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. © 2014 The Authors.
Rudashevskaya, E. L., Stockner, T., Trauner, M., Freissmuth, M., & Chiba, P. (2014). Pharmacological correction of misfolding of ABC proteins. Drug Discovery Today: Technologies. Elsevier Ltd. https://doi.org/10.1016/j.ddtec.2014.03.009