Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.Q152H
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PCSK9

NM_174936.4:p.Q152H

Associated Papers

PCSK9 Regulates Cardiac Mitochondrial Cholesterol by Promoting TSPO Degradation.

Laudette M et al.

Circulation Research, 2025

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

Bao X et al.

Signal Transduction and Targeted Therapy, 2024

Targeting PCSK9 to tackle cardiovascular disease.

Hummelgaard S et al.

Pharmacology & Therapeutics, 2023

Healthy lifestyle? or just the right genetic mutations.

Butera A et al.

Cell Cycle (georgetown, Tex.), 2023

Low cholesterol states: clinical implications and management.

Gill PK et al.

Expert Review of Endocrinology & Metabolism, 2023

PCSK9 facilitates melanoma pathogenesis via a network regulating tumor immunity.

Gu Y et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2023

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

Alannan M et al.

Cells, 2022

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

Tchéoubi SER et al.

Journal of Drug Targeting, 2022

Expanding Biology of PCSK9: Roles in Atherosclerosis and Beyond.

Seidah NG et al.

Current Atherosclerosis Reports, 2022

Inhibitory Antibodies against PCSK9 Reduce Surface CD36 and Mitigate Diet-Induced Renal Lipotoxicity.

Byun JH et al.

Kidney360, 2022

The biological relevance of PCSK9: when less is better….

Mbikay M et al.

Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2022

The Multifaceted Biology of PCSK9.

Seidah NG et al.

Endocrine Reviews, 2022

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

Lebeau PF et al.

Metabolites, 2022

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

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

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

The loss-of-function PCSK9Q152H variant increases ER chaperones GRP78 and GRP94 and protects against liver injury.

Lebeau PF et al.

The Journal of Clinical Investigation, 2021

Serum PCSK9 Correlates with PTX3 and Apolipoproteins B, A1, and C3 Concentrations in Patients with Type 2 Diabetes.

Waluś-Miarka M et al.

Cardiovascular Therapeutics, 2021

PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Guo Q et al.

Frontiers in Genetics, 2020

Pcsk9 knockout exacerbates diet-induced non-alcoholic steatohepatitis, fibrosis and liver injury in mice.

Lebeau PF et al.

Jhep Reports : Innovation in Hepatology, 2019

The Arg499His gain-of-function mutation in the C-terminal domain of PCSK9.

Sánchez-Hernández RM et al.

Atherosclerosis, 2019

Novel strategies to target proprotein convertase subtilisin kexin 9: beyond monoclonal antibodies.

Seidah NG et al.

Cardiovascular Research, 2019

Associations Between Soluble LDLR and Lipoproteins in a White Cohort and the Effect of PCSK9 Loss-of-Function.

Mayne J et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

Proprotein convertase subtilisin/kexin type 9 inhibits interferon β expression through interacting with ATF-2.

Li Z et al.

Febs Letters, 2018

Loss-of-function PCSK9 mutants evade the unfolded protein response sensor GRP78 and fail to induce endoplasmic reticulum stress when retained.

Lebeau P et al.

The Journal of Biological Chemistry, 2018

The ever-expanding saga of the proprotein convertases and their roles in body homeostasis: emphasis on novel proprotein convertase subtilisin kexin number 9 functions and regulation.

Seidah NG et al.

Current Opinion in Lipidology, 2018

Proprotein Convertase Subtilisin-Kexin type-9 (PCSK9) and triglyceride-rich lipoprotein metabolism: Facts and gaps.

Baragetti A et al.

Pharmacological 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

The Effect of PCSK9 Loss-of-Function Variants on the Postprandial Lipid and ApoB-Lipoprotein Response.

Ooi TC et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

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

Dron JS et al.

Current Opinion in Lipidology, 2017

Lowering serum lipids via PCSK9-targeting drugs: current advances and future perspectives.

He NY et al.

Acta Pharmacologica Sinica, 2017

PCSK9 as a therapeutic target for cardiovascular disease.

Zhang PY

Experimental and Therapeutic Medicine, 2017

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

Seidah NG et al.

Pharmacological Reviews, 2017

Point mutations at the catalytic site of PCSK9 inhibit folding, autoprocessing, and interaction with the LDL receptor.

Garvie CW et al.

Protein Science : a Publication of the Protein Society, 2016

60 YEARS OF POMC: From the prohormone theory to pro-opiomelanocortin and to proprotein convertases (PCSK1 to PCSK9).

Chrétien M et al.

Journal of Molecular Endocrinology, 2016

Trafficking Dynamics of PCSK9-Induced LDLR Degradation: Focus on Human PCSK9 Mutations and C-Terminal Domain.

Poirier S et al.

Plos One, 2016

Protective alleles and modifier variants in human health and disease.

Harper AR et al.

Nature Reviews. Genetics, 2015

Proprotein convertase subtilisin/kexin type 9 inhibition: a new therapeutic mechanism for reducing cardiovascular disease risk.

Bergeron N et al.

Circulation, 2015

β-Estradiol results in a proprotein convertase subtilisin/kexin type 9-dependent increase in low-density lipoprotein receptor levels in human hepatic HuH7 cells.

Starr AE et al.

The Febs Journal, 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

The proprotein convertase subtilisin/kexin type 9 (PCSK9) active site and cleavage sequence differentially regulate protein secretion from proteolysis.

Chorba JS et al.

The Journal of Biological Chemistry, 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

PCSK9 gene mutations and low-density lipoprotein cholesterol.

Wu NQ et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014

PCSK9: a key modulator of cardiovascular health.

Seidah NG et al.

Circulation Research, 2014

Assessing the functional consequence of loss of function variants using electronic medical record and large-scale genomics consortium efforts.

Sleiman P et al.

Frontiers in Genetics, 2014

The genetic spectrum of familial hypercholesterolemia in Pakistan.

Ahmed W et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013

Differential effects of PCSK9 loss of function variants on serum lipid and PCSK9 levels in Caucasian and African Canadian populations.

Mayne J et al.

Lipids in Health and Disease, 2013

Evaluation of proprotein convertase subtilisin/kexin type 9: focus on potential clinical and therapeutic implications for low-density lipoprotein cholesterol lowering.

Lose JM et al.

Pharmacotherapy, 2013

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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."