Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.S462P
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PCSK9

NM_174936.4:p.S462P

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

Genetic Variants, Bioactive Compounds, and PCSK9 Inhibitors in Hyper-LDL-Cholesterolemia: A GWAS and In Silico Study on Cardiovascular Disease Risk.

Liu M et al.

Nutrients, 2025

Targeting PCSK9 to tackle cardiovascular disease.

Hummelgaard S et al.

Pharmacology & Therapeutics, 2023

The Emerging Roles of Intracellular PCSK9 and Their Implications in Endoplasmic Reticulum Stress and Metabolic Diseases.

Lebeau PF et al.

Metabolites, 2022

Protective lipid-lowering variants in healthy older individuals without coronary heart disease.

Lacaze P et al.

Open Heart, 2021

PCSK9 Biology and Its Role in Atherothrombosis.

Barale C et al.

International Journal of Molecular Sciences, 2021

Construction of point mutation rabbits using CRISPR/Cas9.

Yan K et al.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 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

The role of the C-terminal domain of PCSK9 and SEC24 isoforms in PCSK9 secretion.

Deng SJ et al.

Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 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

31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf

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

PCSK9: From Basic Science Discoveries to Clinical Trials.

Shapiro MD et al.

Circulation Research, 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

Development of vaccine for dyslipidemia targeted to a proprotein convertase subtilisin/kexin type 9 (PCSK9) epitope in mice.

Kawakami R et al.

Plos One, 2018

Complexity of mechanisms among human proprotein convertase subtilisin-kexin type 9 variants.

Dron JS et al.

Current Opinion in Lipidology, 2017

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

Molecular and cellular function of the proprotein convertase subtilisin/kexin type 9 (PCSK9).

Schulz R et al.

Basic Research in Cardiology, 2015

PCSK9 inhibition in LDL cholesterol reduction: genetics and therapeutic implications of very low plasma lipoprotein levels.

Marais AD et al.

Pharmacology & Therapeutics, 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

A proprotein convertase subtilisin-like/kexin type 9 (PCSK9) C-terminal domain antibody antigen-binding fragment inhibits PCSK9 internalization and restores low density lipoprotein uptake.

Ni YG et al.

The Journal of Biological Chemistry, 2010

Mutation S462P in the PCSK9 gene reduces secretion of mutant PCSK9 without affecting the autocatalytic cleavage.

Cameron J et al.

Atherosclerosis, 2009

Commentary PCSK9 variants: A new database.

Leigh SE et al.

Atherosclerosis, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."