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Classification And Effect Of Correctors On Sitosterolemia-Associated Mutants In Abcg8, Brittney Poole
Classification And Effect Of Correctors On Sitosterolemia-Associated Mutants In Abcg8, Brittney Poole
Theses and Dissertations--Medical Sciences
Objective: To classify mutants of ABCG8 identified in subjects with clinically confirmed Sitosterolemia, a rare form of Familial Hypercholesterolemia distinguished by the accumulation of phytosterols in plasma and tissues and determine the effects of correctors and/or regulators of proteostasis on maturation of the ABCG5/ABCG8 sterol transporter.
Methods: Disease-causing missense mutants within the cytosolic domain of ABCG8 were generated through site-directed mutagenesis. Normal and mutant proteins were expressed in human hepatocytes. Cellular proteins were prepared, and maturation was assessed by SDS-PAGE and immunoblotting. Formation of the higher molecular weight, mature form of glycoproteins was used as a bioassay for trafficking the …