Christian Hulen

Impact of ATP8B1 Mutation and Maturation on CFTR Functionality and Gene Expression

Background/Objectives: Progressive familial intrahepatic cholestasis type 1 (PFIC1) is a rare autosomal recessive liver disorder caused by mutations in the ATP8B1 gene, leading to defective bile acid secretion and severe clinical outcomes. A milder, episodic form of the disease,...