposomes and cells.- One step purification of human pancreatic cholesterol ester hydrolase : application to the related enzyme of human milk.- Molecular and cellular biology and pathology.- Clinical diversity in lysosomal storage disorders: molecular and cellular aspects.- Gangliosides: uptake, intracellular transport and metabolism in normal and mutant cells.- Use of lipidotic cultured cells (from Wolman disease and multisystemic lipid storage myopathy) for studying the metabolic relations between the cellular compartments containing neutral lipids.- Administration of fluorescent derivatives of lipids into cultured cells and its use for detecting disorders of lipid metabolism.- Effect of albumin or serum on the uptake and degradation of pyrene cerebroside sulfate by lymphoblasts and skin fibroblasts.- Mitogenic effect of high density lipoprotein (HDL) on lymphoblastoid cells involved HMG-CoA reductase activity.- Metabolism of psychosine in SV40-transformed Schwann cell lines.- Psychosine and sphingosylphosphorylcholine bind to mitochondrial membranes and disrupt their function.- Beta-galactosidase and alpha-fucosidase of human fibroblasts show hardly binding to the mannose 6-phosphate receptor in comparison with beta-hexosaminidase.- In vivo uptake and metabolism of lactosylceramide on LDL in homozygotes with familial hypereholesterolemia.- Drug-induced models and animal models.- Effect of tricyclic antidepressants on lysosomal sphingomyelinase activity.- Castanospermine-induced deficiency of lysosomal beta-D-glucosidase: a model of Gaucher’s disease in fibroblasts.- The molecular basis of canine fucosidosis.- Alpha-mannosidase deficiency in persian cats: a model of human alpha-mannosidosis.- Sialidase deficiency in the SM/J mouse : a physically altered mutant enzyme in the liver.- Lipid metabolism and related enzymes.- Evolution of lysosomal proteins.- Lysosomal enzyme activity in rat brain during aging.- Purification and characterization of UDP-Gal: ceramide galactosyltransferase and reconstitution of its activity by incorporation into liposomes.- Stimulation of lipolytic enzymes in Alzheimer’s disease.- The de novo synthesis of choline in primary cultures of rat and chick neuron.- Effect of ethanol ingestion and pentazocine treatment on the forebrain gangliosides from rat.- Effect of fish oil feeding on rat heart lipids: composition and ultramicroscopic study.- Studies of phospholipase A2 activity and prostaglandin E2 levels in rat stomach following the ingestion of fish oil.- Influence of wheat bran and wheat germ on triglyceride and cholesterol absorption by the rat intestinal mucosa.- Glycoprotein alterations in lipid storage diseases.- Hyperlipoproteinemia in glycogen storage disease type I: effect of nocturnal intragastric feeding.- Diagnostic aspects and therapeutic trials.- Clinical heterogeneity of the lipidoses — A short overview.- Results of diagnosis and genetic counseling of sphingolipidoses in the GDR.- A new spot test for the screening of pathological urinary sulfated glycosaminoglycan excretion.- Differential approaches to therapy in lysosomal storage disorders.- Repeated implantations of human amniotic epithelial cells as a curative therapy of Niemann-Pick disease.- Neurological improvement following bone marrow transplantation in twitcher mice (murine globoid cell leukodystrophy).- Late submissions.- Gaucher Disease: enzymatic and molecular studies.- Clinical, biochemical, pathological “Zellweger-Like” disorder with morphologically normal peroxisomes.- Human alpha-galactosidase: characterization and TEukaryotic expression of the full-length cDNA and structural organization of the gene.- Participants.- Contributors.
Reihe/Serie | Nato Science Series: A ; 150 |
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Zusatzinfo | 826 p. |
Verlagsort | New York |
Sprache | englisch |
Gewicht | 1660 g |
Themenwelt | Medizin / Pharmazie ► Medizinische Fachgebiete |
Naturwissenschaften ► Biologie | |
ISBN-10 | 0-306-42928-4 / 0306429284 |
ISBN-13 | 978-0-306-42928-6 / 9780306429286 |
Zustand | Neuware |
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