Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: PCSK9: 646T>C; Phe216Leu
Emerging Insights on the Diverse Roles of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Chronic Liver Diseases: Cholesterol Metabolism and Beyond.
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: 646T>C; Phe216Leu; rs28942112
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
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: F216L; rs28942112
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
Hopkins, Paul N PN; Defesche, Joep J; Fouchier, Sigrid W SW; Bruckert, Eric E; Luc, Gérald G; Cariou, Bertrand B; Sjouke, Barbara B; Leren, Trond P TP; Harada-Shiba, Mariko M; Mabuchi, Hiroshi H; Rabès, Jean-Pierre JP; Carrié, Alain A; van Heyningen, Charles C; Carreau, Valérie V; Farnier, Michel M; Teoh, Yee P YP; Bourbon, Mafalda M; Kawashiri, Masa-Aki MA; Nohara, Atsushi A; Soran, Handrean H; Marais, A David AD; Tada, Hayato H; Abifadel, Marianne M; Boileau, Catherine C; Chanu, Bernard B; Katsuda, Shoji S; Kishimoto, Ichiro I; Lambert, Gilles G; Makino, Hisashi H; Miyamoto, Yoshihiro Y; Pichelin, Matthieu M; Yagi, Kunimasa K; Yamagishi, Masakazu M; Zair, Yassine Y; Mellis, Scott S; Yancopoulos, George D GD; Stahl, Neil N; Mendoza, Johanna J; Du, Yunling Y; Hamon, Sara S; Krempf, Michel M; Swergold, Gary D GD
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
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
Lipari, Michael T MT; Li, Wei W; Moran, Paul P; Kong-Beltran, Monica M; Sai, Tao T; Lai, Joyce J; Lin, S Jack SJ; Kolumam, Ganesh G; Zavala-Solorio, Jose J; Izrael-Tomasevic, Anita A; Arnott, David D; Wang, Jianyong J; Peterson, Andrew S AS; Kirchhofer, Daniel D
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
In vivo evidence that furin from hepatocytes inactivates PCSK9.
The Journal Of Biological Chemistry
Essalmani, Rachid R; Susan-Resiga, Delia D; Chamberland, Ann A; Abifadel, Marianne M; Creemers, John W JW; Boileau, Catherine C; Seidah, Nabil G NG; Prat, Annik A
Evidence for positive selection in the C-terminal domain of the cholesterol metabolism gene PCSK9 based on phylogenetic analysis in 14 primate species.
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
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
A common PCSK9 haplotype, encompassing the E670G coding single nucleotide polymorphism, is a novel genetic marker for plasma low-density lipoprotein cholesterol levels and severity of coronary atherosclerosis.
Journal Of The American College Of Cardiology
Chen, Suet N SN; Ballantyne, Christie M CM; Gotto, Antonio M AM; Tan, Yanli Y; Willerson, James T JT; Marian, Ali J AJ