Article
[PCSK9: Structure and function. PCSK9 and low-density lipoprotein receptor. Mutations and their effects].
Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis - 1 May 2016
Pedro-Botet Juan, Badimón Lina
Abstract excerpt
Proprotein convertase subtilisin/kexin type 9 (PCSK9) binds to the low-density lipoprotein receptor (LDLr) and then targets it for lysosomal degradation in cells, thus preventing LDLr from recycling back to the hepatocyte surface, with a consequent decrease in LDLr density and clearance of LDL-cholesterol (LDLc). There have been reports of both gain-of-function mutations in the PCSK9 gene that cause a marked...
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