The chemical chaperone CFcor-325 repairs folding defects in the transmembrane domains of CFTR-processing mutants

Biochemical Journal

Volumn 395, Issue 3, 2006, Pages 537-542

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

^a UNIVERSITY OF TORONTO   (Canada)

Author keywords

Chemical chaperone; Cystic fibrosis transmembrane conductance regulator (CFTR); Disulphide cross linking; Misprocessed mutant; Transmembrane domain; Transmembrane segment packing

Indexed keywords

AMINO ACIDS; BIOCHEMICAL ENGINEERING; BIOCHEMISTRY; CELLS; CHEMICAL BONDS; CROSSLINKING; CYTOLOGY; DISEASES; PATIENT MONITORING;

CHEMICAL CHAPERONE; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR); DISULPHIDE CROSS-LINKING; MISPROCESSED MUTANT; TRANSMEMBRANE DOMAIN; TRANSMEMBRANE SEGMENT PACKING;

MUTAGENESIS;

4 CYCLOHEXYLOXY 2 [1 [4 (4 METHOXY BENZENE SULPHONYL)PIPERAZIN 1 YL]ETHYL]QUINAZOLINE; CHAPERONE; CYSTEINE; MUTANT PROTEIN; TRANSMEMBRANE CONDUCTANCE REGULATOR; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; CELL SURFACE; CONTROLLED STUDY; CROSS LINKING; CYTOPLASM; ENDOPLASMIC RETICULUM; HUMAN; HUMAN CELL; MUTANT; MUTATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN DEFECT; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FOLDING; WILD TYPE;

ANIMALS; CELL LINE; CELL MEMBRANE; CRICETINAE; CYCLIC AMP; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CYTOPLASM; DISULFIDES; GLYCOSIDE HYDROLASES; HUMANS; IODINE; MUTATION; PROTEIN FOLDING; PROTEIN STRUCTURE, TERTIARY; QUINAZOLINES;

EID: 33645530653     PISSN: 02646021     EISSN: None     Source Type: Journal    
DOI: 10.1042/BJ20060013     Document Type: Article

References (26)

1. Riordan, J. R., Rommens, J. M., Kerem, B., Alon, N., Rozmahel, R., Grzelczak, Z., Zielenski, J., Lok, S., Plavsic, N., Chou, J. L. et al. (1989) Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245, 1066-1073
2. 1a Riordan, J. R., Rommens, J. M., Kerem, B., Alon, N., Rozmahel, R., Grzelczak, Z., Zielenski, J., Lok, S., Plavsic, N., Chou, J. L. et al. (1989) Erratum. Science 245, 1437
3. Seibert, F. S., Linsdell, P., Loo, T. W., Hanrahan, J. W., Clarke, D. M. and Riordan, J. R. (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
4. Ward, C. L., Omura, S. and Kopito, R. R. (1995) Degradation of CFTR by the ubiquitin-proteasome pathway. Cell 83, 121-127
5. Denning, G. M., Anderson, M. P., Amara, J. F., Marshall, J., Smith, A. E. and Welsh, M. J. (1992) Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive. Nature (London) 358, 761-764
6. Sato, S., Ward, C. L., Krouse, M. E., Wine, J. J. and Kopito, R. R. (1996) Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation. J. Biol. Chem. 271, 635-638
7. Brown, C. R., Hong-Brown, L. Q., Biwersi, J., Verkman, A. S. and Welch, W. J. (1996) Chemical chaperones correct the mutant phenotype of the ΔF508 cystic fibrosis transmembrane conductance regulator protein. Cell Stress Chaperones 1, 117-125
8. Loo, T. W. and Clarke, D. M. (1997) Correction of defective protein kinesis of human P-glycoprotein mutants by substrates and modulators. J. Biol. Chem. 272, 709-712
9. Loo, T. W., Bartlett, M. C. and Clarke, D. M. (2005) Rescue of ΔF508 and other misprocessed CFTR mutants by a novel quinazoline compound. Mol. Pharm. 2, 407-413
10. Egan, M. E., Pearson, M., Weiner, S. A., Rajendran, V., Rubin, D., Glockner-Pagel, J., Canny, S., Du, K., Lukacs, G. L. and Caplan, M. J. (2004) Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects. Science 304, 600-602
11. Chen, E. Y., Bartlett, M. C., Loo, T. W. and Clarke, D. M. (2004) The ΔF508 mutation disrupts packing of the transmembrane segments of the cystic fibrosis transmembrane conductance regulator. J. Biol. Chem. 279, 39620-39627
12. Loo, T. W. and Clarke, D. M. (1994) Functional consequences of glycine mutations in the predicted cytoplasmic loops of P-glycoprotein. J. Biol. Chem. 269, 7243-7248
13. Loo, T. W. and Clarke, D. M. (1994) Mutations to amino acids located in predicted transmembrane segment 6 (TM6) modulate the activity and substrate specificity of human P-glycoprotein. Biochemistry 33, 14049-14057
14. Loo, T. W. and Clarke, D. M. (1994) Prolonged association of temperature-sensitive mutants of human P-glycoprotein with calnexin during biogenesis. J. Biol. Chem. 269, 28683-28689
15. Loo, T. W. and Clarke, D. M. (1999) 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
16. Brandl, C. J. and Deber, C. M. (1986) Hypothesis about the function of membrane-buried proline residues in transport proteins. Proc. Natl. Acad. Sci. U.S.A. 83, 917-921
17. Loo, T. W., Bartlett, M. C. and Clarke, D. M. (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
18. Gupta, J., Evagelidis, A., Hanrahan, J. W. and Linsdell, P. (2001) Asymmetric structure of the cystic fibrosis transmembrane conductance regulator chloride channel pore suggested by mutagenesis of the twelfth transmembrane region. Biochemistry 40, 6620-6627
19. Chen, E. Y., Bartlett, M. C. and Clarke, D. M. (2000) Cystic fibrosis transmembrane conductance regulator has an altered structure when its maturation is inhibited. Biochemistry 39, 3797-3803
20. Loo, T. W. and Clarke, D. M. (1999) The human multidrug resistance P-glycoprotein is inactive when its maturation is inhibited: potential for a role in cancer chemotherapy. FASEB J. 13, 1724-1732
21. Loo, T. W., Bartlett, M. C. and Clarke, D. M. (2004) Processing mutations located throughout the human multidrug resistance P-glycoprotein disrupt interactions between the nucleotide binding domains. J. Biol. Chem. 279, 38395-38401
22. Loo, T. W. and Clarke, D. M. (1998) Superfolding of the partially unfolded core-glycosylated intermediate of human P-glycoprotein into the mature enzyme is promoted by substrate-induced transmembrane domain interactions. J. Biol. Chem. 273, 14671-14674
23. Rich, D. P., Gregory, R. J., Anderson, M. P., Manavalan, P., Smith, A. E. and Welsh, M. J. (1991) Effect of deleting the R domain on CFTR-generated chloride channels. Science 253, 205-207
24. Lukacs, G. L., Mohamed, A., Kartner, N., Chang, X. B., Riordan, J. R. and Grinstein, S. (1994) Conformational maturation of CFTR but not its mutant counterpart (ΔF508) occurs in the endoplasmic reticulum and requires ATP. EMBO J. 13, 6076-6086
25. Tector, M. and Hartl, F. U. (1999) An unstable transmembrane segment in the cystic fibrosis transmembrane conductance regulator. EMBO J. 18, 6290-6298
26. Sadlish, H. and Skach, W. R. (2004) Biogenesis of CFTR and other polytopic membrane proteins: new roles for the ribosome-translocon complex. J. Membr. Biol. 202, 115-126