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.
Publication types
-
Research Support, Non-U.S. Gov't
-
Review
MeSH terms
-
ATP-Binding Cassette Transporters / genetics
-
ATP-Binding Cassette Transporters / metabolism*
-
Aminopyridines / pharmacology
-
Aminopyridines / therapeutic use
-
Animals
-
Benzodioxoles / pharmacology
-
Benzodioxoles / therapeutic use
-
Cholestasis, Intrahepatic / drug therapy*
-
Cholestasis, Intrahepatic / metabolism
-
Clinical Trials as Topic
-
Cystic Fibrosis / drug therapy*
-
Cystic Fibrosis / metabolism
-
Drug Discovery
-
Humans
-
Protein Binding
-
Protein Folding
-
Protein Transport
-
Proteostasis Deficiencies / drug therapy*
-
Proteostasis Deficiencies / metabolism
-
Small Molecule Libraries / pharmacology*
-
Small Molecule Libraries / therapeutic use
Substances
-
ATP-Binding Cassette Transporters
-
Aminopyridines
-
Benzodioxoles
-
Small Molecule Libraries
-
lumacaftor