Modulating the folding of P-glycoprotein and cystic fibrosis transmembrane conductance regulator truncation mutants with pharmacological chaperones

Molecular Pharmacology

Volumn 71, Issue 3, 2007, Pages 751-758

  Wang, Ying ^a   Loo, Tip W ^a   Bartlett, M Claire ^a   Clarke, David M ^a  

^a UNIVERSITY OF TORONTO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

4 METHYL 2 (5 PHENYL 1H PYRAZOL 3 YL)PHENOL; ABC TRANSPORTER; CHAPERONE; GLYCOPROTEIN P; GLYCOSIDASE; NUCLEOTIDE BINDING PROTEIN; PHENYLALANINE; PYRAZOLE DERIVATIVE; TRANSMEMBRANE CONDUCTANCE REGULATOR; UNCLASSIFIED DRUG;

ARTICLE; CELL STRAIN HEK293; CONTROLLED STUDY; CYSTIC FIBROSIS; DIMERIZATION; DRUG MECHANISM; DRUG PROTEIN BINDING; EMBRYO; GLYCOSYLATION; HUMAN; HUMAN CELL; PRIORITY JOURNAL; PROTEIN FOLDING; SENSITIVITY ANALYSIS;

BINDING SITES; CELLS, CULTURED; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GLYCOSYLATION; HUMANS; MOLECULAR CHAPERONES; MUTATION; P-GLYCOPROTEIN; PIPERAZINES; PROTEIN FOLDING; PROTEIN STRUCTURE, TERTIARY; QUINAZOLINES;

EID: 33847122608     PISSN: 0026895X     EISSN: 15210111     Source Type: Journal    
DOI: 10.1124/mol.106.029926     Document Type: Article

References (40)

1. Bobadilla JL, Macek M Jr, Fine JP, and Farrell PM (2002) Cystic fibrosis: a worldwide analysis of CFTR mutations-correlation with incidence data and application to screening. Hum Mutat 19:575-606.
2. Carveth K, Buck T, Anthony V, and Skach WR (2002) Cooperativity and flexibility of cystic fibrosis transmembrane conductance regulator transmembrane segments participate in membrane localization of a charged residue. J Biol Chem 277: 39507-39514.
3. Chan KW, Csanady L, Nairn AC, and Gadsby DC (1999) Deletion analysis of CFTR channel R domain using severed molecules. Biophys J 76:A405.
4. Chen EY, Bartlett MC, and Clarke DM (2000) Cystic fibrosis transmembrane conductance regulator has an altered structure when its maturation is inhibited. Biochemistry 39:3797-3803.
5. Chen EY, Bartlett MC, Loo TW, and Clarke DM (2004) The ΔF508 mutation disrupts packing of the transmembrane segments of the cystic fibrosis transmembrane conductance regulator. J Biol Chem 279:39620-39627.
6. Cheng SH, Gregory RJ, Marshall J, Paul S, Souza DW, White GA, O'Riordan CR, and Smith AE (1990) Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 63:827-834.
7. Cormet-Boyaka E, Jablonsky M, Naren AP, Jackson PL, Muccio DD, and Kirk KL (2004) Rescuing cystic fibrosis transmembrane conductance regulator (CFTR)-processing mutants by transcomplementation. Proc Natl Acad Sci USA 101:8221-8226.
8. Cotten JF and Welsh MJ (1999) Cystic fibrosis-associated mutations at arginine 347 alter the pore architecture of CFTR. Evidence for disruption of a salt bridge. J Biol Chem 274:5429-5435.
9. Dormer RL, Derand R, McNeilly CM, Mettey Y, Bulteau-Pignoux L, Metaye T, Vierfond JM, Gray MA, Galietta LJ, Morris MR, et al. (2001) Correction of delF508-CFTR activity with benzo. (c) quinolizinium compounds through facilitation of its processing in cystic fibrosis airway cells. J Cell Sci 114:4073-4081.
10. Du K, Sharma M, and Lukacs GL (2005) The ΔF508 cystic fibrosis mutation impairs domain-domain interactions and arrests post-translational folding of CFTR. Nat Struct Mol Biol 12:17-25.
11. Egan ME, Pearson M, Weiner SA, Rajendran V, Rubin D, Glockner-Pagel J, Canny S, Du K, Lukacs GL, and Caplan MJ (2004) Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects. Science (Wash DC) 304:600-602.
12. Gentzsch M and Riordan JR (2001) Localization of sequences within the C-terminal domain of the cystic fibrosis transmembrane conductance regulator which impact maturation and stability. J Biol Chem 276:1291-1298.
13. Hoof T, Demmer A, Hadam MR, Riordan JR, and Tummler B (1994) Cystic fibrosis-type mutational analysis in the ATP-binding cassette transporter signature of human P-glycoprotein MDR1. J Biol Chem 269:20575- 20583.
14. Lewis HA, Zhao X, Wang C, Sauder JM, Rooney I, Noland BW, Lorimer D, Kearins MC, Conners K, Condon B, et al. (2005) Impact of the ΔF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure. J Biol Chem 280:1346-1353.
15. Loo TW, Bartlett MC, and Clarke DM (2002) Introduction of the most common cystic fibrosis mutation (ΔF508) into human P-glycoprotein disrupts packing of the transmembrane segments. J Biol Chem 277:27585- 27588.
16. Loo TW, Bartlett MC, and Clarke DM (2005) Rescue of ΔF508 and other misprocessed CFTR mutants by a novel quinazoline compound. Mol Pharm 2:407-413.
17. Loo TW, Bartlett MC, and Clarke DM (2006a) Transmembrane segment 1 of human P-glycoprotein contributes to the drug binding pocket. Biochem J 396:537-545.
18. Loo TW, Bartlett MC, and Clarke DM (2006b) Transmembrane segment 7 of human P-glycoprotein forms part of the drug-binding pocket. Biochem J 399:351-359.
19. Loo TW, Bartlett MC, Wang Y, and Clarke DM (2006c) The chemical chaperone CFcor-325 repairs folding defects in the transmembrane domains of CFTR processing mutants. Biochem J 395:537-542.
20. Loo TW and Clarke DM (1995) P-glycoprotein. Associations between domains and between domains and molecular chaperones. J Biol Chem 270:21839-21844.
21. Loo TW and Clarke DM (1997) Correction of defective protein kinesis of human P-glycoprotein mutants by substrates and modulators. J Biol Chem 272:709-712.
22. Loo TW and Clarke DM (1999a) The glycosylation and orientation in the membrane of the third cytoplasmic loop of human P-glycoprotein is affected by mutations and substrates. Biochemistry 38:5124-5129.
23. Loo TW and Clarke DM (1999b) The transmembrane domains of the human multidrug resistance P-glycoprotein are sufficient to mediate drug binding and trafficking to the cell surface. J Biol Chem 274:24759-24765.
24. Loo TW and Clarke DM (2001) Defining the drug-binding site in the human multidrug resistance P-glycoprotein using MTS-verapamil. J Biol Chem 276:14972-14979.
25. Nilsson IM and von Heijne G (1993) Determination of the distance between the oligosaccharyltransferase active site and the endoplasmic reticulum membrane. J Biol Chem 268:5798-5801.
26. 2+ level in the endoplasmic reticulum restores abnormal endogenous F508del-CFTR trafficking in airway epithelial cells. Traffic 7:562-573.
27. Norez C, Noel S, Wilke M, Bijvelds M, Jorna H, Melin P, DeJonge H, and Becq F (2006b) Rescue of functional delF508-CFTR channels in cystic fibrosis epithelial cells by the alpha-glucosidase inhibitor miglustat. FEBS Lett 580:2081-2086.
28. Pedemonte N, Lukacs GL, Du K, Caci E, Zegarra-Moran O, Galietta LJ, and Verkman AS (2005) Small-molecule correctors of defective ΔF508-CFTR cellular processing identified by high-throughput screening. J Clin Investig 115:2564-2571.
29. Pollet JF, Van Geffel J, Van Stevens E, Van Geffel R, Beauwens R, Bollen A, and Jacobs P (2000) Expression and intracellular processing of chimeric and mutant CFTR molecules. Biochim Biophys Acta 1500:59-69.
30. Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, et al. (1989) Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science (Wash DC) 245: 1066-1073.
31. Sadlish H and Skach WR (2004) Biogenesis of CFTR and other polytopic membrane proteins: new roles for the ribosome-translocon complex. J Membr Biol 202:115-126.
32. Seibert FS, Linsdell P, Loo TW, Hanrahan JW, Clarke DM, and Riordan JR (1996) Disease-associated mutations in the fourth cytoplasmic loop of cystic fibrosis transmembrane conductance regulator compromise biosynthetic processing and chloride channel activity. J Biol Chem 271:15139-15145.
33. Skach WR, Calayag MC, and Lingappa VR (1993) Evidence for an alternate model of human P-glycoprotein structure and biogenesis. J Biol Chem 268:6903-6908.
34. Smith PC, Karpowich N, Millen L, Moody JE, Rosen J, Thomas PJ, and Hunt JF (2002) ATP binding to the motor domain from an ABC transporter drives formation of a nucleotide sandwich dimer. Mol Cell 10:139-149.
35. Tector M and Hartl FU (1999) An unstable transmembrane segment in the cystic fibrosis transmembrane conductance regulator. EMBO (Eur Mol Biol Organ) J 18:6290-6298.
36. Van Goor F, Straley KS, Cao D, Gonzalez J, Hadida S, Hazlewood A, Joubran J, Knapp T, Makings LR, Miller M, et al. (2006) Rescue of ΔF508 CFTR trafficking and gating in human cystic fibrosis airway primary cultures by small molecules. Am J Physiol 290:L1117-L1130.
37. Wang X, Matteson J, An Y, Moyer B, Yoo JS, Bannykh S, Wilson IA, Riordan JR, and Balch WE (2004) COPII-dependent export of cystic fibrosis transmembrane conductance regulator from the ER uses a di-acidic exit code. J Cell Biol 167:65-74.
38. Wang Y, Bartlett MC, Loo TW, and Clarke DM (2006) Specific rescue of cystic fibrosis transmembrane conductance regulator processing mutants using pharmacological chaperones. Mol Pharmacol 70:297-302.
39. Zerhusen B and Ma J (1999) Function of the second nucleotide-binding fold in the CFTR chloride channel. FEBS Lett 459:177-185.
40. Zhang JT and Ling V (1991) Study of membrane orientation and glycosylated extracellular loops of mouse P-glycoprotein by in vitro translation. J Biol Chem 266:18224-18232.