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Human Apolipoprotein Mutants

From Gene Structure to Phenotypic Expression

Cesare Sirtori (Autor)

Buch | Hardcover

255 Seiten

1989
Kluwer Academic / Plenum Publishers (Verlag)
978-0-306-43213-2 (ISBN)

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The pleasant community of Limone suI Garda provided outstanding hospitality for a second NATO ARW dealing with apolipoprotein variants, which are natures clues for the discovery of the physiological roles of apolipoproteins in lipoprotein metabolism in normal subjects and patients with specific dyslipoproteinemias. Limone, the site of discovery of the first human apolipoprotein mutant, apoA-I-Milano, provided a brilliant sunny spring venue for more than 50 participants from both sides of the ocean. The attendance at the colorful opening ceremony of the ARW was one of the largest on record. Two members of the Italian government, the Secretaries of Health and the Navy, gave the welcoming addresses. Six television networks, two with national audiences, covered the international workshop. The Limone oracles provided a montage of insights gleamed from the eyes of the clinican, the biochemist, and the molecular biologist. The cumulative information on the molecular defects in lipoprotein metabolism reviewed by this diverse group of investigators provided an ever expanding horizon of new knowledge in this fast moving and some times perplexing field.
Clinical vignettes were presented on patients from throughout the world including Canada (Connelly), Turkey (Schmitz), and France (Infante) detailing the clinical sequelae of a defect in a specific apolipoprotein. The clinical importance of Lp(a), a lipoprotein relegated almost to obscurity for many years, has now taken v center stage.

Evolution and Control of Gene Expression.- Apolipoprotein Genes: Organization, Linkage and Evolution.- Apolipoprotein Variation: Effect on Plasma Lipid Variability.- Expression of Human Apo AI, AII and CII Genes in Pro- and Eucaryotic Cells.- Cis-Acting Elements and Trans-Acting Factors Involved in Cell Type Specific Expression of the Human Apolipoprotein AI Gene.- Human Apolipoprotein A-I: Studies on Gene Expression and Site-Directed Mutagenesis in E. Coli.- High Density Lipoproteins and Apo AI-Milano.- Apolipoprotein AI-Milano: Mechanisms for the Antiatherogenic Potential.- In Vivo Catabolism of Apolipoprotein A-I in Subjects with Familial Hypoalphalipoproteinemia.- Synthesis of Apolipoprotein A-I in the Skeletal Muscle of the Developing Chick.- Apolipoprotein-Specific High Density Lipoprotein Populations in Plasma of Carriers of the Apolipoprotein AI-Milano.- Apolipoprotein B.- Apo B Gene Variants Are Involved in Determining Serum Cholesterol Levels: towards Identifying these Variants.- Genetic Evidence that the Apolipoprotein Gene Is not Involved in Abetalipoproteinemia.- RFLPS of ApoB Gene.- Apolipoprotein B Genetic Deficiences.- Apolipoprotein C-II and C-III.- The Molecular Basis of Apo C-II Deficiency.- Familial Chylomicronemia Due to Mutations in Apolipoprotein CII: Apolipoprotein CII-Toronto and Apolipoprotein CII-St. Michael.- Apolipoprotein C-II Deficiency Syndrome: New Insights into the Molecular Mechanism Leading to the Disease in the Apo C-IIPadovaKindred.- Biochemical Aspects and Molecular Study a Case of Apo CII Deficit.- The Molecular Basis of the Defect in Familial Combined Apolipoproteins AI and CIII Deficiency.- Familial Apolipoprotein A-I, C-III and A-IV Deficiency.- Dyslipoproteinemias, Coronary Artery Disease and Diabetes.- Phenotypic Expression of Hepatic Lipase Deficiency.- Abnormal Processing of HDL Precursors in Tangier Monocyte Derived Macrophages.- Apo E Polymorphism in Relation to the Expression of Familial Dysbetalipoproteinemia.- Identification of an Italian Kindred with a Variant Apolipoprotein E (E1) Associated with Type III Hyperlipoproteinemia.- Normolipidemic Dyslipoproteinemia in Patients with Coronary Artery Disease.- Current Status on the Apo E-Receptor.- DNA Polymorphisms of the Glucose Transporter Gene in non-Insulin Dependent Diabetes Mellitus (NIDDM).- Lipoprotein Structure: Immunological Methods.- Computer-Modelling of Human Apolipoproteins and of their Mutants.- Monoclonal Antibodies to Human Apolipoprotein A-I.- Factors Affecting the Expression of Apolipoprotein A-I Epitopes and Screening for Mutants.- Characterization of Monoclonal Antibodies to Human Low Density Lipoprotein.- Apolipoprotein B: Immunological Methods for the Detection of Mutants.

Reihe/Serie	NATO Advanced Study Institute ; Vol 167
Zusatzinfo	89 black & white illustrations, biography
Verlagsort	Dordrecht
Sprache	englisch
Gewicht	650 g
Themenwelt	Naturwissenschaften ► Biologie ► Evolution
Themenwelt	Naturwissenschaften ► Biologie ► Genetik / Molekularbiologie
ISBN-10	0-306-43213-7 / 0306432137
ISBN-13	978-0-306-43213-2 / 9780306432132
Zustand	Neuware