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
PCSK9 and Lipid Metabolism: Genetic Variants, Current Therapies, and Cardiovascular Outcomes.
Grejtakova D et al.
Cardiovascular Drugs and Therapy, 2025
GWAS of lipids in Greenlanders finds association signals shared with Europeans and reveals an independent PCSK9 association signal.
Senftleber NK et al.
European Journal of Human Genetics : Ejhg, 2024
Targeting PCSK9 to tackle cardiovascular disease.
Hummelgaard S et al.
Pharmacology & Therapeutics, 2023
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD et al.
Nature, 2021
PCSK9: A Multi-Faceted Protein That Is Involved in Cardiovascular Biology.
Sundararaman SS et al.
Biomedicines, 2021
Protective lipid-lowering variants in healthy older individuals without coronary heart disease.
Lacaze P et al.
Open Heart, 2021
PCSK9 Gene Participates in the Development of Primary Dyslipidemias.
Matías-Pérez D et al.
Balkan Journal of Medical Genetics : Bjmg, 2021
Physiology and role of PCSK9 in vascular disease: Potential impact of localized PCSK9 in vascular wall.
Guo Y et al.
Journal of Cellular Physiology, 2021
Regulation of PCSK9 Expression and Function: Mechanisms and Therapeutic Implications.
Xia XD et al.
Frontiers in Cardiovascular Medicine, 2021
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.
Nielsen JB et al.
Nature Communications, 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
PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.
Guo Q et al.
Frontiers in Genetics, 2020
The Arg499His gain-of-function mutation in the C-terminal domain of PCSK9.
Sánchez-Hernández RM et al.
Atherosclerosis, 2019
Identifying individual risk rare variants using protein structure guided local tests (POINT).
Marceau West R et al.
Plos Computational 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
Update on the molecular biology of dyslipidemias.
Ramasamy I
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Therapeutic Potential and Critical Analysis of the PCSK9 Monoclonal Antibodies Evolocumab and Alirocumab.
White CM
The Annals of Pharmacotherapy, 2015
Both rare and common variants in PCSK9 influence plasma low-density lipoprotein cholesterol level in American Indians.
Tsai CW et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
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
Leucine 10 allelic variant in signal peptide of PCSK9 increases the LDL cholesterol-lowering effect of statins in patients with familial hypercholesterolaemia.
Pisciotta L et al.
Nutrition, Metabolism, and Cardiovascular Diseases : Nmcd, 2012
The influence of PCSK9 polymorphisms on serum low-density lipoprotein cholesterol and risk of atherosclerosis.
Davignon J et al.
Current Atherosclerosis Reports, 2010
The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations.
De Castro-Orós I et al.
The Application of Clinical Genetics, 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
Structural and biochemical characterization of the wild type PCSK9-EGF(AB) complex and natural familial hypercholesterolemia mutants.
Bottomley MJ et al.
The Journal of Biological Chemistry, 2009
Characterization of novel mutations in the catalytic domain of the PCSK9 gene.
Cameron J et al.
Journal of Internal Medicine, 2008
Molecular population genetics of PCSK9: a signature of recent positive selection.
Ding K et al.
Pharmacogenetics and Genomics, 2008
Identification and characterization of two non-secreted PCSK9 mutants associated with familial hypercholesterolemia in cohorts from New Zealand and South Africa.
Homer VM et al.
Atherosclerosis, 2008
Genetic heterogeneity of autosomal dominant hypercholesterolemia.
Varret M et al.
Clinical Genetics, 2008
Effect of ezetimibe coadministered with statins in genotype-confirmed heterozygous FH patients.
Pisciotta L et al.
Atherosclerosis, 2007
[After the LDL receptor and apolipoprotein B, autosomal dominant hypercholesterolemia reveals its third protagonist: PCSK9].
Abifadel M et al.
Annales D'endocrinologie, 2007
Structural and biophysical studies of PCSK9 and its mutants linked to familial hypercholesterolemia.
Cunningham D et al.
Nature Structural & Molecular Biology, 2007
Proprotein convertase subtilisin/kexin type 9, its variants and regulation of low-density lipoprotein cholesterol.
Wierzbicki AS
Current Opinion in Lipidology, 2007
Proapoptotic effects of NARC 1 (= PCSK9), the gene encoding a novel serine proteinase.
Bingham B et al.
Cytometry. Part a : the Journal of the International Society for Analytical Cytology, 2006
[PCSK9, from gene to protein: a new actor involved in cholesterol homeostasis].
Abifadel M et al.
Medecine Sciences : M/s, 2006
The proprotein convertase (PC) PCSK9 is inactivated by furin and/or PC5/6A: functional consequences of natural mutations and post-translational modifications.
Benjannet S et al.
The Journal of Biological Chemistry, 2006
Effect of mutations in the PCSK9 gene on the cell surface LDL receptors.
Cameron J et al.
Human Molecular Genetics, 2006
Missense mutations in the PCSK9 gene are associated with hypocholesterolemia and possibly increased response to statin therapy.
Berge KE et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2006
Low-density lipoprotein receptor activity in Epstein-Barr virus-transformed lymphocytes from heterozygotes for the D374Y mutation in the PCSK9 gene.
Holla ØL et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2006
Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia.
Allard D et al.
Human Mutation, 2005
Proprotein convertase subtilisin kexin 9: the third locus implicated in autosomal dominant hypercholesterolemia.
Maxwell KN et al.
Current Opinion in Lipidology, 2005
[PCSK9: a new gene involved in familial hypercholesteremia].
Lambert G et al.
Medecine Sciences : M/s, 2004
Post-transcriptional regulation of low density lipoprotein receptor protein by proprotein convertase subtilisin/kexin type 9a in mouse liver.
Park SW et al.
The Journal of Biological Chemistry, 2004
NARC-1/PCSK9 and its natural mutants: zymogen cleavage and effects on the low density lipoprotein (LDL) receptor and LDL cholesterol.
Benjannet S et al.
The Journal of Biological Chemistry, 2004
Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia.
Leren TP
Clinical Genetics, 2004