Variant ID: 1-55512252-G-C

NM_174936.3(PCSK9):c.456G>C;(p.Q152H)

This variant was identified in 23 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: Q152H
PubMed Link: 35323658
Variant Present in the following documents:
  • metabolites-12-00215.pdf
View BVdb publication page



Emerging Insights on the Diverse Roles of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Chronic Liver Diseases: Cholesterol Metabolism and Beyond.

International Journal Of Molecular Sciences
Grewal, Thomas T; Buechler, Christa C
Publication Date: 2022-01-19

Variant appearance in text: PCSK9: Q152H
PubMed Link: 35162992
Variant Present in the following documents:
  • Main text
View BVdb publication page



Serum PCSK9 Correlates with PTX3 and Apolipoproteins B, A1, and C3 Concentrations in Patients with Type 2 Diabetes.

Cardiovascular Therapeutics
Waluś-Miarka, Małgorzata M; Kapusta, Maria M; Miarka, Przemysław P; Kawalec, Ewa E; Idzior-Waluś, Barbara B
Publication Date: 2021

Variant appearance in text: PCSK9: Q152H
PubMed Link: 35024053
Variant Present in the following documents:
  • Main text
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: Gln152His
PubMed Link: 34356856
Variant Present in the following documents:
  • Main text
  • biomedicines-09-00793.pdf
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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: Gln152His; rs1305635836
PubMed Link: 34341098
Variant Present in the following documents:
  • openhrt-2021-001710supp001.xlsx
View BVdb publication page



The loss-of-function PCSK9Q152H variant increases ER chaperones GRP78 and GRP94 and protects against liver injury.

The Journal Of Clinical Investigation
Lebeau, Paul F PF; Wassef, Hanny H; Byun, Jae Hyun JH; Platko, Khrystyna K; Ason, Brandon B; Jackson, Simon S; Dobroff, Joshua J; Shetterly, Susan S; Richards, William G WG; Al-Hashimi, Ali A AA; Won, Kevin Doyoon KD; Mbikay, Majambu M; Prat, Annik A; Tang, An A; Paré, Guillaume G; Pasqualini, Renata R; Seidah, Nabil G NG; Arap, Wadih W; Chrétien, Michel M; Austin, Richard C RC
Publication Date: 2021-01-19

Variant appearance in text: PCSK9: Gln152His
PubMed Link: 33211673
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: Q152H
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
  • fgene-11-01020.pdf
View BVdb publication page



Pcsk9 knockout exacerbates diet-induced non-alcoholic steatohepatitis, fibrosis and liver injury in mice.

Jhep Reports : Innovation In Hepatology
Lebeau, Paul F PF; Byun, Jae Hyun JH; Platko, Khrystyna K; Al-Hashimi, Ali A AA; Lhoták, Šárka Š; MacDonald, Melissa E ME; Mejia-Benitez, Aurora A; Prat, Annik A; Igdoura, Suleiman A SA; Trigatti, Bernardo B; Maclean, Kenneth N KN; Seidah, Nabil G NG; Austin, Richard C RC
Publication Date: 2019-12

Variant appearance in text: PCSK9: Q152H
PubMed Link: 32039393
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: Q152H
PubMed Link: 30629143
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: PCSK9: Q152H
PubMed Link: 29593095
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: Q152H
PubMed Link: 29259136
Variant Present in the following documents:
  • Main text
View BVdb publication page



PCSK9 as a therapeutic target for cardiovascular disease.

Experimental And Therapeutic Medicine
Zhang, Pei-Ying PY
Publication Date: 2017-03

Variant appearance in text: PCSK9: Q152H
PubMed Link: 28450903
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lowering serum lipids via PCSK9-targeting drugs: current advances and future perspectives.

Acta Pharmacologica Sinica
He, Ni-Ya NY; Li, Qing Q; Wu, Chun-Yan CY; Ren, Zhong Z; Gao, Ya Y; Pan, Li-Hong LH; Wang, Mei-Mei MM; Wen, Hong-Yan HY; Jiang, Zhi-Sheng ZS; Tang, Zhi-Han ZH; Liu, Lu-Shan LS
Publication Date: 2017-03

Variant appearance in text: PCSK9: Q152H
PubMed Link: 28112180
Variant Present in the following documents:
  • Main text
View BVdb publication page



Point mutations at the catalytic site of PCSK9 inhibit folding, autoprocessing, and interaction with the LDL receptor.

Protein Science : A Publication Of The Protein Society
Garvie, Colin W CW; Fraley, Cara V CV; Elowe, Nadine H NH; Culyba, Elizabeth K EK; Lemke, Christopher T CT; Hubbard, Brian K BK; Kaushik, Virendar K VK; Daniels, Douglas S DS
Publication Date: 2016-11

Variant appearance in text: PCSK9: Q152H
PubMed Link: 27534510
Variant Present in the following documents:
  • Main text
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: PCSK9: Q152H
PubMed Link: 27280970
Variant Present in the following documents:
  • Main text
View BVdb publication page



β-Estradiol results in a proprotein convertase subtilisin/kexin type 9-dependent increase in low-density lipoprotein receptor levels in human hepatic HuH7 cells.

The Febs Journal
Starr, Amanda E AE; Lemieux, Valérie V; Noad, Jenny J; Moore, Jasmine I JI; Dewpura, Thilina T; Raymond, Angela A; Chrétien, Michel M; Figeys, Daniel D; Mayne, Janice J
Publication Date: 2015-07

Variant appearance in text: PCSK9: Q152H
PubMed Link: 25913303
Variant Present in the following documents:
  • Main text
View BVdb publication page



The proprotein convertase subtilisin/kexin type 9 (PCSK9) active site and cleavage sequence differentially regulate protein secretion from proteolysis.

The Journal Of Biological Chemistry
Chorba, John S JS; Shokat, Kevan M KM
Publication Date: 2014-10-17

Variant appearance in text: PCSK9: Q152H
PubMed Link: 25210046
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessing the functional consequence of loss of function variants using electronic medical record and large-scale genomics consortium efforts.

Frontiers In Genetics
Sleiman, Patrick P; Bradfield, Jonathan J; Mentch, Frank F; Almoguera, Berta B; Connolly, John J; Hakonarson, Hakon H
Publication Date: 2014

Variant appearance in text: PCSK9: Q152H
PubMed Link: 24808909
Variant Present in the following documents:
  • Main text
View BVdb publication page



PCSK9 prosegment chimera as novel inhibitors of LDLR degradation.

Plos One
Saavedra, Yascara Grisel Luna YG; Zhang, Jianbing J; Seidah, Nabil G NG
Publication Date: 2013

Variant appearance in text: PCSK9: Q152H
PubMed Link: 23951290
Variant Present in the following documents:
  • Main text
View BVdb publication page



The multifaceted proprotein convertases: their unique, redundant, complementary, and opposite functions.

The Journal Of Biological Chemistry
Seidah, Nabil G NG; Sadr, Mohamad S MS; Chrétien, Michel M; Mbikay, Majambu M
Publication Date: 2013-07-26

Variant appearance in text: PCSK9: Q152H
PubMed Link: 23775089
Variant Present in the following documents:
  • Main text
View BVdb publication page



Differential effects of PCSK9 loss of function variants on serum lipid and PCSK9 levels in Caucasian and African Canadian populations.

Lipids In Health And Disease
Mayne, Janice J; Ooi, Teik Chye TC; Raymond, Angela A; Cousins, Marion M; Bernier, Lise L; Dewpura, Thilina T; Sirois, Francine F; Mbikay, Majambu M; Davignon, Jean J; Chrétien, Michel M
Publication Date: 2013-05-10

Variant appearance in text: PCSK9: Q152H
PubMed Link: 23663650
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetic spectrum of familial hypercholesterolemia in Pakistan.

Clinica Chimica Acta; International Journal Of Clinical Chemistry
Ahmed, Waqas W; Whittall, Ros R; Riaz, Moeen M; Ajmal, Muhammad M; Sadeque, Ahmed A; Ayub, Humaira H; Qamar, Raheel R; Humphries, Steve E SE
Publication Date: 2013-06-05

Variant appearance in text: PCSK9: Q152H
PubMed Link: 23535506
Variant Present in the following documents:
  • Main text
View BVdb publication page



Loss- and gain-of-function PCSK9 variants: cleavage specificity, dominant negative effects, and low density lipoprotein receptor (LDLR) degradation.

The Journal Of Biological Chemistry
Benjannet, Suzanne S; Hamelin, Josée J; Chrétien, Michel M; Seidah, Nabil G NG
Publication Date: 2012-09-28

Variant appearance in text: PCSK9: Q152H
PubMed Link: 22875854
Variant Present in the following documents:
  • Main text
View BVdb publication page