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
ENaC gene variants and their involvement in Covid‑19 severity.
Koniari E et al.
Biomedical Reports, 2024
Novel Finnish-enriched variants causing severe hypercholesterolemia and their clinical impact on coronary artery disease.
Junna N et al.
Atherosclerosis, 2023
New Loss-of-Function Mutations in PCSK9 Reduce Plasma LDL Cholesterol.
Meng FH et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2023
Human 8-cell embryos enable efficient induction of disease-preventive mutations without off-target effect by cytosine base editor.
Wei Y et al.
Protein & Cell, 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 reveals damaging gene variants associated with hypoalphalipoproteinemia.
Dong W et al.
Journal of Lipid Research, 2022
Screening for Familial Hypercholesterolemia in Small Towns: Experience from 11 Brazilian Towns in the Hipercolbrasil Program.
Jannes CE et al.
Arquivos Brasileiros De Cardiologia, 2022
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
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 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
The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.
Meshkov A et al.
Genes, 2021
Cascade screening and genetic diagnosis of familial hypercholesterolemia in clusters of the Southeastern region from Brazil.
de Paiva Silvino JP et al.
Molecular Biology Reports, 2020
Beyond cholesterol metabolism: The pleiotropic effects of proprotein convertase subtilisin/kexin type 9 (PCSK9). Genetics, mutations, expression, and perspective for long-term inhibition.
Cesaro A et al.
Biofactors (oxford, England), 2020
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
Proprotein Convertase Subtilisin/Kexin-Type 9 and Lipid Metabolism.
Guo S et al.
Advances in Experimental Medicine and Biology, 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
Low LDL Cholesterol by PCSK9 Variation Reduces Cardiovascular Mortality.
Benn M et al.
Journal of the American College of Cardiology, 2019
Relationship of Familial Hypercholesterolemia and High Low-Density Lipoprotein Cholesterol to Ischemic Stroke: Copenhagen General Population Study.
Beheshti S et al.
Circulation, 2018
[Family History of Cardiovascular Disease in Patients With Early Development of Acute Coronary Syndrome].
Averkova AO et al.
Kardiologiia, 2018
Genetics, Lifestyle, and Low-Density Lipoprotein Cholesterol in Young and Apparently Healthy Women.
Balder JW et al.
Circulation, 2018
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
Low LDL cholesterol, PCSK9 and HMGCR genetic variation, and risk of Alzheimer's disease and Parkinson's disease: Mendelian randomisation study.
Benn M et al.
Bmj (clinical Research Ed.), 2017
Complexity of mechanisms among human proprotein convertase subtilisin-kexin type 9 variants.
Dron JS et al.
Current Opinion in Lipidology, 2017
Update on the molecular biology of dyslipidemias.
Ramasamy I
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Protective alleles and modifier variants in human health and disease.
Harper AR et al.
Nature Reviews. Genetics, 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 inhibition in LDL cholesterol reduction: genetics and therapeutic implications of very low plasma lipoprotein levels.
Marais AD et al.
Pharmacology & Therapeutics, 2015
Mutation in the PCSK9 Gene in Omani Arab Subjects with Autosomal Dominant Hypercholesterolemia and its Effect on PCSK9 Protein Structure.
Al-Waili K et al.
Oman Medical Journal, 2013
Pooled DNA resequencing of 68 myocardial infarction candidate genes in French canadians.
Beaudoin M et al.
Circulation. Cardiovascular Genetics, 2012
Proprotein convertase subtilisin/kexin type 9 (PCSK9): from structure-function relation to therapeutic inhibition.
Tibolla G et al.
Nutrition, Metabolism, and Cardiovascular Diseases : Nmcd, 2011
A PCSK9-binding antibody that structurally mimics the EGF(A) domain of LDL-receptor reduces LDL cholesterol in vivo.
Ni YG et al.
Journal of Lipid Research, 2011
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
The influence of PCSK9 polymorphisms on serum low-density lipoprotein cholesterol and risk of atherosclerosis.
Davignon J et al.
Current Atherosclerosis Reports, 2010
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
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
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
Unravelling the functional significance of PCSK9.
Lambert G
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
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