Abstract
The low-density lipoprotein (LDL) receptor plays a major role in the maintenance of normal LDL level in humans (1). Mutations in the LDL receptor gene result in Familial Hypercholesterolemia (FH), an autosomal dominant disorder characterized by elevated levels of plasma LDL (1). The LDL receptor is normally synthesized in the endoplasmic reticulum (ER) as a precursor of 120,000 daltons that contains immature N- and 0-linked oligosaccharides. During synthesis, an amino-terminal signal sequence is cleaved from receptor. Maturation of the oligosaccharides in the Golgi complex generates the mature form of the receptor with a molecular weight of 160,000. The receptors are then transported to the cell surface, where they cluster in coated pits and can bind LDL. By receptor-mediated endocytosis, the bound LDL is internalized as the coated pits invaginate to form coated vesicles. The receptor and ligand are then transported to endosomes, where they dissociate. The LDL is eventually transported to lysosomes where it is degraded. In contrast, the receptor returns to the cell surface to repeat the cycle (1).
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Lehrman, M.A., Hobbs, H.H., Brown, M.S., Goldstein, J.L., Russell, D.W. (1987). LDL Receptor Mutations in Patients with Familial Hypercholesterolemia. In: Schettler, G. (eds) Molecular Biology of the Arterial Wall. Veröffentlichungen aus der Geomedizinischen Forschungsstelle der Heidelberger Akademie der Wissenschaften, vol 1987/88 / 1987/4. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-83118-8_1
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