Variant ID: 1-55518341-CA-GC

NM_174936.3(PCSK9):c.676_677delinsGC;(p.H226A)

This variant was identified in 8 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: H226A
PubMed Link: 34606887
Variant Present in the following documents:
  • Main text
  • main.pdf
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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: PCSK9: H226A
PubMed Link: 28971102
Variant Present in the following documents:
  • Main text
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The cytosolic adaptor AP-1A is essential for the trafficking and function of Niemann-Pick type C proteins.

Traffic (Copenhagen, Denmark)
Poirier, Steve S; Mayer, Gaétan G; Murphy, Stephanie R SR; Garver, William S WS; Chang, Ta Yuan TY; Schu, Peter P; Seidah, Nabil G NG
Publication Date: 2013-04

Variant appearance in text: PCSK9: H226A
PubMed Link: 23350547
Variant Present in the following documents:
  • Main text
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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: H226A
PubMed Link: 22875854
Variant Present in the following documents:
  • Main text
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Effects of the prosegment and pH on the activity of PCSK9: evidence for additional processing events.

The Journal Of Biological Chemistry
Benjannet, Suzanne S; Saavedra, Yascara Grisel Luna YG; Hamelin, Josée J; Asselin, Marie-Claude MC; Essalmani, Rachid R; Pasquato, Antonella A; Lemaire, Peter P; Duke, Gerald G; Miao, Bowman B; Duclos, Franck F; Parker, Rex R; Mayer, Gaétan G; Seidah, Nabil G NG
Publication Date: 2010-12-24

Variant appearance in text: PCSK9: H226A
PubMed Link: 20937814
Variant Present in the following documents:
  • Main text
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Dissection of the endogenous cellular pathways of PCSK9-induced low density lipoprotein receptor degradation: evidence for an intracellular route.

The Journal Of Biological Chemistry
Poirier, Steve S; Mayer, Gaetan G; Poupon, Viviane V; McPherson, Peter S PS; Desjardins, Roxane R; Ly, Kevin K; Asselin, Marie-Claude MC; Day, Robert R; Duclos, Franck J FJ; Witmer, Mark M; Parker, Rex R; Prat, Annik A; Seidah, Nabil G NG
Publication Date: 2009-10-16

Variant appearance in text: PCSK9: H226A
PubMed Link: 19635789
Variant Present in the following documents:
  • Main text
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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

Variant appearance in text: PCSK9: H226A
PubMed Link: 18660751
Variant Present in the following documents:
  • Main text
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The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): liver regeneration and neuronal differentiation.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Seidah, Nabil G NG; Benjannet, Suzanne S; Wickham, Louise L; Marcinkiewicz, Jadwiga J; Jasmin, Stephanie Belanger SB; Stifani, Stefano S; Basak, Ajoy A; Prat, Annik A; Chretien, Michel M
Publication Date: 2003-02-04

Variant appearance in text: NARC-1: H226A
PubMed Link: 12552133
Variant Present in the following documents:
  • Main text
View BVdb publication page