Lipid Storage Disorders

Biological and Medical Aspects
Herausgegeben von Salvayre, R.; Douste-Blazy, L.; Gatt, S.

• Gebundenes Buch

Produktbeschreibung

This book presents the proceedings of the meeting on "Lipid Storage Disorders" which took place in Toulouse, France, in September 14-18, 1987 and which was set up as a joint NATO Advanced Research Workshop and INSERM International Symposium. The meeting probably was the first truly international symposium devoted entirely to basic as well as applied aspects of lipid metabolism as related to the lipid storage disorders. Participants came from Europe, USA, Israel and Japan, and presented data on research in molecular biology and genetics, enzymology, cell biology as well as medical and epidemiological aspects of normal and pathological lipid metabolism. In the latter case, special attention was directed to the lysosomal B-glucosidase in relation to Gaucher disease and to sphin gomyelinase in relation to Niemann-Pick disease, and "two round" table discussions were devoted to the two respective items. But research on many other lipidoses was presented, as lectures or posters and avidly discussed. Other topics presented in special sessions were drug induced lipidoses and peroxisomal disorders. The meeting ended with a session devoted to medical aspects of disorders of lipid metabolism. The symposium which included about 50 lectures and close to 70 posters had an intense scientific character superimposed on a most pleasant and collegial atmosphere. Ample time was provided to personal discussions ; lodging of the participants in the students' residence located near the meeting place, permitted further contacts between them.

Produktdetails

• Nato Science Series A .150
• Verlag: Springer, Berlin
• 1988.
• Seitenzahl: 826
• Englisch
• Gewicht: 1660g
• ISBN-13: 9780306429286
• ISBN-10: 0306429284
• Artikelnr.: 24488392

Inhaltsangabe

'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