Publications:

---

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

Cells

Alannan, Malak M; Seidah, Nabil G NG; Merched, Aksam J AJ

Publication Date: 2022-12-19

Variant appearance in text: PCSK9: D129G

PubMed Link: 36552895

Variant Present in the following documents:

• Main text
• cells-11-04132.pdf

View BVdb publication page

---

Pathogenic gain-of-function mutations in the prodomain and C-terminal domain of PCSK9 inhibit LDL binding.

Frontiers In Physiology

Sarkar, Samantha K SK; Matyas, Angela A; Asikhia, Ikhuosho I; Hu, Zhenkun Z; Golder, Mia M; Beehler, Kaitlyn K; Kosenko, Tanja T; Lagace, Thomas A TA

Publication Date: 2022

Variant appearance in text: PCSK9: D129G

PubMed Link: 36187800

Variant Present in the following documents:

• Main text
• fphys-13-960272.pdf

View BVdb publication page

---

Insight into the Evolving Role of PCSK9.

Metabolites

Maligłówka, Mateusz M; Kosowski, Michał M; Hachuła, Marcin M; Cyrnek, Marcin M; Bułdak, Łukasz Ł; Basiak, Marcin M; Bołdys, Aleksandra A; Machnik, Grzegorz G; Bułdak, Rafał Jakub RJ; Okopień, Bogusław B

Publication Date: 2022-03-17

Variant appearance in text: PCSK9: D129G

PubMed Link: 35323699

Variant Present in the following documents:

• metabolites-12-00256.pdf

View BVdb publication page

---

Regulation of PCSK9 Expression and Function: Mechanisms and Therapeutic Implications.

Frontiers In Cardiovascular Medicine

Xia, Xiao-Dan XD; Peng, Zhong-Sheng ZS; Gu, Hong-Mei HM; Wang, Maggie M; Wang, Gui-Qing GQ; Zhang, Da-Wei DW

Publication Date: 2021

Variant appearance in text: PCSK9: D129G

PubMed Link: 34782856

Variant Present in the following documents:

• Main text
• fcvm-08-764038.pdf

View BVdb publication page

---

PCSK9 Gene Participates in the Development of Primary Dyslipidemias.

Balkan Journal Of Medical Genetics : Bjmg

Matías-Pérez, D D; Pérez-Santiago, A D AD; Sánchez Medina, M A MA; Alpuche Osorno, J J JJ; García-Montalvo, I A IA

Publication Date: 2021-06

Variant appearance in text: PCSK9: D129G

PubMed Link: 34447653

Variant Present in the following documents:

• Main text
• bjmg-24-005.pdf

View BVdb publication page

---

PCSK9: A Multi-Faceted Protein That Is Involved in Cardiovascular Biology.

Biomedicines

Sundararaman, Sai Sahana SS; Döring, Yvonne Y; van der Vorst, Emiel P C EPC

Publication Date: 2021-07-08

Variant appearance in text: PCSK9: D129G

PubMed Link: 34356856

Variant Present in the following documents:

• Main text
• biomedicines-09-00793.pdf

View BVdb publication page

---

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

Open Heart

Lacaze, Paul P; Riaz, Moeen M; Sebra, Robert R; Hooper, Amanda J AJ; Pang, Jing J; Tiller, Jane J; Polekhina, Galina G; Tonkin, Andrew A; Reid, Chris C; Zoungas, Sophia S; Murray, Anne M AM; Nicholls, Stephen S; Watts, Gerald G; Schadt, Eric E; McNeil, John J JJ

Publication Date: 2021-07

Variant appearance in text: PCSK9: 386A>G; Asp129Gly; rs1553135971

PubMed Link: 34341098

Variant Present in the following documents:

• openhrt-2021-001710supp001.xlsx, sheet 1

View BVdb publication page

---

PCSK9 Gene E670G Polymorphism and Coronary Artery Disease: An Updated Meta-Analysis of 5,484 Subjects.

Frontiers In Cardiovascular Medicine

Li, Yan-Yan YY; Wang, Hui H; Yang, Xin-Xing XX; Geng, Hong-Yu HY; Gong, Ge G; Lu, Xin-Zheng XZ

Publication Date: 2020

Variant appearance in text: PCSK9: D129G

PubMed Link: 33244470

Variant Present in the following documents:

• Main text

View BVdb publication page

---

PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers In Genetics

Guo, Qianyun Q; Feng, Xunxun X; Zhou, Yujie Y

Publication Date: 2020

Variant appearance in text: PCSK9: D129G

PubMed Link: 33173529

Variant Present in the following documents:

• Main text
• fgene-11-01020.pdf

View BVdb publication page

---

Cell-associated heparin-like molecules modulate the ability of LDL to regulate PCSK9 uptake.

Journal Of Lipid Research

Galvan, Adri M AM; Chorba, John S JS

Publication Date: 2019-01

Variant appearance in text: PCSK9: D129G

PubMed Link: 30463987

Variant Present in the following documents:

• Main text

View BVdb publication page

---

PCSK9: From Basic Science Discoveries to Clinical Trials.

Circulation Research

Shapiro, Michael D MD; Tavori, Hagai H; Fazio, Sergio S

Publication Date: 2018-05-11

Variant appearance in text: PCSK9: D129G

PubMed Link: 29748367

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Stepwise processing analyses of the single-turnover PCSK9 protease reveal its substrate sequence specificity and link clinical genotype to lipid phenotype.

The Journal Of Biological Chemistry

Chorba, John S JS; Galvan, Adri M AM; Shokat, Kevan M KM

Publication Date: 2018-02-09

Variant appearance in text: PCSK9: D129G

PubMed Link: 29259136

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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

Plos One

Poirier, Steve S; Hamouda, Hocine Ait HA; Villeneuve, Louis L; Demers, Annie A; Mayer, Gaétan G

Publication Date: 2016

Variant appearance in text: PCSK9: D129G

PubMed Link: 27280970

Variant Present in the following documents:

• Main text
• pone.0157230.pdf

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: HCHOLA3: D129G

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: PCSK9: D129G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

---

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.

The Journal Of Biological Chemistry

Le, Quoc-Tuan QT; Blanchet, Matthieu M; Seidah, Nabil G NG; Labonté, Patrick P

Publication Date: 2015-09-18

Variant appearance in text: PCSK9: D129G

PubMed Link: 26195630

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research

Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC

Publication Date: 2011-11

Variant appearance in text: PCSK9: D129G

PubMed Link: 21862702

Variant Present in the following documents:

• Main text

View BVdb publication page

---

PCSK9 is required for the disposal of non-acetylated intermediates of the nascent membrane protein BACE1.

Embo Reports

Jonas, Mary Cabell MC; Costantini, Claudio C; Puglielli, Luigi L

Publication Date: 2008-09

Variant appearance in text: PCSK9: D129G

PubMed Link: 18660751

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Common and rare gene variants affecting plasma LDL cholesterol.

The Clinical Biochemist. Reviews

Burnett, John R JR; Hooper, Amanda J AJ

Publication Date: 2008-02

Variant appearance in text: PCSK9: D129G

PubMed Link: 18566665

Variant Present in the following documents:

• Main text

View BVdb publication page

---