Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.D374Y
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PCSK9

NM_174936.4:p.D374Y

Associated Papers

Identification of a peptide inhibitor disrupting the PCSK9-LDLR interaction via pharmacophore-based virtual screening, molecular dynamics simulations and in vitro/vivo evaluation.

Wu W et al.

Journal of Enzyme Inhibition and Medicinal Chemistry, 2026

Structural Change of ApoE-Lipid Nanoparticles Alters Receptor-Mediated Endocytosis and Induces Endosomal Disruption.

Mo Y et al.

Journal of the American Chemical Society, 2026

Little Evidence of Atherosclerosis in a Middle-Aged Japanese Woman with Familial Hypercholesterolemia Carrying PCSK9 (p.Glu32Lys) and ABCG8 (p.Ile419Asn) Variants Despite Elevated Lipoprotein(a) Levels.

Aono K et al.

Internal Medicine (tokyo, Japan), 2025

PCSK9 and Lipid Metabolism: Genetic Variants, Current Therapies, and Cardiovascular Outcomes.

Grejtakova D et al.

Cardiovascular Drugs and Therapy, 2025

Genetic Determinants of the Familial Hypercholesterolaemia Phenotype.

Humphries SE et al.

Annals of Human Genetics, 2025

Targeting Liver Epsins Ameliorates Dyslipidemia in Atherosclerosis through Inhibition of Proprotein Convertase Subtilisin/Kexin Type 9-Mediated Low-density Lipoprotein Receptor Degradation.

Zhu B et al.

Biorxiv : the Preprint Server for Biology, 2025

PCSK9 Promotes LDLR Degradation by Preventing SNX17-Mediated LDLR Recycling.

Guan Y et al.

Circulation, 2025

40071387 (PubMed )
Supplement: supplementary_materials_-clean.docx

Structural dynamics of LDL receptor interactions with E498A and R499G variants of PCSK9.

Azhar NAA et al.

Journal of Molecular Modeling, 2025

Does Genotype Affect the Efficacy of PCSK9 Inhibitors in the Treatment of Familial Hypercholesterolemia?

Tandirerung FJ

Cardiovascular Drugs and Therapy, 2025

The interplay of LDLR, PCSK9, and lncRNA- LASER genes expression in coronary artery disease: Implications for therapeutic interventions.

Ghiasvand T et al.

Prostaglandins & Other Lipid Mediators, 2025

Mechanisms underlying the effects of the conditional knockdown of hepatic PCSK9 in attenuating lipopolysaccharide-induced acute liver inflammation.

Miao M et al.

International Journal of Biological Macromolecules, 2025

A commonly inherited human PCSK9 germline variant drives breast cancer metastasis via LRP1 receptor.

Mei W et al.

Cell, 2025

[Mechanism of the Molecular Pathophysiology for Familial Hypercholesterolemia].

Hori M

Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2025

Polymorphisms in the proprotein convertase subtilisin/kexin type 9 gene in clinically diagnosed patients with familial hypercholesterolemia.

Costa ALDS et al.

Revista Da Associacao Medica Brasileira (1992), 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

PCSK9 Inhibitors: The Evolving Future.

Jeswani BM et al.

Health Science Reports, 2024

PCSK9 inhibition protects mice from food allergy.

Lorant V et al.

Translational Research : the Journal of Laboratory and Clinical Medicine, 2024

A novel small-molecule PCSK9 inhibitor E28362 ameliorates hyperlipidemia and atherosclerosis.

Wang WZ et al.

Acta Pharmacologica Sinica, 2024

The multifaceted role of PCSK9 in cancer pathogenesis, tumor immunity, and immunotherapy.

Hsu CY et al.

Medical Oncology (northwood, London, England), 2024

Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?

Stevens CAT et al.

Journal of the American Heart Association, 2024

38879446 (PubMed )
Supplement: JAH3-13-e034434-s001.pdf

Development of a PCSK9-targeted nanoparticle vaccine to effectively decrease the hypercholesterolemia.

Fang Q et al.

Cell Reports. Medicine, 2024

Analysis of the Correlation between FH and PCSK9 and APOB Gene Mutations in Han and Mongolian Populations of the Hulunbuir.

Gao W et al.

Clinical Laboratory, 2024

Drug development advances in human genetics-based targets.

Zhang X et al.

Medcomm, 2024

Targeting proprotein convertase subtilisin/kexin type 9 (PCSK9): from bench to bedside.

Bao X et al.

Signal Transduction and Targeted Therapy, 2024

Genetic backgrounds and diagnosis of familial hypercholesterolemia.

Rogozik J et al.

Clinical Genetics, 2024

The role of proprotein convertase subtilisin/kexin 9 (PCSK9) in macrophage activation: a focus on its LDL receptor-independent mechanisms.

Katsuki S et al.

Frontiers in Cardiovascular Medicine, 2024

Pericentrin deficiency in smooth muscle cells augments atherosclerosis through HSF1-driven cholesterol biosynthesis and PERK activation.

Majumder S et al.

Jci Insight, 2023

Predictive Modeling and Structure Analysis of Genetic Variants in Familial Hypercholesterolemia: Implications for Diagnosis and Protein Interaction Studies.

Larrea-Sebal A et al.

Current Atherosclerosis Reports, 2023

Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.

Ibrahim S et al.

Circulation. Genomic and Precision Medicine, 2023

37675602 (PubMed )
Supplement: hcg-16-462-s001.pdf

Familial dyslipidemias: Genotype-phenotype relationship.

Sánchez-Hernández RM et al.

Endocrinologia, Diabetes Y Nutricion, 2023

Current Data and New Insights into the Genetic Factors of Atherogenic Dyslipidemia Associated with Metabolic Syndrome.

Butnariu LI et al.

Diagnostics (basel, Switzerland), 2023

Cardiomyocyte-specific PCSK9 deficiency compromises mitochondrial bioenergetics and heart function.

Laudette M et al.

Cardiovascular Research, 2023

36880401 (PubMed )
Supplement: cvad041_supplementary_data.zip › Supplemental_PCSK9_CLEAN_R4_FINAL.pdf

Functional Characterization of p.(Arg160Gln) PCSK9 Variant Accidentally Found in a Hypercholesterolemic Subject.

Larrea-Sebal A et al.

International Journal of Molecular Sciences, 2023

SKI-1/S1P Facilitates SARS-CoV-2 Spike Induced Cell-to-Cell Fusion via Activation of SREBP-2 and Metalloproteases, Whereas PCSK9 Enhances the Degradation of ACE2.

Essalmani R et al.

Viruses, 2023

PCSK9 facilitates melanoma pathogenesis via a network regulating tumor immunity.

Gu Y et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2023

PCSK9-D374Y Suppresses Hepatocyte Migration through Downregulating Free Cholesterol Efflux Rate and Activity of Extracellular Signal-Regulated Kinase.

Huang L et al.

Analytical Cellular Pathology (amsterdam), 2023

Effect of PCSK9 on atherosclerotic cardiovascular diseases and its mechanisms: Focus on immune regulation.

Ma M et al.

Frontiers in Cardiovascular Medicine, 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

Proteomics and Lipidomics to unveil the contribution of PCSK9 beyond cholesterol lowering: a narrative review.

Gianazza E et al.

Frontiers in Cardiovascular Medicine, 2023

PCSK9 in Liver Cancers at the Crossroads between Lipid Metabolism and Immunity.

Alannan M et al.

Cells, 2022

Recent Update on the Development of PCSK9 Inhibitors for Hypercholesterolemia Treatment.

Ahamad S et al.

Journal of Medicinal Chemistry, 2022

Molecular and cellular biology of PCSK9: impact on glucose homeostasis.

Tchéoubi SER et al.

Journal of Drug Targeting, 2022

A Novel, Orally Bioavailable, Small-Molecule Inhibitor of PCSK9 With Significant Cholesterol-Lowering Properties In Vivo.

Suchowerska AK et al.

Journal of Lipid Research, 2022

Expanding Biology of PCSK9: Roles in Atherosclerosis and Beyond.

Seidah NG et al.

Current Atherosclerosis Reports, 2022

PCSK9 Inhibition: From Current Advances to Evolving Future.

Liu C et al.

Cells, 2022

Proprotein convertase subtilisin/kexin type 9 inhibitor non responses in an adult with a history of coronary revascularization: A case report.

Yang L et al.

World Journal of Clinical Cases, 2022

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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."