A Systematic Approach to Assess the Activity and Classification of PCSK9 Variants

A Systematic Approach to Assess the Activity and Classification of PCSK9 Variants

Background: Gain of function (GOF) mutations of PCSK9 cause autosomal dominant familial hypercholesterolemia as they reduce the abundance of LDL receptor (LDLR) more efficiently than wild-type PCSK9. In contrast, PCSK9 loss of function (LOF) variants are associated with a hypocholesterolemic phenoty...

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Bibliographic Details
Main Authors: Kepa B. Uribe, Kevin Chemello, Asier Larrea-Sebal, Asier Benito-Vicente, Unai Galicia-Garcia, Steeve Bourane, Ali K. Jaafar, Gilles Lambert, César Martín
Format: Article
Language:English
Published: MDPI AG 2021-12-01
Series:International Journal of Molecular Sciences
Subjects:
PCSK9
LDL
cholesterol
dyslipidaemias
lipoproteins
receptors
Online Access:https://www.mdpi.com/1422-0067/22/24/13602

Internet

https://www.mdpi.com/1422-0067/22/24/13602

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