PCSK9 c.1363_1364delinsTA ;(p.L455*)

Variant ID: 1-55524180-CT-TA

NM_174936.3(PCSK9):c.1363_1364delinsTA;(p.L455*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


PCSK9 regulates the NODAL signaling pathway and cellular proliferation in hiPSCs.

Stem Cell Reports
Roudaut, Meryl M; Idriss, Salam S; Caillaud, Amandine A; Girardeau, Aurore A; Rimbert, Antoine A; Champon, Benoite B; David, Amandine A; Lévêque, Antoine A; Arnaud, Lucie L; Pichelin, Matthieu M; Prieur, Xavier X; Prat, Annik A; Seidah, Nabil G NG; Zibara, Kazem K; Le May, Cedric C; Cariou, Bertrand B; Si-Tayeb, Karim K
Publication Date: 2021-12-14

Variant appearance in text: PCSK9: L455X
PubMed Link: 34739847
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



PCSK9 regulates the NODAL signaling pathway and cellular proliferation in hiPSCs.

Stem Cell Reports
Roudaut, Meryl M; Idriss, Salam S; Caillaud, Amandine A; Girardeau, Aurore A; Rimbert, Antoine A; Champon, Benoite B; David, Amandine A; Lévêque, Antoine A; Arnaud, Lucie L; Pichelin, Matthieu M; Prieur, Xavier X; Prat, Annik A; Seidah, Nabil G NG; Zibara, Kazem K; Le May, Cedric C; Cariou, Bertrand B; Si-Tayeb, Karim K
Publication Date: 2021-10-26

Variant appearance in text: PCSK9: L455X
PubMed Link: 34739847
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Roles of the low density lipoprotein receptor and related receptors in inhibition of lipoprotein(a) internalization by proprotein convertase subtilisin/kexin type 9.

Plos One
Romagnuolo, Rocco R; Scipione, Corey A CA; Marcovina, Santica M SM; Gemin, Matthew M; Seidah, Nabil G NG; Boffa, Michael B MB; Koschinsky, Marlys L ML
Publication Date: 2017

Variant appearance in text: PCSK9: L455X
PubMed Link: 28750079
Variant Present in the following documents:
  • Main text
  • pone.0180869.pdf
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: L455X
PubMed Link: 27896130
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Annexin A2 reduces PCSK9 protein levels via a translational mechanism and interacts with the M1 and M2 domains of PCSK9.

The Journal Of Biological Chemistry
Ly, Kévin K; Saavedra, Yascara Grisel Luna YG; Canuel, Maryssa M; Routhier, Sophie S; Desjardins, Roxane R; Hamelin, Josée J; Mayne, Janice J; Lazure, Claude C; Seidah, Nabil G NG; Day, Robert R
Publication Date: 2014-06-20

Variant appearance in text: PCSK9: L455X
PubMed Link: 24808179
Variant Present in the following documents:
  • Main text
View BVdb publication page



The M2 module of the Cys-His-rich domain (CHRD) of PCSK9 protein is needed for the extracellular low-density lipoprotein receptor (LDLR) degradation pathway.

The Journal Of Biological Chemistry
Saavedra, Yascara Grisel Luna YG; Day, Robert R; Seidah, Nabil G NG
Publication Date: 2012-12-21

Variant appearance in text: PCSK9: L455X
PubMed Link: 23105118
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: L455X
PubMed Link: 21771976
Variant Present in the following documents:
  • Main text
View BVdb publication page