1,721,080 research outputs found
Genetics of familial hypobetalipoproteinemia
Full text linkPrimary hypobetalipoproteinemias include three monogenic disorders: the relatively frequent codominant familial hypobetalipoproteinemia (FHBL), the rare recessive conditions abetalipoproteinemia (ABL) and chylomicron retention disease (CMRD). Approximately 50% of FHBL patients are carriers of mutations in the APOB gene, mostly causing the formation of truncated forms of ApoB. In some kindred, FHBL is linked to a locus on chromosome 3 (3p21), but the candidate gene is still unknown. Recently, a FHBL-like phenotype was observed in carriers of mutations of the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene causing loss-of-function of the encoded protein, a proprotein convertase that regulates LDL-receptor number in the liver. Inactivation of the PCSK9 protein is associated with an increased number of LDL receptors and increased receptor-mediated hepatic uptake of plasma LDL. ABL and CMRD are due to mutations in the microsomal triglyceride transfer protein and Sar1-ADP-ribosylation GTPase 2 genes, which affect assembly and secretion of ApoB-containing lipoproteins. In this review we present the current information on the genetics and pathophysiology of these disorders affecting either the secretion or the catabolism of ApoB-containing lipoproteins
Isolation and characterization of an agglutinin present in the haemolymph of the freshwater snail Planorbarius corneus (L.) (Gastropoda, pulmonata)
No full text1. 1. An agglutinin was isolated from the haemolymph of Planorbarius corneus by affinity chromatography on Sephadex gel G 150. 2. 2. Molecular weight of the agglutinin as determined by polyacrylamide gel electrophoresis was 130,000 daltons. 3. 3. The agglutinin is a glycoprotein. 4. 4. The presence of taurine and N-acetylmuramic acid is discussed. © 1986
Purification of an induced bacterial agglutinin in the freshwater snail planorbarius corneus (L.) (gastropoda, pulmonata)
No full textAn induced agglutinin was observed in Planorbarius corneus after challenge with living Staphylococcus aureus. Purified agglutinin has a MW of about 330-350 kilodaltons and shows an agglutinin titer of 128. This agglutinin does not present antibacterial activity. © 1989 Taylor & Francis Group, LLC
Hepatic synthesis of apolipoprotein AI in rats with nephrotic syndrome. Changes in hepatic mRNA for ApoAI
No full textFamilial combined hypolipidemia due to mutations in the ANGPTL3 gene
Full text linkThe role of ANGPTL3 in lipoprotein metabolism emerged from studies in a mutant mouse strain characterized by
severe hypotriglyceridemia and carrying a loss-of-function (LOF) mutation of the ANGPTL3 gene. ANGPTL3 was found to inhibit lipoprotein lipase and endothelial lipase. Genome-wide association studies in humans demonstrated
the association of ANGPTL3 variants with plasma triglyceride levels and LOF mutations of ANGPTL3 were found in
hypotriglyceridemic subjects in population studies. Recently, individuals originally classified as affected by familial hypobetalipoproteinemia were found to be homozygotes/compound heterozygotes for rare LOF mutations of
ANGPTL3. They show a striking reduction of all lipoprotein classes (VLDL, LDL and HDL), a condition defined as familial combined hypolipidemia. This disorder,transmitted as a recessive trait, does not seem to be associated
with specific clinical manifestations, such as premature atherosclerosis or fatty liver disease
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