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

•LDLR missense variants (p.C184Y, p.G373D, p.G549D, p.V797L, p.R814Q and p.V827I) were identified in FH patients.•· p.C184Y, p.G373D and p.G549D altered protein stability and disturbed LDLR intramolecular interactions.•·p.V797L slightly reduced protein stability and p.R814Q potentially disrupted rec...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Gene 2024-01, Vol.890, p.147821-147821, Article 147821
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	atherosclerosis computer simulation confocal microscopy cost effectiveness CRISPR CRISPR-Cas systems energy Familial hypercholesterolemia flow cytometry Functional analyses gene frequency genes genetic disorders hypercholesterolemia LDLR lipid composition low density lipoprotein cholesterol pathogenicity prediction protein structure risk
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!