Variant ID: 1-55509689-T-A

NM_174936.3(PCSK9):c.381T>A;(p.Ser127Arg)

This variant was identified in 57 publications




Publications:


In Silico Insights into Protein-protein Interaction Disruptive Mutations in the PCSK9-LDLR complex.

International Journal Of Molecular Sciences
WR Martin, FC Lightstone, F Cheng
Publication Date: 2020-02-25

Variant appearance in text: N/A
PMID: 32106405
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Novel strategies to target proprotein convertase subtilisin kexin 9: beyond monoclonal antibodies.

Cardiovascular Research
NG Seidah, A Prat, A Pirillo, AL Catapano, GD Norata
Publication Date: 2019-03-01

Variant appearance in text: N/A
PMID: 30629143
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Identifying the anti-inflammatory response to lipid lowering therapy: a position paper from the working group on atherosclerosis and vascular biology of the European Society of Cardiology.

Cardiovascular Research
J Tuñón, L Badimón, ML Bochaton-Piallat, B Cariou, MJ Daemen, J Egido, PC Evans, IE Hoefer, DFJ Ketelhuth, E Lutgens, CM Matter, C Monaco, S Steffens, E Stroes, C Vindis, C Weber, M Bäck
Publication Date: 2019-01-01

Variant appearance in text: N/A
PMID: 30534957
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Cell-associated heparin-like molecules modulate the ability of LDL to regulate PCSK9 uptake.

Journal Of Lipid Research
AM Galvan, JS Chorba
Publication Date: 2019-01

Variant appearance in text: N/A
PMID: 30463987
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The Emerging Role of PCSK9 Inhibitors in Preventive Cardiology.

European Cardiology
RN Pitts, RH Eckel
Publication Date: 2014-12

Variant appearance in text: N/A
PMID: 30310488
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PCSK9: From Basic Science Discoveries to Clinical Trials.

Circulation Research
MD Shapiro, H Tavori, S Fazio
Publication Date: 2018-05-11

Variant appearance in text: N/A
PMID: 29748367
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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: S127R; rs28942111
PMID: 29724976
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Loss-of-function PCSK9 mutants evade the unfolded protein response sensor GRP78 and fail to induce endoplasmic reticulum stress when retained.

The Journal Of Biological Chemistry
P Lebeau, K Platko, AA Al-Hashimi, JH Byun, Š Lhoták, N Holzapfel, G Gyulay, SA Igdoura, DR Cool, B Trigatti, NG Seidah, RC Austin
Publication Date: 2018-05-11

Variant appearance in text: N/A
PMID: 29593095
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New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.

Scientific Reports
S Elbitar, D Susan-Resiga, Y Ghaleb, P El Khoury, G Peloso, N Stitziel, JP Rabès, V Carreau, J Hamelin, A Ben-Djoudi-Ouadda, E Bruckert, C Boileau, NG Seidah, M Varret, M Abifadel
Publication Date: 2018-01-31

Variant appearance in text: N/A
PMID: 29386597
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Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?

European Journal Of Human Genetics : Ejhg
Y Ghaleb, S Elbitar, P El Khoury, E Bruckert, V Carreau, A Carrié, P Moulin, M Di-Filippo, S Charriere, H Iliozer, M Farnier, G Luc, JP Rabès, C Boileau, M Abifadel, M Varret
Publication Date: 2018-04

Variant appearance in text: PCSK9: 381T>A; Ser127Arg; rs28942111
PMID: 29374275
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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
JS Chorba, AM Galvan, KM Shokat
Publication Date: 2018-02-09

Variant appearance in text: PCSK9: S127R
PMID: 29259136
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Urine-Derived Stem Cells: The Present and the Future.

Stem Cells International
X Ji, M Wang, F Chen, J Zhou
Publication Date: 2017

Variant appearance in text: N/A
PMID: 29250119
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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: N/A
PMID: 28971102
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PCSK 9 gain-of-function mutations (R496W and D374Y) and clinical cardiovascular characteristics in a cohort of Turkish patients with familial hypercholesterolemia.

Anatolian Journal Of Cardiology
E Kaya, M Kayıkçıoğlu, A Tetik Vardarlı, Z Eroğlu, S Payzın, L Can
Publication Date: 2017-10

Variant appearance in text: PCSK9: S127R; rs28942111
PMID: 28777095
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APP, APLP2 and LRP1 interact with PCSK9 but are not required for PCSK9-mediated degradation of the LDLR in vivo.

Biochimica Et Biophysica Acta. Molecular And Cell Biology Of Lipids
T Fu, Y Guan, J Xu, Y Wang
Publication Date: 2017-09

Variant appearance in text: N/A
PMID: 28495363
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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: N/A
PMID: 28439730
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PCSK9 and Atherosclerosis - Lipids and Beyond.

Journal Of Atherosclerosis And Thrombosis
MD Shapiro, S Fazio
Publication Date: 2017-05-01

Variant appearance in text: N/A
PMID: 28302950
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The Relationship Between Coronary Artery Disease and Genetic Polymorphisms of Melanoma Inhibitory Activity 3.

Iranian Red Crescent Medical Journal
H Zaimkohan, M Keramatipour, SR Mirhafez, J Tavakkoly-Bazzaz, A Tahooni, M Piryaei, M Ghayour-Mobarhan, SM Ghaderian
Publication Date: 2016-09

Variant appearance in text: N/A
PMID: 28180021
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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: N/A
PMID: 27896130
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Biology of proprotein convertase subtilisin kexin 9: beyond low-density lipoprotein cholesterol lowering.

Cardiovascular Research
GD Norata, H Tavori, A Pirillo, S Fazio, AL Catapano
Publication Date: 2016-10

Variant appearance in text: N/A
PMID: 27496869
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Trafficking Dynamics of PCSK9-Induced LDLR Degradation: Focus on Human PCSK9 Mutations and C-Terminal Domain.

Plos One
S Poirier, HA Hamouda, L Villeneuve, A Demers, G Mayer
Publication Date: 2016

Variant appearance in text: N/A
PMID: 27280970
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The impact of genome-wide association studies on the pathophysiology and therapy of cardiovascular disease.

Embo Molecular Medicine
T Kessler, B Vilne, H Schunkert
Publication Date: 2016-07

Variant appearance in text: N/A
PMID: 27189168
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Human PCSK9 promotes hepatic lipogenesis and atherosclerosis development via apoE- and LDLR-mediated mechanisms.

Cardiovascular Research
H Tavori, I Giunzioni, IM Predazzi, D Plubell, A Shivinsky, J Miles, RM Devay, H Liang, S Rashid, MF Linton, S Fazio
Publication Date: 2016-05-15

Variant appearance in text: N/A
PMID: 26980204
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Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.

Journal Of Lipid Research
R Wintjens, D Bozon, K Belabbas, F MBou, JP Girardet, P Tounian, M Jolly, F Boccara, A Cohen, A Karsenty, B Dubern, JC Carel, A Azar-Kolakez, F Feillet, F Labarthe, AM Gorsky, A Horovitz, C Tamarindi, P Kieffer, A Lienhardt, O Lascols, M Di Filippo, F Dufernez
Publication Date: 2016-03

Variant appearance in text: N/A
PMID: 26802169
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Urine-sample-derived human induced pluripotent stem cells as a model to study PCSK9-mediated autosomal dominant hypercholesterolemia.

Disease Models & Mechanisms
K Si-Tayeb, S Idriss, B Champon, A Caillaud, M Pichelin, L Arnaud, P Lemarchand, C Le May, K Zibara, B Cariou
Publication Date: 2016-01

Variant appearance in text: N/A
PMID: 26586530
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PCSK9 and triglyceride-rich lipoprotein metabolism.

Journal Of Biomedical Research
I Druce, H Abujrad, TC Ooi
Publication Date: 2015-07-20

Variant appearance in text: N/A
PMID: 26320603
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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: S127R
PMID: 26195630
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Exome sequencing in suspected monogenic dyslipidemias.

Circulation. Cardiovascular Genetics
NO Stitziel, GM Peloso, M Abifadel, AB Cefalu, S Fouchier, MM Motazacker, H Tada, DB Larach, Z Awan, JF Haller, CR Pullinger, M Varret, JP Rabès, D Noto, P Tarugi, MA Kawashiri, A Nohara, M Yamagishi, M Risman, R Deo, I Ruel, J Shendure, DA Nickerson, JG Wilson, SS Rich, N Gupta, DN Farlow, BM Neale, MJ Daly, JP Kane, MW Freeman, J Genest, DJ Rader, H Mabuchi, JJ Kastelein, GK Hovingh, MR Averna, S Gabriel, C Boileau, S Kathiresan
Publication Date: 2015-04

Variant appearance in text: N/A
PMID: 25632026
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Molecular and cellular function of the proprotein convertase subtilisin/kexin type 9 (PCSK9).

Basic Research In Cardiology
R Schulz, KD Schlüter, U Laufs
Publication Date: 2015-03

Variant appearance in text: N/A
PMID: 25600226
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On the function and homeostasis of PCSK9: reciprocal interaction with LDLR and additional lipid effects.

Atherosclerosis
H Tavori, S Rashid, S Fazio
Publication Date: 2015-02

Variant appearance in text: N/A
PMID: 25544176
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Cholesterol: the good, the bad, and the ugly - therapeutic targets for the treatment of dyslipidemia.

Medical Principles And Practice : International Journal Of The Kuwait University, Health Science Centre
NA Elshourbagy, HV Meyers, SS Abdel-Meguid
Publication Date: 2014

Variant appearance in text: N/A
PMID: 24334831
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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: N/A
PMID: 24319689
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Proprotein convertase subtilisin/kexin type 9: from the discovery to the development of new therapies for cardiovascular diseases.

Scientifica
N Ferri
Publication Date: 2012

Variant appearance in text: N/A
PMID: 24278757
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Autosomal dominant hypercholesterolemia: needs for early diagnosis and cascade screening in the tunisian population.

Current Genomics
A Jelassi, M Najah, A Slimani, I Jguirim, MN Slimane, M Varret
Publication Date: 2013-03

Variant appearance in text: N/A
PMID: 23997648
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The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations.

The Application Of Clinical Genetics
I De Castro-Orós, M Pocoví, F Civeira
Publication Date: 2010

Variant appearance in text: N/A
PMID: 23776352
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More on cholesterol trafficking in the body!

Oman Medical Journal
K Al-Musalhi, DR Nair
Publication Date: 2013-03

Variant appearance in text: N/A
PMID: 23599873
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Plasma PCSK9 concentrations during an oral fat load and after short term high-fat, high-fat high-protein and high-fructose diets.

Nutrition & Metabolism
B Cariou, C Langhi, M Le Bras, M Bortolotti, KA Lê, F Theytaz, C Le May, B Guyomarc'h-Delasalle, Y Zaïr, R Kreis, C Boesch, M Krempf, L Tappy, P Costet
Publication Date: 2013-01-08

Variant appearance in text: N/A
PMID: 23298392
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c-IAP1 binds and processes PCSK9 protein: linking the c-IAP1 in a TNF-α pathway to PCSK9-mediated LDLR degradation pathway.

Molecules (Basel, Switzerland)
W Xu, L Liu, D Hornby
Publication Date: 2012-10-15

Variant appearance in text: N/A
PMID: 23085658
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Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.

Circulation. Cardiovascular Genetics
Z Ahmad, B Adams-Huet, C Chen, A Garg
Publication Date: 2012-12

Variant appearance in text: N/A
PMID: 23064986
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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: N/A
PMID: 22811413
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Mechanistic implications for LDL receptor degradation from the PCSK9/LDLR structure at neutral pH.

Embo Reports
P Lo Surdo, MJ Bottomley, A Calzetta, EC Settembre, A Cirillo, S Pandit, YG Ni, B Hubbard, A Sitlani, A Carfí
Publication Date: 2011-12-01

Variant appearance in text: N/A
PMID: 22081141
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Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research
S Calandra, P Tarugi, HE Speedy, AF Dean, S Bertolini, CC Shoulders
Publication Date: 2011-11

Variant appearance in text: N/A
PMID: 21862702
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PCSK9 reduces the protein levels of the LDL receptor in mouse brain during development and after ischemic stroke.

Journal Of Lipid Research
E Rousselet, J Marcinkiewicz, J Kriz, A Zhou, ME Hatten, A Prat, NG Seidah
Publication Date: 2011-07

Variant appearance in text: N/A
PMID: 21518694
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A PCSK9-binding antibody that structurally mimics the EGF(A) domain of LDL-receptor reduces LDL cholesterol in vivo.

Journal Of Lipid Research
YG Ni, S Di Marco, JH Condra, LB Peterson, W Wang, F Wang, S Pandit, HA Hammond, R Rosa, RT Cummings, DD Wood, X Liu, MJ Bottomley, X Shen, RM Cubbon, SP Wang, DG Johns, C Volpari, L Hamuro, J Chin, L Huang, JZ Zhao, S Vitelli, P Haytko, D Wisniewski, LJ Mitnaul, CP Sparrow, B Hubbard, A Carfí, A Sitlani
Publication Date: 2011-01

Variant appearance in text: N/A
PMID: 20959675
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Antagonism of secreted PCSK9 increases low density lipoprotein receptor expression in HepG2 cells.

The Journal Of Biological Chemistry
MC McNutt, HJ Kwon, C Chen, JR Chen, JD Horton, TA Lagace
Publication Date: 2009-04-17

Variant appearance in text: N/A
PMID: 19224862
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PCSK9: a convertase that coordinates LDL catabolism.

Journal Of Lipid Research
JD Horton, JC Cohen, HH Hobbs
Publication Date: 2009-04

Variant appearance in text: N/A
PMID: 19020338
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PCSK9 function and physiology.

Journal Of Lipid Research
AS Peterson, LG Fong, SG Young
Publication Date: 2008-07

Variant appearance in text: N/A
PMID: 18663786
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PCSK9 is required for the disposal of non-acetylated intermediates of the nascent membrane protein BACE1.

Embo Reports
MC Jonas, C Costantini, L Puglielli
Publication Date: 2008-09

Variant appearance in text: N/A
PMID: 18660751
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Common and rare gene variants affecting plasma LDL cholesterol.

The Clinical Biochemist. Reviews
JR Burnett, AJ Hooper
Publication Date: 2008-02

Variant appearance in text: N/A
PMID: 18566665
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PCSK9 function and physiology.

Journal Of Lipid Research
AS Peterson, LG Fong, SG Young
Publication Date: 2008-06

Variant appearance in text: N/A
PMID: 18375913
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Evidence for positive selection in the C-terminal domain of the cholesterol metabolism gene PCSK9 based on phylogenetic analysis in 14 primate species.

Plos One
K Ding, SJ McDonough, IJ Kullo
Publication Date: 2007-10-31

Variant appearance in text: N/A
PMID: 17971861
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The self-inhibited structure of full-length PCSK9 at 1.9 A reveals structural homology with resistin within the C-terminal domain.

Proceedings Of The National Academy Of Sciences Of The United States Of America
EN Hampton, MW Knuth, J Li, JL Harris, SA Lesley, G Spraggon
Publication Date: 2007-09-11

Variant appearance in text: PCSK9: S127R
PMID: 17804797
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Degradation of the LDL receptors by PCSK9 is not mediated by a secreted protein acted upon by PCSK9 extracellularly.

Bmc Cell Biology
ØL Holla, J Cameron, KE Berge, T Ranheim, TP Leren
Publication Date: 2007-03-01

Variant appearance in text: N/A
PMID: 17328821
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Molecular biology of PCSK9: its role in LDL metabolism.

Trends In Biochemical Sciences
JD Horton, JC Cohen, HH Hobbs
Publication Date: 2007-02

Variant appearance in text: N/A
PMID: 17215125
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Secreted PCSK9 decreases the number of LDL receptors in hepatocytes and in livers of parabiotic mice.

The Journal Of Clinical Investigation
TA Lagace, DE Curtis, R Garuti, MC McNutt, SW Park, HB Prather, NN Anderson, YK Ho, RE Hammer, JD Horton
Publication Date: 2006-11

Variant appearance in text: N/A
PMID: 17080197
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Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote.

American Journal Of Human Genetics
Z Zhao, Y Tuakli-Wosornu, TA Lagace, L Kinch, NV Grishin, JD Horton, JC Cohen, HH Hobbs
Publication Date: 2006-09

Variant appearance in text: N/A
PMID: 16909389
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A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.

American Journal Of Human Genetics
IK Kotowski, A Pertsemlidis, A Luke, RS Cooper, GL Vega, JC Cohen, HH Hobbs
Publication Date: 2006-03

Variant appearance in text: N/A
PMID: 16465619
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.381T>A p.Ser127Arg missense_variant 2/12 -
ENST00000452118.2 c.381T>A p.Ser127Arg missense_variant 2/6 -
ENST00000543384.1 c.-78+3613T>A - intron_variant - 1/9
NM_174936.4 c.381T>A p.Ser127Arg missense_variant 2/12 -
NR_110451.1 n.182+3613T>A - intron_variant,non_coding_transcript_variant - 1/9