Variant ID: 1-55523828-C-T

NM_174936.3(PCSK9):c.1300C>T;(p.R434W)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


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

Metabolites
Lebeau, Paul F PF; Platko, Khrystyna K; Byun, Jae Hyun JH; Makda, Yumna Y; Austin, Richard C RC
Publication Date: 2022-02-26

Variant appearance in text: PCSK9: R434W
PubMed Link: 35323658
Variant Present in the following documents:
  • metabolites-12-00215.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: R434W
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: 1300C>T; Arg434Trp; rs757143429
PubMed Link: 34341098
Variant Present in the following documents:
  • Main text
  • openhrt-2021-001710supp001.xlsx
  • openhrt-2021-001710.pdf
View BVdb publication page



Development of a novel, fully human, anti-PCSK9 antibody with potent hypolipidemic activity by utilizing phage display-based strategy.

Ebiomedicine
Xu, Menglong M; Lei, Gaoxin G; Chen, Manman M; Wang, Ke K; Lv, Wenxiu W; Zhang, Panpan P; Hu, Tuo T; Gao, Jie J; Lu, Chenchen C; Mei, Ying Y; Xu, Zhipan Z; Bai, Zhengli Z; Hu, Huajing H; Jiang, Yiwei Y; Tan, Shuhua S
Publication Date: 2021-03

Variant appearance in text: PCSK9: R434W
PubMed Link: 33647772
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Pathway Mutations in Breast Cancer Using Whole-Exome Sequencing.

Oncology Research
Chang, Ya-Sian YS; Chang, Chieh-Min CM; Lin, Chien-Yu CY; Chao, Dy-San DS; Huang, Hsi-Yuan HY; Chang, Jan-Gowth JG
Publication Date: 2020-03-27

Variant appearance in text: PCSK9: R434W; rs757143429
PubMed Link: 31575382
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: R434W
PubMed Link: 27280970
Variant Present in the following documents:
  • Main text
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: R434W
PubMed Link: 26195630
Variant Present in the following documents:
  • Main text
View BVdb publication page



Correlation of PCSK9 gene polymorphism with cerebral ischemic stroke in Xinjiang Han and Uygur populations.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Han, Dengfeng D; Ma, Jianhua J; Zhang, Xiaoning X; Cai, Jian J; Li, Jinlan J; Tuerxun, Tuerhong T; Hao, Chenguang C; Du, Lei L; Lei, Jing J
Publication Date: 2014-09-30

Variant appearance in text: PCSK9: R434W
PubMed Link: 25266949
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

The Journal Of Biological Chemistry
Ly, Kévin K; Saavedra, Yascara Grisel Luna YG; Canuel, Maryssa M; Routhier, Sophie S; Desjardins, Roxane R; Hamelin, Josée J; Mayne, Janice J; Lazure, Claude C; Seidah, Nabil G NG; Day, Robert R
Publication Date: 2014-06-20

Variant appearance in text: PCSK9: R434W
PubMed Link: 24808179
Variant Present in the following documents:
  • Main text
View BVdb publication page



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.

The Journal Of Biological Chemistry
Saavedra, Yascara Grisel Luna YG; Day, Robert R; Seidah, Nabil G NG
Publication Date: 2012-12-21

Variant appearance in text: PCSK9: R434W
PubMed Link: 23105118
Variant Present in the following documents:
  • Main text
View BVdb publication page



PCSK9 reduces the protein levels of the LDL receptor in mouse brain during development and after ischemic stroke.

Journal Of Lipid Research
Rousselet, Estelle E; Marcinkiewicz, Jadwiga J; Kriz, Jasna J; Zhou, Ann A; Hatten, Mary E ME; Prat, Annik A; Seidah, Nabil G NG
Publication Date: 2011-07

Variant appearance in text: PCSK9: R434W
PubMed Link: 21518694
Variant Present in the following documents:
  • Main text
View BVdb publication page



Statins and ezetimibe modulate plasma proprotein convertase subtilisin kexin-9 (PCSK9) levels.

Transactions Of The American Clinical And Climatological Association
Davignon, Jean J; Dubuc, Geneviève G
Publication Date: 2009

Variant appearance in text: PCSK9: R434W
PubMed Link: 19768174
Variant Present in the following documents:
  • Main text
View BVdb publication page



A new method for measurement of total plasma PCSK9: clinical applications.

Journal Of Lipid Research
Dubuc, Geneviève G; Tremblay, Michel M; Paré, Guillaume G; Jacques, Hélène H; Hamelin, Josée J; Benjannet, Suzanne S; Boulet, Lucie L; Genest, Jacques J; Bernier, Lise L; Seidah, Nabil G NG; Davignon, Jean J
Publication Date: 2010-01

Variant appearance in text: PCSK9: R434W
PubMed Link: 19571328
Variant Present in the following documents:
  • Main text
View BVdb publication page