lumacaftor and Cholestasis--Intrahepatic

The endoplasmic reticulum (ER) quality control system distinguishes between correctly and incorrectly folded proteins to prevent processing of aberrantly folded conformations along the secretory pathway. Non-synonymous mutations can lead to misfolding of ABC proteins and associated disease phenotypes. Specific phenotypes may at least partially be corrected by small molecules, so-called pharmacological chaperones. Screening for folding correctors is expected to open an avenue for treatment of diseases such as cystic fibrosis and intrahepatic cholestasis.

Topics: Aminopyridines; Animals; ATP-Binding Cassette Transporters; Benzodioxoles; Cholestasis, Intrahepatic; Clinical Trials as Topic; Cystic Fibrosis; Drug Discovery; Humans; Protein Binding; Protein Folding; Protein Transport; Proteostasis Deficiencies; Small Molecule Libraries