Variant ID: 1-55523163-T-G

NM_174936.3(PCSK9):c.1156T>G;(p.S386A)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


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: PCSK9: S386A
PubMed Link: 34606887
Variant Present in the following documents:
  • Main text
  • main.pdf
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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: S386A
PubMed Link: 34356856
Variant Present in the following documents:
  • Main text
  • biomedicines-09-00793.pdf
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Construction of point mutation rabbits using CRISPR/Cas9.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal Of Zhejiang University. Medical Sciences
Yan, Kunning K; Zhang, Ting T; Zha, Yiwen Y; Liang, Jingyan J; Cheng, Yong Y
Publication Date: 2021-04-25

Variant appearance in text: PCSK9: S386A
PubMed Link: 34137224
Variant Present in the following documents:
  • Main text
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PCSK9 Biology and Its Role in Atherothrombosis.

International Journal Of Molecular Sciences
Barale, Cristina C; Melchionda, Elena E; Morotti, Alessandro A; Russo, Isabella I
Publication Date: 2021-05-30

Variant appearance in text: PCSK9: S386A
PubMed Link: 34070931
Variant Present in the following documents:
  • Main text
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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: S386A
PubMed Link: 33211673
Variant Present in the following documents:
  • Main text
View BVdb publication page



A High-Throughput Luciferase Assay to Evaluate Proteolysis of the Single-Turnover Protease PCSK9.

Journal Of Visualized Experiments : Jove
Chorba, John S JS; Galvan, Adri M AM; Shokat, Kevan M KM
Publication Date: 2018-08-28

Variant appearance in text: PCSK9: S386A
PubMed Link: 30222160
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: PCSK9: S386A
PubMed Link: 29748367
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: S386A
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: S386A
PubMed Link: 29259136
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: PCSK9: S386A
PubMed Link: 27896130
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: S386A
PubMed Link: 27534510
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: S386A
PubMed Link: 25210046
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: PCSK9: S386A
PubMed Link: 24278757
Variant Present in the following documents:
  • Main text
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Regulation of epithelial sodium channel trafficking by proprotein convertase subtilisin/kexin type 9 (PCSK9).

The Journal Of Biological Chemistry
Sharotri, Vikas V; Collier, Daniel M DM; Olson, Diane R DR; Zhou, Ruifeng R; Snyder, Peter M PM
Publication Date: 2012-06-01

Variant appearance in text: PCSK9: S386A
PubMed Link: 22493497
Variant Present in the following documents:
  • Main text
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Role of the C-terminal domain of PCSK9 in degradation of the LDL receptors.

Journal Of Lipid Research
Holla, Øystein L ØL; Cameron, Jamie J; Tveten, Kristian K; Strøm, Thea Bismo TB; Berge, Knut Erik KE; Laerdahl, Jon K JK; Leren, Trond P TP
Publication Date: 2011-10

Variant appearance in text: PCSK9: S386A
PubMed Link: 21771976
Variant Present in the following documents:
  • Main text
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Plasma PCSK9 preferentially reduces liver LDL receptors in mice.

Journal Of Lipid Research
Grefhorst, Aldo A; McNutt, Markey C MC; Lagace, Thomas A TA; Horton, Jay D JD
Publication Date: 2008-06

Variant appearance in text: PCSK9: S386A
PubMed Link: 18354138
Variant Present in the following documents:
  • Main text
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Secreted PCSK9 promotes LDL receptor degradation independently of proteolytic activity.

The Biochemical Journal
Li, Jun J; Tumanut, Christine C; Gavigan, Julie-Ann JA; Huang, Waan-Jeng WJ; Hampton, Eric N EN; Tumanut, Rachelle R; Suen, Ka Fai KF; Trauger, John W JW; Spraggon, Glen G; Lesley, Scott A SA; Liau, Gene G; Yowe, David D; Harris, Jennifer L JL
Publication Date: 2007-09-01

Variant appearance in text: PCSK9: S386A
PubMed Link: 17608623
Variant Present in the following documents:
  • Main text
View BVdb publication page