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Effects of PCSK9 missense variants on molecular conformation and biological activity in transfected HEK293FT cells

Los, Bruna; Ferreira, Glaucio Monteiro; Borges, Jéssica Bassani; Kronenberger, Thales; Oliveira, Victor Fernandes de; Dagli-Hernandez, Carolina; Bortolin, Raul Hernandes; Gonçalves, Rodrigo Marques; Faludi, Andre Arpad; Mori, Augusto Akira; Barbosa, Thais Kristini Almendros; Freitas, Renata Caroline Costa de; Jannes, Cinthia Elim; Pereira, Alexandre da Costa; Bastos, Gisele Medeiros; Poso, Antti; Hirata, Rosario Dominguez Crespo; Hirata, Mario Hiroyuki.
Gene; 851 (146979), 2022
ABSTRACT: PCSK9 gain-of-function (GOF) variants increase degradation of low-density lipoprotein receptor (LDLR) and are potentially associated with Familial Hypercholesterolemia (FH). This study aimed to explore the effects of PCSK9 missense variants on protein structure and interactions with LDLR using ...
Mutação de Sentido Incorreto, Conformação Molecular, Hiperlipoproteinemia Tipo II, Pró-Proteína Convertase 9, LDL-Colesterol/genética, LDL-Colesterol/metabolismo