Associated Papers
Structural dynamics of PCSK9 loss-of-function variants: implications for LDL cholesterol regulation and cardiovascular risk.
Tarique M et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2025
Polymorphisms in the proprotein convertase subtilisin/kexin type 9 gene in clinically diagnosed patients with familial hypercholesterolemia.
Costa ALDS et al.
Revista Da Associacao Medica Brasileira (1992), 2025
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.
Ibrahim S et al.
Circulation. Genomic and Precision Medicine, 2023
Targeting PCSK9 to tackle cardiovascular disease.
Hummelgaard S et al.
Pharmacology & Therapeutics, 2023
Proprotein convertase subtilisin/kexin type 9 genetic screening using the vervet (Chlorocebus aethiops) model.
Ngqaneka T et al.
Journal of Medical Primatology, 2023
Effects of PCSK9 missense variants on molecular conformation and biological activity in transfected HEK293FT cells.
Los B et al.
Gene, 2023
Whole-exome sequencing identifies novel protein-altering variants associated with serum apolipoprotein and lipid concentrations.
Sandholm N et al.
Genome Medicine, 2022
Pathogenic gain-of-function mutations in the prodomain and C-terminal domain of PCSK9 inhibit LDL binding.
Sarkar SK et al.
Frontiers in Physiology, 2022
Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants.
Pottinger TD et al.
Journal of the American Heart Association, 2020
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
Identification of a Helical Segment within the Intrinsically Disordered Region of the PCSK9 Prodomain.
Ultsch M et al.
Journal of Molecular Biology, 2019
Stepwise processing analyses of the single-turnover PCSK9 protease reveal its substrate sequence specificity and link clinical genotype to lipid phenotype.
Chorba JS et al.
The Journal of Biological Chemistry, 2018
Studies of the autoinhibitory segment comprising residues 31-60 of the prodomain of PCSK9: Possible implications for the mechanism underlying gain-of-function mutations.
Wierød L et al.
Molecular Genetics and Metabolism Reports, 2016
PCSK9 variation and association with blood pressure in African Americans: preliminary findings from the HyperGEN and REGARDS studies.
Tran NT et al.
Frontiers in Genetics, 2015
Effects of the prosegment and pH on the activity of PCSK9: evidence for additional processing events.
Benjannet S et al.
The Journal of Biological Chemistry, 2010
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.
Abifadel M et al.
Human Mutation, 2009
Molecular population genetics of PCSK9: a signature of recent positive selection.
Ding K et al.
Pharmacogenetics and Genomics, 2008
Evidence for positive selection in the C-terminal domain of the cholesterol metabolism gene PCSK9 based on phylogenetic analysis in 14 primate species.
Ding K et al.
Plos One, 2007
[After the LDL receptor and apolipoprotein B, autosomal dominant hypercholesterolemia reveals its third protagonist: PCSK9].
Abifadel M et al.
Annales D'endocrinologie, 2007
A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.
Kotowski IK et al.
American Journal of Human Genetics, 2006