Correcting the cystic fibrosis disease mutant, A455E CFTR

PLoS ONE

Volumn 9, Issue 1, 2014, Pages

  Cebotaru, Liudmila ^a   Rapino, Daniele ^a   Cebotaru, Valeriu ^a   Guggino, William B ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; BORTEZOMIB; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GLUTAMIC ACID; MUTANT PROTEIN; PROTEASOME; PROTEASOME INHIBITOR;

ANIMAL CELL; ARTICLE; C BANDING; CONTROLLED STUDY; CYSTIC FIBROSIS; DRUG MECHANISM; GENETIC COMPLEMENTATION; GENETIC TRANSFECTION; MUTATION; MUTATIONAL ANALYSIS; NONHUMAN; PROTEIN BINDING; PROTEIN DEGRADATION;

ANILIDES; ANIMALS; BORONIC ACIDS; CERCOPITHECUS AETHIOPS; COS CELLS; CYCLOHEXIMIDE; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENE EXPRESSION; GENETIC COMPLEMENTATION TEST; HALF-LIFE; HUMANS; HYDROXAMIC ACIDS; LEUPEPTINS; MUTATION; PLASMIDS; PROTEASOME ENDOPEPTIDASE COMPLEX; PROTEASOME INHIBITORS; PROTEOLYSIS; PYRAZINES; SMALL MOLECULE LIBRARIES; TRANSFECTION;

EID: 84896913799     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0085183     Document Type: Article

References (31)

1. Welsh MJ, Smith AE (1993) Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 73: 1251-1254. (Pubitemid 23201140)
2. Rommens JM, Iannuzzi MC, Kerem B-S, Drumm ML, Melmer G, et al. (1989) Identification of the cystic fibrosis gene: Chromosome walking and jumping. Science 245: 1059-1065. (Pubitemid 19231813)
3. Rosenstein BJ, Cutting GR (1998) The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. J Pediatr 132: 589-595. (Pubitemid 28194575)
4. Cutting GR (1993) Spectrum of mutations in cystic fibrosis. J Bioenerg Biomembr 25: 7-10.
5. Cheng SH, Gregory RJ, Marshall J, Paul S, Souza DW, et al. (1990) Defective intracellular transport and processing of CFTR is the molecular basis of most of cystic fibrosis. Cell 63: 827-834. (Pubitemid 120035055)
6. Mickle JE, Cutting GR (2000) Genotype-phenotype relationships in cystic fibrosis. Med Clin North Am 84: 597-607. (Pubitemid 30346155)
7. Van GF, Hadida S, Grootenhuis PD, Burton B, Cao D, et al. (2009) Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770. Proc Natl Acad Sci U S A 106: 18825-18830. 0904709106 [pii];10.1073/pnas. 0904709106 [doi].
8. Stansberg PM, Noreau D, McGlynn-Steele L, Koultchitski G, Ray PN (1997) PCR-based test for two cystic fibrosis mutations (A455E, 711+1G - >T) common among French Canadians. Clin Chem 43: 1083-1084. (Pubitemid 27247004)
9. De BM, Allard C, Leblanc JP, Simard F, Aubin G (1997) Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation. Hum Genet 101: 208-211. (Pubitemid 28014734)
10. Sheppard DN, Rich DP, Ostedgaard LS, Gregory RJ, Smith AE, et al. (1993) Mutations in CFTR associated with mild-disease-form Cl- channels with altered pore properties. Nature 362: 160-164. 10.1038/362160a0 [doi]. (Pubitemid 23085256)
11. Sheppard DN, Ostedgaard LS, Winter MC, Welsh MJ (1995) Mechanism of dysfunction of two nucleotide binding domain mutations in cystic fibrosis transmembrane conductance regulator that are associated with pancreatic sufficiency. EMBO J 14: 876-883.
12. Fulmer SB, Schwiebert EM, Morales MM, Guggino WB, Cutting GR (1995) Two cystic fibrosis transmembrane conductance regulator mutations have different effects on both pulmonary phenotype and regulation of outwardly rectified chloride currents. Proc Natl Acad Sci U S A 92: 6832-6836.
13. Cebotaru L, Woodward O, Cebotaru V, Guggino WB (2013) Transcomplementation by a truncation mutant of CFTR enhances {triangleup}F508 processing through a biomolecualr interaction. J Biol Chem. M112.420489 [pii];10.1074/jbc.M112.420489 [doi].
14. Cebotaru L, Vij N, Ciobanu I, Wright J, Flotte T, Guggino WB (2008) Cystic fibrosis transmembrane regulator missing the first four transmembrane segments increases wild type and DeltaF508 processing. J Biol Chem 283: 21926-21933.
15. Fischer AC, Smith CI, Cebotaru L, Zhang X, Askin FB, et al. (2007) Expression of a truncated cystic fibrosis transmembrane conductance regulator with an AAV5-pseudotyped vector in primates. Mol Ther 15: 756-763. (Pubitemid 46431996)
16. Cheng J, Moyer BD, Milewski M, Loffing J, Ikeda M, et al. (2002) A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression. J Biol Chem 277: 3520-3529. (Pubitemid 34953222)
17. Sun F, Mi Z, Condliffe SB, Bertrand CA, Gong X, Lu X, et al. (2008) Chaperone displacement from mutant cystic fibrosis transmembrane conductance regulator restores its function in human airway epithelia. FASEB J.
18. Pedemonte N, Lukacs GL, Du K, Caci E, Zegarra-Moran O, et al. (2005) Small-molecule correctors of defective DeltaF508-CFTR cellular processing identified by high-throughput screening. J Clin Invest 115: 2564-2571. (Pubitemid 41266219)
19. Van GF, Straley KS, Cao D, Gonzalez J, Hadida S, et al. (2006) Rescue of DeltaF508-CFTR trafficking and gating in human cystic fibrosis airway primary cultures by small molecules. Am J Physiol Lung Cell Mol Physiol 290: L1117-L1130. 00169.2005 [pii];10.1152/ajplung.00169.2005 [doi].
20. Cormet-Boyaka E, Jablonsky M, Naren AP, Jackson PL, Muccio DD, et al. (2004) Rescuing cystic fibrosis transmembrane conductance regulator (CFTR)-processing mutants by transcomplementation. Proc Natl Acad Sci U S A 101: 8221-8226. (Pubitemid 38698081)
21. Mendoza JL, Schmidt A, Li Q, Nuvaga E, Barrett T, et al. (2012) Requirements for efficient correction of DeltaF508 CFTR revealed by analyses of evolved sequences. Cell 148: 164-174. S0092-8674(11)01367-5 [pii];10.1016/j. cell.2011.11.023 [doi].
22. Du K, Sharma M, Lukacs GL (2005) The DeltaF508 cystic fibrosis mutation impairs domain-domain interactions and arrests post-translational folding of CFTR. Nat Struct Mol Biol 12: 17-25. (Pubitemid 40082912)
23. He L, Aleksandrov LA, Cui L, Jensen TJ, Nesbitt KL, et al. (2010) Restoration of domain folding and interdomain assembly by second-site suppressors of the DeltaF508 mutation in CFTR. FASEB J 24: 3103-3112. fj.09-141788 [pii];10.1096/fj.09-141788 [doi].
24. Lewis HA, Buchanan SG, Burley SK, Conners K, Dickey et al. (2004) Structure of nucleotide-binding domain 1 of the cystic fibrosis transmembrane conductance regulator. EMBO J 23: 282-293. (Pubitemid 38294493)
25. Schwiebert EM, Benos DJ, Egan ME, Stutts MJ, Guggino WB (1999) CFTR is a conductance regulator as well as a chloride channel. Physiol Rev 79: S145-S166. (Pubitemid 29058912)
26. Van Oene M, Lukacs GL, Rommens JM (2000) Cystic fibrosis mutations lead to carboxyl-terminal fragments that highlight an early biogenesis step of the cystic fibrosis transmembrane conductance regulator. Journal of Biological Chemistry 275: 19577-19584. (Pubitemid 30441551)
27. Atwell S, Brouillette CG, Conners K, Emtage S, Gheyi T, et al. (2010) Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant. Protein Eng Des Sel 23: 375-384. gzq004 [pii];10.1093/protein/gzq004 [doi].
28. Kim SJ, Skach WR (2012) Mechanisms of CFTR Folding at the Endoplasmic Reticulum. Front Pharmacol 3: 201. 10.3389/fphar.2012.00201 [doi].
29. Boucher RC (1996) Current status of CF gene therapy. Trends Genet 12: 81-84.
30. Pedemonte N, Sonawane ND, Taddei A, Hu J, Zegarra-Moran O, et al. (2005) Phenylglycine and sulfonamide correctors of defective delta F508 and G551D cystic fibrosis transmembrane conductance regulator chloride-channel gating. Mol Pharmacol 67: 1797-1807. (Pubitemid 40594181)
31. Clancy JP, Rowe SM, Accurso FJ, Aitken ML, Amin RS, et al. (2012) Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation. Thorax 67: 12-18. thoraxjnl-2011-200393 [pii];10.1136/thoraxjnl-2011-200393 [doi].