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

ABSTRACT: 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 particles. We analyzed the functional impact of 10 LDLR variants localized in the beta-propeller of epidermal growth factor precursor homology domain. The experimental part of the work was complemented by a structural analysis on the basis of 3D LDLR protein structure. Methods: T-Rex Chinese hamster ovary cells transfected with the human LDLR gene were used for live cell imaging microscopy, flow cytometry, and qRT-PCR analysis. Results: Our results showed that the analyzed LDLR

SUBMITTER: Duskova L 

PROVIDER: S-EPMC7339958 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature