Variant ID: 1-55524201-T-C

NM_174936.3(PCSK9):c.1384T>C;(p.S462P)

This variant was identified in 14 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: S462P
PubMed Link: 35323658
Variant Present in the following documents:
  • metabolites-12-00215.pdf
View BVdb publication page



PCSK9 as a Target for Development of a New Generation of Hypolipidemic Drugs.

Molecules (Basel, Switzerland)
Kuzmich, Nikolay N; Andresyuk, Elena E; Porozov, Yuri Y; Tarasov, Vadim V; Samsonov, Mikhail M; Preferanskaya, Nina N; Veselov, Valery V; Alyautdin, Renad R
Publication Date: 2022-01-10

Variant appearance in text: PCSK9: S462P
PubMed Link: 35056760
Variant Present in the following documents:
  • molecules-27-00434.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: S462P
PubMed Link: 34782856
Variant Present in the following documents:
  • Main text
  • fcvm-08-764038.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: 1384T>C; Ser462Pro; rs746115963
PubMed Link: 34341098
Variant Present in the following documents:
  • Main text
  • openhrt-2021-001710supp001.xlsx
  • openhrt-2021-001710.pdf
View BVdb publication page



Construction of point mutation rabbits using CRISPR/Cas9.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal Of Zhejiang University. Medical Sciences
Yan, Kunning K; Zhang, Ting T; Zha, Yiwen Y; Liang, Jingyan J; Cheng, Yong Y
Publication Date: 2021-04-25

Variant appearance in text: PCSK9: S462P
PubMed Link: 34137224
Variant Present in the following documents:
  • Main text
View BVdb publication page



PCSK9 Biology and Its Role in Atherothrombosis.

International Journal Of Molecular Sciences
Barale, Cristina C; Melchionda, Elena E; Morotti, Alessandro A; Russo, Isabella I
Publication Date: 2021-05-30

Variant appearance in text: PCSK9: S462P
PubMed Link: 34070931
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: S462P
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
  • fgene-11-01020.pdf
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: S462P
PubMed Link: 29748367
Variant Present in the following documents:
  • Main text
View BVdb publication page



Development of vaccine for dyslipidemia targeted to a proprotein convertase subtilisin/kexin type 9 (PCSK9) epitope in mice.

Plos One
Kawakami, Ryo R; Nozato, Yoichi Y; Nakagami, Hironori H; Ikeda, Yuka Y; Shimamura, Munehisa M; Yoshida, Shota S; Sun, Jiao J; Kawano, Tomohiro T; Takami, Yoichi Y; Noma, Takahisa T; Rakugi, Hiromi H; Minamino, Tetsuo T; Morishita, Ryuichi R
Publication Date: 2018

Variant appearance in text: PCSK9: S462P
PubMed Link: 29438441
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: S462P
PubMed Link: 29259136
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: S462P
PubMed Link: 26195630
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular and cellular function of the proprotein convertase subtilisin/kexin type 9 (PCSK9).

Basic Research In Cardiology
Schulz, Rainer R; Schlüter, Klaus-Dieter KD; Laufs, Ulrich U
Publication Date: 2015-03

Variant appearance in text: PCSK9: S462P
PubMed Link: 25600226
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: S462P
PubMed Link: 23105118
Variant Present in the following documents:
  • Main text
View BVdb publication page



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.

The Journal Of Biological Chemistry
Ni, Yan G YG; Condra, Jon H JH; Orsatti, Laura L; Shen, Xun X; Di Marco, Stefania S; Pandit, Shilpa S; Bottomley, Matthew J MJ; Ruggeri, Lionello L; Cummings, Richard T RT; Cubbon, Rose M RM; Santoro, Joseph C JC; Ehrhardt, Anka A; Lewis, Dale D; Fisher, Timothy S TS; Ha, Sookhee S; Njimoluh, Leila L; Wood, Dana D DD; Hammond, Holly A HA; Wisniewski, Douglas D; Volpari, Cinzia C; Noto, Alessia A; Lo Surdo, Paola P; Hubbard, Brian B; Carfí, Andrea A; Sitlani, Ayesha A
Publication Date: 2010-04-23

Variant appearance in text: PCSK9: S462P
PubMed Link: 20172854
Variant Present in the following documents:
  • Main text
View BVdb publication page