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

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...

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Bibliographic Details
Main Authors: Lucie Dušková, Lucie Nohelová, Tomáš Loja, Jana Fialová, Petra Zapletalová, Kamila Réblová, Lukáš Tichý, Tomáš Freiberger, Lenka Fajkusová
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-06-01
Series:Frontiers in Genetics
Subjects:
low density lipoprotein receptor
live cell imaging microscopy
flow cytometry
functional analysis
ER stress
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00691/full

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https://www.frontiersin.org/article/10.3389/fgene.2020.00691/full

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