Associated Papers
PCSK9 and Lipid Metabolism: Genetic Variants, Current Therapies, and Cardiovascular Outcomes.
Grejtakova D et al.
Cardiovascular Drugs and Therapy, 2025
The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor.
Azar Y et al.
Atherosclerosis, 2024
Targeting PCSK9 to tackle cardiovascular disease.
Hummelgaard S et al.
Pharmacology & Therapeutics, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
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
A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene.
Tada H et al.
Internal Medicine (tokyo, Japan), 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
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 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
PCSK9 inhibition in the management of familial hypercholesterolemia.
Ogura M
Journal of Cardiology, 2018
PCSK9 Mutations in Familial Hypercholesterolemia: from a Groundbreaking Discovery to Anti-PCSK9 Therapies.
El Khoury P et al.
Current Atherosclerosis Reports, 2017
The Proprotein Convertases in Hypercholesterolemia and Cardiovascular Diseases: Emphasis on Proprotein Convertase Subtilisin/Kexin 9.
Seidah NG et al.
Pharmacological Reviews, 2017
Computational Study of PCSK9-EGFA Complex with Effective Polarizable Bond Force Field.
Chen J et al.
Frontiers in Molecular Biosciences, 2017
Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.
Hopkins PN et al.
Circulation. Cardiovascular Genetics, 2015
Protective alleles and modifier variants in human health and disease.
Harper AR et al.
Nature Reviews. Genetics, 2015
Plasma Membrane Tetraspanin CD81 Complexes with Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) and Low Density Lipoprotein Receptor (LDLR), and Its Levels Are Reduced by PCSK9.
Le QT et al.
The Journal of Biological Chemistry, 2015
Genetics of familial hypercholesterolemia.
Brautbar A et al.
Current Atherosclerosis Reports, 2015
Proprotein convertase subtilisin/kexin type 9 (PCSK9): lessons learned from patients with hypercholesterolemia.
Awan Z et al.
Clinical Chemistry, 2014
Alirocumab: PCSK9 inhibitor for LDL cholesterol reduction.
Tavori H et al.
Expert Review of Cardiovascular Therapy, 2014
Living the PCSK9 adventure: from the identification of a new gene in familial hypercholesterolemia towards a potential new class of anticholesterol drugs.
Abifadel M et al.
Current Atherosclerosis Reports, 2014
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
Loss- and gain-of-function PCSK9 variants: cleavage specificity, dominant negative effects, and low density lipoprotein receptor (LDLR) degradation.
Benjannet S et al.
The Journal of Biological Chemistry, 2012
Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia.
Abifadel M et al.
Atherosclerosis, 2012
Proprotein convertase subtilisin/kexin type 9: from the discovery to the development of new therapies for cardiovascular diseases.
Ferri N
Scientifica, 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
Update of the Portuguese Familial Hypercholesterolaemia Study.
Medeiros AM et al.
Atherosclerosis, 2010
New hypotheses about the structure-function of proprotein convertase subtilisin/kexin type 9: analysis of the epidermal growth factor-like repeat A docking site using WaterMap.
Pearlstein RA et al.
Proteins, 2010
Structure-based kernels for the prediction of catalytic residues and their involvement in human inherited disease.
Xin F et al.
Bioinformatics (oxford, England), 2010
Rare genetic causes of autosomal dominant or recessive hypercholesterolaemia.
Soutar AK
Iubmb Life, 2010
PCSK9: a convertase that coordinates LDL catabolism.
Horton JD et al.
Journal of Lipid Research, 2009
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.
Abifadel M et al.
Human Mutation, 2009
Degradation of LDLR protein mediated by 'gain of function' PCSK9 mutants in normal and ARH cells.
Fasano T et al.
Atherosclerosis, 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
A PCSK9 variant and familial combined hyperlipidaemia.
Abifadel M et al.
Journal of Medical Genetics, 2008
Functional analysis of sites within PCSK9 responsible for hypercholesterolemia.
Pandit S et al.
Journal of Lipid Research, 2008
[Perspectives in familial hypercholesterolemia: with particular reference to associated ischemic heart disease].
Miida T et al.
Journal of Cardiology, 1988
Proprotein convertase subtilisin/kexin 9 V4I variant with LDLR mutations modifies the phenotype of familial hypercholesterolemia.
Ohta N et al.
Journal of Clinical Lipidology, 0
Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries.
Santos RD et al.
Journal of Clinical Lipidology, 0