Titlebook: Human Apolipoprotein Mutants 2; From Gene Structure C. R. Sirtori,G. Franceschini,G. Assmann Book 1989 Springer Science+Business Media New

aspersion

The Molecular Basis of ApoC-II Deficiencyient from Hamburg, West Germany, was found to have a single base substitution (guanosine for a cytosine,) at the first base of the donor splice site of intron II of the apoC-II gene by sequence analysis. This mutation should abolish normal splicing at this site and ultimately lead to the deficiency

FIR

stratum-corneum

Biochemical Aspects and Molecular Study of a Case of Apo CII Deficitvolved in the metabolism of lipids. Thus variant forms of this protein or its plasmatic deficit are responsible for unbalanced lipid catabolism with clinical consequences: patients with familiar Apo CII deficiency develop severe hypertrigliceridaemia.

影响深远

The Molecular Basis of the Defect in Familial Combined Apolipoproteins AI and CIII Deficiencycontent through the integration of the pathways involved in cellular biosynthesis, uptake and secretion of cholesterol. Secreted cholesterol is transported through the plasma to the liver via a series of reactions collectively termed reverse cholesterol transport. A key step in reverse cholesterol i

欢呼

Familial Apolipoprotein A-I, C-III and A-IV Deficiencyso found within triglyceride-rich lipoprotein particles (1). Decreased levels of plasma HDL cholesterol and apoA-I have been demonstrated to be risk factors for premature coronary artery disease (CAD) (2,3). The genes coding for apoA-I, apoC-III, and apoA-IV are adjacent to one another on the long a

空中

Intact

Apolipoprotein B Genetic Dificiencestosis and/or intestinal fat malabsorption and fat accumulation in the enterocytes. In addition, intestinal and plasma transport of fat soluble vitamins (A, E, D, K) may be impaired which can lead to retinal degeneration and demyelinizing lesions of the central and peripheral nervous system.

不能逃避

Expression of Human APO AI, AII and CII Genes in Pro- and Eucaryotic Cellse most remarkable apo B and apo A. On the basis of these cloning experiments eventually the functionally and physiologically more important questions may be answered by expression studies of wild type apolipoprotein cDNA or genomic clones and particularly of mutagenized apolipoprotein genes.

精致

Cis-Acting Elements and Trans-Acting Factors Involved in Cell Type Specific Expression of the Human on we address the question, which DNA sequences of the human apo AI gene are responsible for its observed cell type specific expression, In addition, we investigated, if factors present in the nucleus of these cell types may be involved in the cell type specific expression of the human apo AI gene.

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