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Article

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

International journal of molecular sciences - 18 Dec 2021

Uribe Kepa B, Chemello Kevin, Larrea-Sebal Asier, Benito-Vicente Asier, Galicia-Garcia Unai, Bourane Steeve, Jaafar Ali K, Lambert Gilles, Martín César

Abstract excerpt

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 phenotype. Dozens of PCSK9 variants have been reported, but most remain of unknown significance since their...

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Identifiers

PMID: 34948399
DOI: 10.3390/ijms222413602
PMCID: PMC8706470

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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