Pathogenic gain-of-function mutations in the prodomain and C-terminal domain of PCSK9 inhibit LDL binding

Pathogenic gain-of-function mutations in the prodomain and C-terminal domain of PCSK9 inhibit LDL binding

Proprotein convertase subtilisin/kexin type-9 (PCSK9) is a secreted protein that binds and mediates endo-lysosomal degradation of low-density lipoprotein receptor (LDLR), limiting plasma clearance of cholesterol-rich LDL particles in liver. Gain-of-function (GOF) point mutations in PCSK9 are associa...

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Bibliographic Details
Main Authors: Samantha K. Sarkar, Angela Matyas, Ikhuosho Asikhia, Zhenkun Hu, Mia Golder, Kaitlyn Beehler, Tanja Kosenko, Thomas A. Lagace
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-09-01
Series:Frontiers in Physiology
Subjects:
LDLR, low density lipoprotein receptor
LDL-C, LDL-cholesterol
PCSK9, proprotein convertase subtilisin/kexin type 9
FH, familial hypercholesterolemia
GOF, gain-of-function
Online Access:https://www.frontiersin.org/articles/10.3389/fphys.2022.960272/full

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