Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.A522T
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PCSK9

NM_174936.4:p.A522T

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

Targeting PCSK9 to tackle cardiovascular disease.

Hummelgaard S et al.

Pharmacology & Therapeutics, 2023

Dynamics of the personalities of PCSK9 on missense variants (rs505151 and rs562556) from elderly cohort studies in Brazil.

Galvão Lopes V et al.

Journal of Biomolecular Structure & Dynamics, 2023

Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.

Cong PK et al.

Clinical and Translational Medicine, 2022

35538921 (PubMed )
Supplement: CTM2-12-e866-s001.docx

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

34341098 (PubMed )
Supplement: openhrt-2021-001710supp001.xlsx › RPVs_literature

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

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

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

Dron JS et al.

Current Opinion in Lipidology, 2017

The Proprotein Convertases in Hypercholesterolemia and Cardiovascular Diseases: Emphasis on Proprotein Convertase Subtilisin/Kexin 9.

Seidah NG et al.

Pharmacological Reviews, 2017

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

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

The M2 module of the Cys-His-rich domain (CHRD) of PCSK9 protein is needed for the extracellular low-density lipoprotein receptor (LDLR) degradation pathway.

Saavedra YG et al.

The Journal of Biological Chemistry, 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

Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.

Abifadel M et al.

Human Mutation, 2009

A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterol.

Fasano T et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2007

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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."