Low Density Lipoprotein Receptor Variants in the Beta-Propeller Subdomain and Their Functional Impact

Background: Pathogenic variants in the low density lipoprotein receptor gene are associated with familial hypercholesterolemia. Some of these variants can result in incorrect folding of the LDLR protein, which is then accumulated inside the cell and cannot fulfill its function to internalize LDL par...

Full description

Saved in:
Bibliographic Details
Published in:Front Genet
Main Authors: Dušková, Lucie, Nohelová, Lucie, Loja, Tomáš, Fialová, Jana, Zapletalová, Petra, Réblová, Kamila, Tichý, Lukáš, Freiberger, Tomáš, Fajkusová, Lenka
Format: Artigo
Language:Inglês
Published: Frontiers Media S.A. 2020
Subjects:
Genetics
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7339958/
https://ncbi.nlm.nih.gov/pubmed/32695144
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.00691
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items