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- Surendra Marasini (0000-0001-7645-5413) - ORCID
Proprotein Convertase Subtilisn kexin Type 9 (PCSK9) Gene Mutation in Hypercholesterolemic Nepalese Subjects Grant University Grant Commission, Nepal (Bhaktapur, NP) Show more detail
- PCSK9 and Lipid Metabolism: Genetic Variants, Current . . . - Springer
Genetic studies have clearly demonstrated that PCSK9 is a major determinant of cholesterol homeostasis, and several GOF and LOF PCSK9 mutations have been described, highlighting a key role for PCSK9 in regulating lipid metabolism
- (PDF) Proprotein convertase Subtilisin Kexin type 9 (PCSK9) gene . . .
The study is aimed to determine the PCSK9 gene polymorphism in hypercholesterolemic Nepalese based on EarI cut site Materials and methods: Fifty hypercholesterolemic and fifty eucholesterolemic patients were selected for this hospital-based case-control research
- Frontiers | Pathogenic gain-of-function mutations in the prodomain and . . .
Herein, we identify additional GOF mutations that inhibit LDL association, localized either within CM1 or a surface-exposed region in the PCSK9 prodomain Notably, LDL binding was nearly abolished by a prodomain S127R GOF mutation, one of the first PCSK9 mutations identified in FH patients
- Proprotein Convertase Subtilisin Kexin Type 9 Gene Variants in . . . - MDPI
This systematic analysis provided scientific evidence to suggest the mutation of PCSK9 was related to the metabolism of lipoprotein and atherosclerotic cardiovascular disease
- Mutations and polymorphisms in the proprotein convertase subtilisin . . .
Our discovery in 2003 of the first mutations of the proprotein convertase subtilisin kexin 9 gene (PCSK9) causing ADH shed light on an unknown actor in cholesterol metabolism that since then has been extensively investigated
- PCSK9: from molecular biology to clinical applications
PCSK9 mutations which cause a significant change in LDL-C concentrations can be divided into two groups, those which potentiate PCSK9 activity (‘gain of func-tion’ mutations) and those which depress PCSK9 activ-ity (‘LOF’ mutations)
- Proprotein Convertase Subtilisin Kexin Type 9 (PCSK9): Lessons Learned . . .
Identification of the proprotein convertase subtilisin kexin type 9 (PCSK9) as the third gene causing familial hypercholesterolemia (FH) and understanding its complex biology has led to the discovery of a novel class of therapeutic agents
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