Cellular and Functional Evaluation of LDLR Missense Variants Reported in Hypercholesterolemic Patients Demonstrates Their Hypomorphic Impacts on Trafficking and LDL Internalization
Frontiers in Cell and Developmental Biology（2024）
关键词
familial hypercholesterolemia (FH),low-density lipoprotein receptor (LDLR),low-density lipoprotein (LDL),receptor-mediated endocytosis,protein quality control,ER stress,ER associated protein degradation (ERAD)
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