Hypobetalipoproteinemia and abetalipoproteinemia

Several mutations in the apoB, proprotein convertase subtilisin/kexin type 9 (PCSK9), and MTP genes result in low or absent levels of apoB and LDL-cholesterol in plasma, which cause familial hypobetalipoproteinemia and abetalipoproteinemia. Mutations in the ANGPTL3 gene cause familial combined hypol...

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Veröffentlicht in:	Current opinion in lipidology 2014-06, Vol.25 (3), p.161-168
1. Verfasser:	Welty, Francine K
Format:	Artikel
Sprache:	eng
Schlagworte:	Abetalipoproteinemia - blood Abetalipoproteinemia - genetics Angiopoietin-like Proteins Angiopoietins - genetics Angiopoietins - metabolism Apolipoproteins B - blood Apolipoproteins B - genetics Biological Transport, Active - genetics Carcinoma, Hepatocellular - blood Carcinoma, Hepatocellular - genetics Cholesterol, LDL - blood Cholesterol, LDL - genetics Coronary Artery Disease - blood Coronary Artery Disease - genetics Humans Hypobetalipoproteinemia, Familial, Apolipoprotein B - blood Hypobetalipoproteinemia, Familial, Apolipoprotein B - genetics Lipid Metabolism - genetics Liver Cirrhosis - blood Liver Cirrhosis - genetics Liver Neoplasms - blood Liver Neoplasms - genetics Mutation Proprotein Convertase 9 Proprotein Convertases - genetics Proprotein Convertases - metabolism Serine Endopeptidases - genetics Serine Endopeptidases - metabolism Triglycerides - blood Triglycerides - genetics
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