Variant ID: 1-55509689-T-A

NM_174936.3(PCSK9):c.381T>A;(p.S127R)

This variant was identified in 73 publications

View GRCh38 version.




Publications:


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: S127R
PubMed Link: 35323699
Variant Present in the following documents:
  • metabolites-12-00256.pdf
View BVdb publication page



A Systematic Approach to Assess the Activity and Classification of PCSK9 Variants.

International Journal Of Molecular Sciences
Uribe, Kepa B KB; Chemello, Kevin K; Larrea-Sebal, Asier A; Benito-Vicente, Asier A; Galicia-Garcia, Unai U; Bourane, Steeve S; Jaafar, Ali K AK; Lambert, Gilles G; Martín, César C
Publication Date: 2021-12-18

Variant appearance in text: PCSK9: S127R
PubMed Link: 34948399
Variant Present in the following documents:
  • Main text
  • ijms-22-13602.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: N/A
PubMed Link: 34782856
Variant Present in the following documents:
View BVdb publication page



The PCSK9 discovery, an inactive protease with varied functions in hypercholesterolemia, viral infections, and cancer.

Journal Of Lipid Research
Seidah, Nabil G NG
Publication Date: 2021-10-01

Variant appearance in text: N/A
PubMed Link: 34606887
Variant Present in the following documents:
View BVdb publication page



Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia.

Journal Of Personalized Medicine
Hindi, Nagham N NN; Alenbawi, Jamil J; Nemer, Georges G
Publication Date: 2021-08-31

Variant appearance in text: PCSK9: S127R; rs28942111
PubMed Link: 34575654
Variant Present in the following documents:
  • Main text
  • jpm-11-00877.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: S127R; rs28942111
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: 381T>A; Ser127Arg; rs28942111
PubMed Link: 34341098
Variant Present in the following documents:
  • openhrt-2021-001710supp001.xlsx
View BVdb publication page



Circulating Proprotein Convertase Subtilisin/Kexin Type 9 Levels and Cardiometabolic Risk Factors: A Population-Based Cohort Study.

Frontiers In Cardiovascular Medicine
Shi, Jie J; Li, Xiaoyong X; Zhang, Weiwei W; Niu, Yixin Y; Lin, Ning N; Zhang, Hongmei H; Ning, Guang G; Fan, Jiangao J; Qin, Li L; Su, Qing Q; Yang, Zhen Z
Publication Date: 2021

Variant appearance in text: N/A
PubMed Link: 34041285
Variant Present in the following documents:
View BVdb publication page



Urine-derived induced pluripotent/neural stem cells for modeling neurological diseases.

Cell & Bioscience
Shi, Tianyuan T; Cheung, Martin M
Publication Date: 2021-05-13

Variant appearance in text: PCSK9: S127R
PubMed Link: 33985584
Variant Present in the following documents:
  • Main text
View BVdb publication page



New Insights Into the Regulation of Lipoprotein Metabolism by PCSK9: Lessons From Stable Isotope Tracer Studies in Human Subjects.

Frontiers In Physiology
Ying, Qidi Q; Chan, Dick C DC; Watts, Gerald F GF
Publication Date: 2021

Variant appearance in text: PCSK9: S127R
PubMed Link: 33643062
Variant Present in the following documents:
  • Main text
  • fphys-12-603910.pdf
View BVdb publication page



Comprehensive characterization of protein-protein interactions perturbed by disease mutations.

Nature Genetics
Cheng, Feixiong F; Zhao, Junfei J; Wang, Yang Y; Lu, Weiqiang W; Liu, Zehui Z; Zhou, Yadi Y; Martin, William R WR; Wang, Ruisheng R; Huang, Jin J; Hao, Tong T; Yue, Hong H; Ma, Jing J; Hou, Yuan Y; Castrillon, Jessica A JA; Fang, Jiansong J; Lathia, Justin D JD; Keri, Ruth A RA; Lightstone, Felice C FC; Antman, Elliott Marshall EM; Rabadan, Raul R; Hill, David E DE; Eng, Charis C; Vidal, Marc M; Loscalzo, Joseph J
Publication Date: 2021-03

Variant appearance in text: N/A
PubMed Link: 33558758
Variant Present in the following documents:
View BVdb publication page



The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Frontiers In Genetics
Kamar, Amina A; Khalil, Athar A; Nemer, Georges G
Publication Date: 2020

Variant appearance in text: PCSK9: Ser127Arg
PubMed Link: 33519890
Variant Present in the following documents:
  • Main text
  • fgene-11-572045.pdf
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: S127R
PubMed Link: 33244470
Variant Present in the following documents:
  • Main text
  • fcvm-07-582865.pdf
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: S127R
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
  • fgene-11-01020.pdf
View BVdb publication page



Genetics of Familial Hypercholesterolemia: New Insights.

Frontiers In Genetics
Vrablik, Michal M; Tichý, Lukas L; Freiberger, Tomas T; Blaha, Vladimir V; Satny, Martin M; Hubacek, Jaroslav A JA
Publication Date: 2020

Variant appearance in text: PCSK9: Ser127Arg
PubMed Link: 33133164
Variant Present in the following documents:
  • Main text
  • fgene-11-574474.pdf
View BVdb publication page



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

International Journal Of Molecular Sciences
Martin, William R WR; Lightstone, Felice C FC; Cheng, Feixiong F
Publication Date: 2020-02-25

Variant appearance in text: PCSK9: Ser127Arg
PubMed Link: 32106405
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genotyping and Frequency of PCSK9 Variations Among Hypercholesterolemic and Diabetic Subjects.

Indian Journal Of Clinical Biochemistry : Ijcb
Nuglozeh, Edem E; Fazaludeen, Mohammad Feroze MF; Hasona, Nabil N; Malm, Tarja T; Mayor, Luisito B LB; Al-Hazmi, Awdah A; Ashankyty, Ibraheem I
Publication Date: 2019-10

Variant appearance in text: PCSK9: S127R
PubMed Link: 31686731
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel strategies to target proprotein convertase subtilisin kexin 9: beyond monoclonal antibodies.

Cardiovascular Research
Seidah, Nabil G NG; Prat, Annik A; Pirillo, Angela A; Catapano, Alberico Luigi AL; Norata, Giuseppe Danilo GD
Publication Date: 2019-03-01

Variant appearance in text: PCSK9: S127R
PubMed Link: 30629143
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Tuñón, José J; Badimón, Lina L; Bochaton-Piallat, Marie-Luce ML; Cariou, Bertrand B; Daemen, Mat J MJ; Egido, Jesus J; Evans, Paul C PC; Hoefer, Imo E IE; Ketelhuth, Daniel F J DFJ; Lutgens, Esther E; Matter, Christian M CM; Monaco, Claudia C; Steffens, Sabine S; Stroes, Erik E; Vindis, Cécile C; Weber, Christian C; Bäck, Magnus M
Publication Date: 2019-01-01

Variant appearance in text: PCSK9: S127R
PubMed Link: 30534957
Variant Present in the following documents:
  • Main text
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: S127R
PubMed Link: 30463987
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Emerging Role of PCSK9 Inhibitors in Preventive Cardiology.

European Cardiology
Pitts, Reynaria N RN; Eckel, Robert H RH
Publication Date: 2014-12

Variant appearance in text: PCSK9: S127R
PubMed Link: 30310488
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: N/A
PubMed Link: 29748367
Variant Present in the following documents:
View BVdb publication page



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

Anatolian Journal Of Cardiology
Eroğlu, Zuhal Z; Tetik Vardarlı, Aslı A; Düzgün, Zekeriya Z; Gündüz, Cumhur C; Bozok Çetintaş, Vildan V; Kayıkçıoğlu, Meral M
Publication Date: 2018-05

Variant appearance in text: PCSK9: S127R; rs28942111
PubMed Link: 29724976
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Lebeau, Paul P; Platko, Khrystyna K; Al-Hashimi, Ali A AA; Byun, Jae Hyun JH; Lhoták, Šárka Š; Holzapfel, Nicholas N; Gyulay, Gabriel G; Igdoura, Suleiman A SA; Cool, David R DR; Trigatti, Bernardo B; Seidah, Nabil G NG; Austin, Richard C RC
Publication Date: 2018-05-11

Variant appearance in text: N/A
PubMed Link: 29593095
Variant Present in the following documents:
View BVdb publication page



New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.

Scientific Reports
Elbitar, Sandy S; Susan-Resiga, Delia D; Ghaleb, Youmna Y; El Khoury, Petra P; Peloso, Gina G; Stitziel, Nathan N; Rabès, Jean-Pierre JP; Carreau, Valérie V; Hamelin, Josée J; Ben-Djoudi-Ouadda, Ali A; Bruckert, Eric E; Boileau, Catherine C; Seidah, Nabil G NG; Varret, Mathilde M; Abifadel, Marianne M
Publication Date: 2018-01-31

Variant appearance in text: N/A
PubMed Link: 29386597
Variant Present in the following documents:
View BVdb publication page



Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?

European Journal Of Human Genetics : Ejhg
Ghaleb, Youmna Y; Elbitar, Sandy S; El Khoury, Petra P; Bruckert, Eric E; Carreau, Valérie V; Carrié, Alain A; Moulin, Philippe P; Di-Filippo, Mathilde M; Charriere, Sybil S; Iliozer, Harout H; Farnier, Michel M; Luc, Gérald G; Rabès, Jean-Pierre JP; Boileau, Catherine C; Abifadel, Marianne M; Varret, Mathilde M
Publication Date: 2018-04

Variant appearance in text: PCSK9: 381T>A; Ser127Arg; rs28942111
PubMed Link: 29374275
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: N/A
PubMed Link: 29259136
Variant Present in the following documents:
View BVdb publication page



Urine-Derived Stem Cells: The Present and the Future.

Stem Cells International
Ji, Xiaoli X; Wang, Min M; Chen, Fang F; Zhou, Junmei J
Publication Date: 2017

Variant appearance in text: N/A
PubMed Link: 29250119
Variant Present in the following documents:
View BVdb publication page



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

Global Cardiology Science & Practice
Seidah, Nabil G NG
Publication Date: 2017-03-31

Variant appearance in text: N/A
PubMed Link: 28971102
Variant Present in the following documents:
View BVdb publication page



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
Kaya, Esra E; Kayıkçıoğlu, Meral M; Tetik Vardarlı, Aslı A; Eroğlu, Zuhal Z; Payzın, Serdar S; Can, Levent L
Publication Date: 2017-10

Variant appearance in text: PCSK9: S127R; rs28942111
PubMed Link: 28777095
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Fu, Ting T; Guan, YangYang Y; Xu, Junjie J; Wang, Yan Y
Publication Date: 2017-09

Variant appearance in text: N/A
PubMed Link: 28495363
Variant Present in the following documents:
View BVdb publication page



Physiological and therapeutic regulation of PCSK9 activity in cardiovascular disease.

Basic Research In Cardiology
Glerup, Simon S; Schulz, Rainer R; Laufs, Ulrich U; Schlüter, Klaus-Dieter KD
Publication Date: 2017-05

Variant appearance in text: N/A
PubMed Link: 28439730
Variant Present in the following documents:
View BVdb publication page



PCSK9 and Atherosclerosis - Lipids and Beyond.

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

Variant appearance in text: N/A
PubMed Link: 28302950
Variant Present in the following documents:
View BVdb publication page



The Relationship Between Coronary Artery Disease and Genetic Polymorphisms of Melanoma Inhibitory Activity 3.

Iranian Red Crescent Medical Journal
Zaimkohan, Hooshang H; Keramatipour, Mohammad M; Mirhafez, Seyed Reza SR; Tavakkoly-Bazzaz, Javad J; Tahooni, Azadeh A; Piryaei, Mohammad M; Ghayour-Mobarhan, Majid M; Ghaderian, Seyed Mohammad Hossein SM
Publication Date: 2016-09

Variant appearance in text: PCSK9: S127R
PubMed Link: 28180021
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Wierød, Lene L; Cameron, Jamie J; Strøm, Thea Bismo TB; Leren, Trond P TP
Publication Date: 2016-12

Variant appearance in text: N/A
PubMed Link: 27896130
Variant Present in the following documents:
View BVdb publication page



Biology of proprotein convertase subtilisin kexin 9: beyond low-density lipoprotein cholesterol lowering.

Cardiovascular Research
Norata, Giuseppe Danilo GD; Tavori, Hagai H; Pirillo, Angela A; Fazio, Sergio S; Catapano, Alberico L AL
Publication Date: 2016-10

Variant appearance in text: N/A
PubMed Link: 27496869
Variant Present in the following documents:
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: N/A
PubMed Link: 27280970
Variant Present in the following documents:
View BVdb publication page



The impact of genome-wide association studies on the pathophysiology and therapy of cardiovascular disease.

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

Variant appearance in text: PCSK9: S127R
PubMed Link: 27189168
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human PCSK9 promotes hepatic lipogenesis and atherosclerosis development via apoE- and LDLR-mediated mechanisms.

Cardiovascular Research
Tavori, Hagai H; Giunzioni, Ilaria I; Predazzi, Irene M IM; Plubell, Deanna D; Shivinsky, Anna A; Miles, Joshua J; Devay, Rachel M RM; Liang, Hong H; Rashid, Shirya S; Linton, MacRae F MF; Fazio, Sergio S
Publication Date: 2016-05-15

Variant appearance in text: N/A
PubMed Link: 26980204
Variant Present in the following documents:
View BVdb publication page



Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.

Journal Of Lipid Research
Wintjens, René R; Bozon, Dominique D; Belabbas, Khaldia K; MBou, Félicien F; Girardet, Jean-Philippe JP; Tounian, Patrick P; Jolly, Mathilde M; Boccara, Franck F; Cohen, Ariel A; Karsenty, Alexandra A; Dubern, Béatrice B; Carel, Jean-Claude JC; Azar-Kolakez, Ahlam A; Feillet, François F; Labarthe, François F; Gorsky, Anne-Marie Colin AM; Horovitz, Alice A; Tamarindi, Catherine C; Kieffer, Pierre P; Lienhardt, Anne A; Lascols, Olivier O; Di Filippo, Mathilde M; Dufernez, Fabienne F
Publication Date: 2016-03

Variant appearance in text: PCSK9: Ser127Arg
PubMed Link: 26802169
Variant Present in the following documents:
  • Main text
View BVdb publication page



Urine-sample-derived human induced pluripotent stem cells as a model to study PCSK9-mediated autosomal dominant hypercholesterolemia.

Disease Models & Mechanisms
Si-Tayeb, Karim K; Idriss, Salam S; Champon, Benoite B; Caillaud, Amandine A; Pichelin, Matthieu M; Arnaud, Lucie L; Lemarchand, Patricia P; Le May, Cédric C; Zibara, Kazem K; Cariou, Bertrand B
Publication Date: 2016-01

Variant appearance in text: N/A
PubMed Link: 26586530
Variant Present in the following documents:
View BVdb publication page



PCSK9 and triglyceride-rich lipoprotein metabolism.

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

Variant appearance in text: N/A
PubMed Link: 26320603
Variant Present in the following documents:
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: N/A
PubMed Link: 26195630
Variant Present in the following documents:
View BVdb publication page



Exome sequencing in suspected monogenic dyslipidemias.

Circulation. Cardiovascular Genetics
Stitziel, Nathan O NO; Peloso, Gina M GM; Abifadel, Marianne M; Cefalu, Angelo B AB; Fouchier, Sigrid S; Motazacker, M Mahdi MM; Tada, Hayato H; Larach, Daniel B DB; Awan, Zuhier Z; Haller, Jorge F JF; Pullinger, Clive R CR; Varret, Mathilde M; Rabès, Jean-Pierre JP; Noto, Davide D; Tarugi, Patrizia P; Kawashiri, Masa-Aki MA; Nohara, Atsushi A; Yamagishi, Masakazu M; Risman, Marjorie M; Deo, Rahul R; Ruel, Isabelle I; Shendure, Jay J; Nickerson, Deborah A DA; Wilson, James G JG; Rich, Stephen S SS; Gupta, Namrata N; Farlow, Deborah N DN; Neale, Benjamin M BM; Daly, Mark J MJ; Kane, John P JP; Freeman, Mason W MW; Genest, Jacques J; Rader, Daniel J DJ; Mabuchi, Hiroshi H; Kastelein, John J P JJ; Hovingh, G Kees GK; Averna, Maurizio R MR; Gabriel, Stacey S; Boileau, Catherine C; Kathiresan, Sekar S
Publication Date: 2015-04

Variant appearance in text: N/A
PubMed Link: 25632026
Variant Present in the following documents:
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: N/A
PubMed Link: 25600226
Variant Present in the following documents:
View BVdb publication page



On the function and homeostasis of PCSK9: reciprocal interaction with LDLR and additional lipid effects.

Atherosclerosis
Tavori, Hagai H; Rashid, Shirya S; Fazio, Sergio S
Publication Date: 2015-02

Variant appearance in text: N/A
PubMed Link: 25544176
Variant Present in the following documents:
View BVdb publication page



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
Elshourbagy, Nabil A NA; Meyers, Harold V HV; Abdel-Meguid, Sherin S SS
Publication Date: 2014

Variant appearance in text: N/A
PubMed Link: 24334831
Variant Present in the following documents:
View BVdb publication page



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

Biomed Research International
de Almeida, Elaine Regina Delicato ER; Reiche, Edna Maria Vissoci EM; Kallaur, Ana Paula AP; Flauzino, Tamires T; Watanabe, Maria Angelica Ehara MA
Publication Date: 2013

Variant appearance in text: PCSK9: Ser127Arg
PubMed Link: 24319689
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proprotein convertase subtilisin/kexin type 9: from the discovery to the development of new therapies for cardiovascular diseases.

Scientifica
Ferri, Nicola N
Publication Date: 2012

Variant appearance in text: N/A
PubMed Link: 24278757
Variant Present in the following documents:
View BVdb publication page



Autosomal dominant hypercholesterolemia: needs for early diagnosis and cascade screening in the tunisian population.

Current Genomics
Jelassi, Awatef A; Najah, Mohamed M; Slimani, Afef A; Jguirim, Imen I; Slimane, Mohamed Naceur MN; Varret, Mathilde M
Publication Date: 2013-03

Variant appearance in text: N/A
PubMed Link: 23997648
Variant Present in the following documents:
View BVdb publication page



The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations.

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

Variant appearance in text: N/A
PubMed Link: 23776352
Variant Present in the following documents:
View BVdb publication page



More on cholesterol trafficking in the body!

Oman Medical Journal
Al-Musalhi, Khawla K; Nair, Devaki R DR
Publication Date: 2013-03

Variant appearance in text: PCSK9: S127R
PubMed Link: 23599873
Variant Present in the following documents:
  • Main text
View BVdb publication page



Plasma PCSK9 concentrations during an oral fat load and after short term high-fat, high-fat high-protein and high-fructose diets.

Nutrition & Metabolism
Cariou, Bertrand B; Langhi, Cédric C; Le Bras, Maëlle M; Bortolotti, Murielle M; Lê, Kim-Anne KA; Theytaz, Fanny F; Le May, Cédric C; Guyomarc'h-Delasalle, Béatrice B; Zaïr, Yassine Y; Kreis, Roland R; Boesch, Chris C; Krempf, Michel M; Tappy, Luc L; Costet, Philippe P
Publication Date: 2013-01-08

Variant appearance in text: N/A
PubMed Link: 23298392
Variant Present in the following documents:
View BVdb publication page



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)
Xu, Weiming W; Liu, Lizhi L; Hornby, David D
Publication Date: 2012-10-15

Variant appearance in text: PCSK9: S127R
PubMed Link: 23085658
Variant Present in the following documents:
  • Main text
View BVdb publication page



Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.

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

Variant appearance in text: FH3: S127R
PubMed Link: 23064986
Variant Present in the following documents:
  • Main text
View BVdb publication page



The PCSK9 decade.

Journal Of Lipid Research
Lambert, Gilles G; Sjouke, Barbara B; Choque, Benjamin B; Kastelein, John J P JJ; Hovingh, G Kees GK
Publication Date: 2012-12

Variant appearance in text: N/A
PubMed Link: 22811413
Variant Present in the following documents:
View BVdb publication page



Mechanistic implications for LDL receptor degradation from the PCSK9/LDLR structure at neutral pH.

Embo Reports
Lo Surdo, Paola P; Bottomley, Matthew J MJ; Calzetta, Alessandra A; Settembre, Ethan C EC; Cirillo, Agostino A; Pandit, Shilpa S; Ni, Yan G YG; Hubbard, Brian B; Sitlani, Ayesha A; Carfí, Andrea A
Publication Date: 2011-12-01

Variant appearance in text: N/A
PubMed Link: 22081141
Variant Present in the following documents:
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

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PubMed Link: 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
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

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PubMed Link: 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
Ni, Yan G YG; Di Marco, Stefania S; Condra, Jon H JH; Peterson, Laurence B LB; Wang, Weirong W; Wang, Fubao F; Pandit, Shilpa S; Hammond, Holly A HA; Rosa, Ray R; Cummings, Richard T RT; Wood, Dana D DD; Liu, Xiaomei X; Bottomley, Matthew J MJ; Shen, Xun X; Cubbon, Rose M RM; Wang, Sheng-ping SP; Johns, Douglas G DG; Volpari, Cinzia C; Hamuro, Lora L; Chin, Jayne J; Huang, Lingyi L; Zhao, Jing Zhang JZ; Vitelli, Salvatore S; Haytko, Peter P; Wisniewski, Douglas D; Mitnaul, Lyndon J LJ; Sparrow, Carl P CP; Hubbard, Brian B; Carfí, Andrea A; Sitlani, Ayesha A
Publication Date: 2011-01

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PubMed Link: 20959675
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Antagonism of secreted PCSK9 increases low density lipoprotein receptor expression in HepG2 cells.

The Journal Of Biological Chemistry
McNutt, Markey C MC; Kwon, Hyock Joo HJ; Chen, Chiyuan C; Chen, Justin R JR; Horton, Jay D JD; Lagace, Thomas A TA
Publication Date: 2009-04-17

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PubMed Link: 19224862
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PCSK9: a convertase that coordinates LDL catabolism.

Journal Of Lipid Research
Horton, Jay D JD; Cohen, Jonathan C JC; Hobbs, Helen H HH
Publication Date: 2009-04

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PubMed Link: 19020338
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PCSK9 function and physiology.

Journal Of Lipid Research
Peterson, Andrew S AS; Fong, Loren G LG; Young, Stephen G SG
Publication Date: 2008-07

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PubMed Link: 18663786
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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

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PubMed Link: 18660751
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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

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PubMed Link: 18566665
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PCSK9 function and physiology.

Journal Of Lipid Research
Peterson, Andrew S AS; Fong, Loren G LG; Young, Stephen G SG
Publication Date: 2008-06

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PubMed Link: 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
Ding, Keyue K; McDonough, Samantha J SJ; Kullo, Iftikhar J IJ
Publication Date: 2007-10-31

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PubMed Link: 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
Hampton, Eric N EN; Knuth, Mark W MW; Li, Jun J; Harris, Jennifer L JL; Lesley, Scott A SA; Spraggon, Glen G
Publication Date: 2007-09-11

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PubMed Link: 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
Holla, Øystein L ØL; Cameron, Jamie J; Berge, Knut Erik KE; Ranheim, Trine T; Leren, Trond P TP
Publication Date: 2007-03-01

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PubMed Link: 17328821
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Molecular biology of PCSK9: its role in LDL metabolism.

Trends In Biochemical Sciences
Horton, Jay D JD; Cohen, Jonathan C JC; Hobbs, Helen H HH
Publication Date: 2007-02

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PubMed Link: 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
Lagace, Thomas A TA; Curtis, David E DE; Garuti, Rita R; McNutt, Markey C MC; Park, Sahng Wook SW; Prather, Heidi B HB; Anderson, Norma N NN; Ho, Y K YK; Hammer, Robert E RE; Horton, Jay D JD
Publication Date: 2006-11

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PubMed Link: 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
Zhao, Zhenze Z; Tuakli-Wosornu, Yetsa Y; Lagace, Thomas A TA; Kinch, Lisa L; Grishin, Nicholas V NV; Horton, Jay D JD; Cohen, Jonathan C JC; Hobbs, Helen H HH
Publication Date: 2006-09

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PubMed Link: 16909389
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A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.

American Journal Of Human Genetics
Kotowski, Ingrid K IK; Pertsemlidis, Alexander A; Luke, Amy A; Cooper, Richard S RS; Vega, Gloria L GL; Cohen, Jonathan C JC; Hobbs, Helen H HH
Publication Date: 2006-03

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PubMed Link: 16465619
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