Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.Q554E
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PCSK9

NM_174936.4:p.Q554E

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

Insights into PCSK9-LDLR Regulation and Trafficking via the Differential Functions of MHC-I Proteins HFE and HLA-C.

Mikaeeli S et al.

Cells, 2024

Targeting PCSK9 to tackle cardiovascular disease.

Hummelgaard S et al.

Pharmacology & Therapeutics, 2023

Molecular interactions of PCSK9 with an inhibitory nanobody, CAP1 and HLA-C: Functional regulation of LDLR levels.

Fruchart Gaillard C et al.

Molecular Metabolism, 2023

Emerging Insights on the Diverse Roles of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Chronic Liver Diseases: Cholesterol Metabolism and Beyond.

Grewal T et al.

International Journal of Molecular Sciences, 2022

Cyclase-associated protein 1 is a binding partner of proprotein convertase subtilisin/kexin type-9 and is required for the degradation of low-density lipoprotein receptors by proprotein convertase subtilisin/kexin type-9.

Jang HD et al.

European Heart Journal, 2020

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

PCSK9 Mutations in Familial Hypercholesterolemia: from a Groundbreaking Discovery to Anti-PCSK9 Therapies.

El Khoury P et al.

Current Atherosclerosis Reports, 2017

Identifying low density lipoprotein cholesterol associated variants in the Annexin A2 (ANXA2) gene.

Fairoozy RH et al.

Atherosclerosis, 2017

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

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

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

Annexin A2 reduces PCSK9 protein levels via a translational mechanism and interacts with the M1 and M2 domains of PCSK9.

Ly K et al.

The Journal of Biological Chemistry, 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

The influence of PCSK9 polymorphisms on serum low-density lipoprotein cholesterol and risk of atherosclerosis.

Davignon J et al.

Current Atherosclerosis Reports, 2010

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

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

Abifadel M et al.

Human Mutation, 2009

PCSK9 as a therapeutic target of dyslipidemia.

Seidah NG

Expert Opinion on Therapeutic Targets, 2009

[Monogenic hypercholesterolemias: new genes, new drug targets].

Mandel'shtam MIu et al.

Genetika, 2008

PCSK9: an enigmatic protease.

Lopez D

Biochimica Et Biophysica Acta, 2008

Molecular population genetics of PCSK9: a signature of recent positive selection.

Ding K et al.

Pharmacogenetics and Genomics, 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

[After the LDL receptor and apolipoprotein B, autosomal dominant hypercholesterolemia reveals its third protagonist: PCSK9].

Abifadel M et al.

Annales D'endocrinologie, 2007

The cellular trafficking of the secretory proprotein convertase PCSK9 and its dependence on the LDLR.

Nassoury N et al.

Traffic (copenhagen, Denmark), 2007

A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.

Kotowski IK et al.

American Journal of Human Genetics, 2006

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