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

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 o...

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Detalhes bibliográficos
Autores: Uribe, Kepa B., Chemello, Kevin, Larrea, Asier, Benito-Vicente, Asier, Galicia-García, Unai, Bourane, Steeve, Jaafar, Ali K., Lambert, Gilles, Martín, César
Tipo de documento: artigo
Estado:Versão publicada
Data de publicação:2021
País:España
Recursos:Consejo Superior de Investigaciones Científicas (CSIC)
Repositório:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/310233
Acesso em linha:http://hdl.handle.net/10261/310233
https://api.elsevier.com/content/abstract/scopus_id/85121292347
Access Level:Acceso aberto
Palavra-chave:LDL
PCSK9
Cholesterol
Dyslipidaemias
Familial hypercholesterolemia
Gain of function
In vitro characterization
Lipoproteins
Loss of function
Receptors
Descrição
Resumo: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 characterization has not been conducted.

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