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Pharmacological correction of misfolding of ABC proteins
Elena L Rudashevskaya1, Thomas Stockner2, Michael Trauner3
1Institute of Medical Chemistry, Medical University of Vienna, Waehringerstrasse 10, Vienna, Austria.
Abstract:
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.
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