Effects of LDLR variants rs5928, rs750518671 and rs879254797 on protein structure and functional activity in HepG2 cells transfected with CRISPR/Cas9 constructs.

doi:10.1016/j.gene.2023.147821

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Article

Effects of LDLR variants rs5928, rs750518671 and rs879254797 on protein structure and functional activity in HepG2 cells transfected with CRISPR/Cas9 constructs.

Gene - 10 Jan 2024

Mori Augusto Akira, Malaquias Vanessa Barbosa, Bonjour Kennedy, Ferreira Glaucio Monteiro, Bortolin Raul Hernandes, Borges Jéssica Bassani, Oliveira Victor Fernandes de, Gonçalves Rodrigo Marques, Faludi Andre Arpad, Bastos Gisele Monteiro, Thurow Helena, Sampaio Marcelo Ferraz, Ciconelli Rozana Mesquita, Cury Adriano Namo, Fajardo Cristina Moreno, Hirata Rosario Dominguez Crespo, Hirata Mario Hiroyuki

Abstract excerpt

Familial Hypercholesterolemia (FH) is a genetic disorder associated with premature atherosclerosis and increased risk of cardiovascular diseases. LDLR deleterious mutations are associated with FH, however the role of some missense variants in FH pathogenicity remains to be elucidated. This study explored the predictive impact of LDLR missense variants on protein structure and investigated their functional effects...

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Topics

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Share to CRISPR-Cas Systems

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to FH gene

Share to Hep G2 Cells

Share to Hyperlipoproteinemia Type II

Share to Mutation, Missense

Share to Polymorphism, Single Nucleotide

Share to Receptors, LDL

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Source

Open in PubMed

Identifiers

PMID: 37739193
DOI: 10.1016/j.gene.2023.147821

Genes

LDLR
FH
EGF

Variants

rs879254797
rs28941776
rs750518671
rs5928
rs137853964
rs121908039
rs879254797

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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