[HTML][HTML] Relationship between brain metabolic disorders and cognitive impairment: LDL receptor defect

DY Hong, DH Lee, JY Lee, EC Lee, SW Park… - International Journal of …, 2022 - mdpi.com
The low-density-lipoprotein receptor (LDLr) removes low-density lipoprotein (LDL), an
endovascular transporter that carries cholesterol from the bloodstream to peripheral tissues …

Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification

J Ryu, S Barkal, T Yu, M Jankowiak, Y Zhou… - Nature …, 2024 - nature.com
CRISPR base editing screens enable analysis of disease-associated variants at scale;
however, variable efficiency and precision confounds the assessment of variant-induced …

Research on hepatocyte regulation of PCSK9-LDLR and its related drug targets

S Liu, T Yu, Y Qiao, S Gu, X Chai - Chinese Journal of Integrative …, 2024 - Springer
The prevalence of hyperlipidemia has increased significantly due to genetic, dietary,
nutritional and pharmacological factors, and has become one of the most common …

Cellular and functional evaluation of LDLR missense variants reported in hypercholesterolemic patients demonstrates their hypomorphic impacts on trafficking and …

AA Jawabri, A John, MA Ghattas… - Frontiers in Cell and …, 2024 - frontiersin.org
Background Familial hypercholesterolemia (FH) is an autosomal dominant disorder
characterized by increased LDL-cholesterol levels. About 85% of FH cases are caused by …

Identification of an LDLR variant in a Chinese familial hypercholesterolemia and its relation to ROS/NLRP3-Mediated pyroptosis in hepatic cells

WZ Cheng, W Wei-Hua, D Ai-**… - Journal of Geriatric …, 2023 - pmc.ncbi.nlm.nih.gov
BACKGROUND Familial hypercholesterolemia (FH) is a common autosomal dominant
hereditary disease. Its early diagnosis and intervention significantly improve the patient's …

iPSC-Derived Endothelial Cells Reveal LDLR Dysfunction and Dysregulated Gene Expression Profiles in Familial Hypercholesterolemia

IS Zakharova, AI Shevchenko, MA Arssan… - International Journal of …, 2024 - mdpi.com
Defects in the low-density lipoprotein receptor (LDLR) are associated with familial
hypercholesterolemia (FH), manifested by atherosclerosis and cardiovascular disease …

Small extracellular vesicles containing LDLRQ722* protein reconstructed the lipid metabolism via heparan sulphate proteoglycans and clathrin‐mediated endocytosis

Y Zhou, Q **e, S Pan, J Wu, X Wang… - Clinical and …, 2022 - pmc.ncbi.nlm.nih.gov
Dear Editor, Familial hypercholesterolemia (FH) is a severe inherited lipid metabolism
dysfunction, characterised by hightotal and low-density lipoprotein (LDL) cholesterol levels …