Publications:

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Fragment-based design of small molecule PCSK9 inhibitors using simulated annealing of chemical potential simulations.

Plos One

F Guarnieri, JL Kulp, JL Kulp, IS Cloudsdale

Publication Date: 2019

Variant appearance in text: PCSK9: R218S

PMID: 31805108

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Case-control study on PCSK9 R496W (rs374603772) and D374Y (rs137852912) mutations in Turkish patients with primary dyslipidemia.

Anatolian Journal Of Cardiology

Z Eroğlu, A Tetik Vardarlı, Z Düzgün, C Gündüz, V Bozok Çetintaş, M Kayıkçıoğlu

Publication Date: 2018-05

Variant appearance in text: PCSK9: R218S

PMID: 29724976

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The PCSK9 revolution and the potential of PCSK9-based therapies to reduce LDL-cholesterol.

Global Cardiology Science & Practice

NG Seidah

Publication Date: 2017-03-31

Variant appearance in text: PCSK9: R218S

PMID: 28971102

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PCSK9 as a therapeutic target for cardiovascular disease.

Experimental And Therapeutic Medicine

PY Zhang

Publication Date: 2017-03

Variant appearance in text: PCSK9: R218S

PMID: 28450903

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Physiological and therapeutic regulation of PCSK9 activity in cardiovascular disease.

Basic Research In Cardiology

S Glerup, R Schulz, U Laufs, KD Schlüter

Publication Date: 2017-05

Variant appearance in text: PCSK9: R218S

PMID: 28439730

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Studies of the autoinhibitory segment comprising residues 31-60 of the prodomain of PCSK9: Possible implications for the mechanism underlying gain-of-function mutations.

Molecular Genetics And Metabolism Reports

L Wierød, J Cameron, TB Strøm, TP Leren

Publication Date: 2016-12

Variant appearance in text: PCSK9: R218S

PMID: 27896130

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An Unbiased Mass Spectrometry Approach Identifies Glypican-3 as an Interactor of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) and Low Density Lipoprotein Receptor (LDLR) in Hepatocellular Carcinoma Cells.

The Journal Of Biological Chemistry

K Ly, R Essalmani, R Desjardins, NG Seidah, R Day

Publication Date: 2016-11-18

Variant appearance in text: PCSK9: R218S

PMID: 27758865

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Proteolytic cleavage of antigen extends the durability of an anti-PCSK9 monoclonal antibody.

Journal Of Lipid Research

KM Schroeder, TP Beyer, RJ Hansen, B Han, RT Pickard, VJ Wroblewski, MC Kowala, PI Eacho

Publication Date: 2015-11

Variant appearance in text: PCSK9: R218S

PMID: 26392590

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Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.

Circulation. Cardiovascular Genetics

PN Hopkins, J Defesche, SW Fouchier, E Bruckert, G Luc, B Cariou, B Sjouke, TP Leren, M Harada-Shiba, H Mabuchi, JP Rabès, A Carrié, C van Heyningen, V Carreau, M Farnier, YP Teoh, M Bourbon, MA Kawashiri, A Nohara, H Soran, AD Marais, H Tada, M Abifadel, C Boileau, B Chanu, S Katsuda, I Kishimoto, G Lambert, H Makino, Y Miyamoto, M Pichelin, K Yagi, M Yamagishi, Y Zair, S Mellis, GD Yancopoulos, N Stahl, J Mendoza, Y Du, S Hamon, M Krempf, GD Swergold

Publication Date: 2015-12

Variant appearance in text: PCSK9: Arg218Ser

PMID: 26374825

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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

QT Le, M Blanchet, NG Seidah, P Labonté

Publication Date: 2015-09-18

Variant appearance in text: PCSK9: R218S

PMID: 26195630

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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

K Ly, YG Saavedra, M Canuel, S Routhier, R Desjardins, J Hamelin, J Mayne, C Lazure, NG Seidah, R Day

Publication Date: 2014-06-20

Variant appearance in text: PCSK9: R218S

PMID: 24808179

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Isolation and characterization of the circulating truncated form of PCSK9.

Journal Of Lipid Research

B Han, PI Eacho, MD Knierman, JS Troutt, RJ Konrad, X Yu, KM Schroeder

Publication Date: 2014-07

Variant appearance in text: PCSK9: R218S

PMID: 24776539

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The roles of genetic polymorphisms and human immunodeficiency virus infection in lipid metabolism.

Biomed Research International

ER de Almeida, EM Reiche, AP Kallaur, T Flauzino, MA Watanabe

Publication Date: 2013

Variant appearance in text: PCSK9: Arg218Ser

PMID: 24319689

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The biology of PCSK9 from the endoplasmic reticulum to lysosomes: new and emerging therapeutics to control low-density lipoprotein cholesterol.

Drug Design, Development And Therapy

S Poirier, G Mayer

Publication Date: 2013

Variant appearance in text: PCSK9: R218S

PMID: 24115837

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Furin-cleaved proprotein convertase subtilisin/kexin type 9 (PCSK9) is active and modulates low density lipoprotein receptor and serum cholesterol levels.

The Journal Of Biological Chemistry

MT Lipari, W Li, P Moran, M Kong-Beltran, T Sai, J Lai, SJ Lin, G Kolumam, J Zavala-Solorio, A Izrael-Tomasevic, D Arnott, J Wang, AS Peterson, D Kirchhofer

Publication Date: 2012-12-21

Variant appearance in text: PCSK9: R218S

PMID: 23135270

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The PCSK9 decade.

Journal Of Lipid Research

G Lambert, B Sjouke, B Choque, JJ Kastelein, GK Hovingh

Publication Date: 2012-12

Variant appearance in text: PCSK9: R218S

PMID: 22811413

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In vivo evidence that furin from hepatocytes inactivates PCSK9.

The Journal Of Biological Chemistry

R Essalmani, D Susan-Resiga, A Chamberland, M Abifadel, JW Creemers, C Boileau, NG Seidah, A Prat

Publication Date: 2011-02-11

Variant appearance in text: PCSK9: R218S

PMID: 21147780

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Effects of the prosegment and pH on the activity of PCSK9: evidence for additional processing events.

The Journal Of Biological Chemistry

S Benjannet, YG Saavedra, J Hamelin, MC Asselin, R Essalmani, A Pasquato, P Lemaire, G Duke, B Miao, F Duclos, R Parker, G Mayer, NG Seidah

Publication Date: 2010-12-24

Variant appearance in text: PCSK9: R218S

PMID: 20937814

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Self-association of human PCSK9 correlates with its LDLR-degrading activity.

Biochemistry

D Fan, PG Yancey, S Qiu, L Ding, EJ Weeber, MF Linton, S Fazio

Publication Date: 2008-02-12

Variant appearance in text: PCSK9: R218S

PMID: 18197702

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Alternative transcript annotations:

Transcript	cDNA	Protein	Consequence	Exon	Intron
ENST00000302118.5	c.654A>C	p.Arg218Ser	missense_variant	4/12	-
ENST00000452118.2	c.*298A>C	-	3_prime_UTR_variant	5/6	-
ENST00000490692.1	n.1475A>C	-	non_coding_transcript_exon_variant	1/8	-
ENST00000543384.1	c.54A>C	p.Arg18Ser	missense_variant	2/10	-
NM_174936.4	c.654A>C	p.Arg218Ser	missense_variant	4/12	-
NR_110451.1	n.313A>C	-	non_coding_transcript_exon_variant	2/10	-