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Pathogenic gain-of-function mutations in the prodomain and C-terminal domain of PCSK9 inhibit LDL binding

Proprotein convertase subtilisin/kexin type-9 (PCSK9) is a secreted protein that binds and mediates endo-lysosomal degradation of low-density lipoprotein receptor (LDLR), limiting plasma clearance of cholesterol-rich LDL particles in liver. Gain-of-function (GOF) point mutations in PCSK9 are associa...

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Detalles Bibliográficos
Autores principales: Sarkar, Samantha K., Matyas, Angela, Asikhia, Ikhuosho, Hu, Zhenkun, Golder, Mia, Beehler, Kaitlyn, Kosenko, Tanja, Lagace, Thomas A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9515655/
https://www.ncbi.nlm.nih.gov/pubmed/36187800
http://dx.doi.org/10.3389/fphys.2022.960272