title: Pharmacological correction of misfolding of ABC proteins.
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.
authors.affiliation: Institute of Medical Chemistry, Medical University of Vienna, Waehringerstrasse 10, Vienna, Austria.
authors.forename: Elena L
authors.initials: EL
authors.lastname: Rudashevskaya
authors.affiliation: Institute of Pharmacology, Medical University of Vienna, Waehringerstrasse 13, Vienna, Austria.
authors.forename: Thomas
authors.initials: T
authors.lastname: Stockner
authors.affiliation: Division of Gastroenterology and Hepatology, Department of Internal Medicine III, Medical University of Vienna, Waehringer Guertel 18-20, Austria.
authors.forename: Michael
authors.initials: M
authors.lastname: Trauner
authors.affiliation: Institute of Pharmacology, Medical University of Vienna, Waehringerstrasse 13, Vienna, Austria.
authors.forename: Michael
authors.initials: M
authors.lastname: Freissmuth
authors.affiliation: Institute of Medical Chemistry, Medical University of Vienna, Waehringerstrasse 10, Vienna, Austria.
authors.forename: Peter
authors.initials: P
authors.lastname: Chiba
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics / Q000378:metabolism*; D000631:Aminopyridines / Q000494:pharmacology / Q000627:therapeutic use; D000818:Animals; D052117:Benzodioxoles / Q000494:pharmacology / Q000627:therapeutic use; D002780:Cholestasis, Intrahepatic / Q000188:drug therapy* / Q000378:metabolism; D002986:Clinical Trials as Topic; D003550:Cystic Fibrosis / Q000188:drug therapy* / Q000378:metabolism; D055808:Drug Discovery; D006801:Humans; D011485:Protein Binding; D017510:Protein Folding; D021381:Protein Transport; D057165:Proteostasis Deficiencies / Q000188:drug therapy* / Q000378:metabolism; D054852:Small Molecule Libraries / Q000494:pharmacology* / Q000627:therapeutic use
chemical_list: D018528:ATP-Binding Cassette Transporters; D000631:Aminopyridines; D052117:Benzodioxoles; D054852:Small Molecule Libraries; C569105:lumacaftor