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Volumn 2, Issue 7, 1996, Pages 290-297

Understanding how cystic fibrosis mutations cause a loss of Cl- channel function

Author keywords

[No Author keywords available]

Indexed keywords

CFTR PROTEIN, HUMAN; CHLORIDE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 0030187146     PISSN: 13574310     EISSN: None     Source Type: Journal    
DOI: 10.1016/1357-4310(96)10028-9     Document Type: Review
Times cited : (20)

References (45)
  • 2
    • 0025349031 scopus 로고
    • Cystic fibrosis: A disease in electrolyte transport
    • Quinton, P.M. (1990) Cystic fibrosis: a disease in electrolyte transport, FASEB J. 4, 2709-2717
    • (1990) FASEB J. , vol.4 , pp. 2709-2717
    • Quinton, P.M.1
  • 3
    • 0024424270 scopus 로고
    • Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
    • Riordan. J.R. et al. (1989) Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA, Science 245, 1066-1073
    • (1989) Science , vol.245 , pp. 1066-1073
    • Riordan, J.R.1
  • 4
    • 0025033814 scopus 로고
    • Bacterial periplasmic permeases belong to a family of transport proteins operating from Escherichia coli to human: Traffic ATPases
    • Ames, G.F-L., Mimura, C.S. and Shyamala, V. (1990) Bacterial periplasmic permeases belong to a family of transport proteins operating from Escherichia coli to human: traffic ATPases, FEMS Microbiol. Rev. 75, 429-446
    • (1990) FEMS Microbiol. Rev. , vol.75 , pp. 429-446
    • Ames, G.F.-L.1    Mimura, C.S.2    Shyamala, V.3
  • 5
    • 0025374695 scopus 로고
    • Structural model of ATP-binding proteins associated with cystic fibrosis, multidrug resistance and bacterial transport
    • Hyde, S.C. et al. (1990) Structural model of ATP-binding proteins associated with cystic fibrosis, multidrug resistance and bacterial transport, Nature 346, 362-365
    • (1990) Nature , vol.346 , pp. 362-365
    • Hyde, S.C.1
  • 6
    • 0026734588 scopus 로고
    • Genetic determination of exocrine pancreatic function in cystic fibrosis
    • Kristidis, P. et al. (1992) Genetic determination of exocrine pancreatic function in cystic fibrosis, Am. J. Hum. Genet. 50, 1178-1184
    • (1992) Am. J. Hum. Genet. , vol.50 , pp. 1178-1184
    • Kristidis, P.1
  • 7
    • 0026337305 scopus 로고
    • Chloride conductance expressed by ΔF508 and other mutant CFTRs in Xenopas oocytes
    • Drumm, M.L. et al. (1991) Chloride conductance expressed by ΔF508 and other mutant CFTRs in Xenopas oocytes, Science 254, 1797-1799
    • (1991) Science , vol.254 , pp. 1797-1799
    • Drumm, M.L.1
  • 8
    • 0025242929 scopus 로고
    • Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis
    • Cheng, S.H. et al. (1990) Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis, Cell 63, 827-834
    • (1990) Cell , vol.63 , pp. 827-834
    • Cheng, S.H.1
  • 9
    • 0027408231 scopus 로고
    • - channels with altered pore properties
    • - channels with altered pore properties, Nature 362, 160-164
    • (1993) Nature , vol.362 , pp. 160-164
    • Sheppard, D.N.1
  • 10
    • 0028232167 scopus 로고
    • Participation of the endoplasmic reticulum chaperone calnexin (p88, IP90) in the biogenesis of the cystic fibrosis transmembrane conductance regulator
    • Find, S., Riordan, J.R. and Williams, D.B. (1994) Participation of the endoplasmic reticulum chaperone calnexin (p88, IP90) in the biogenesis of the cystic fibrosis transmembrane conductance regulator, J. Biol. Chem. 269, 12784-12788
    • (1994) J. Biol. Chem. , vol.269 , pp. 12784-12788
    • Find, S.1    Riordan, J.R.2    Williams, D.B.3
  • 11
    • 0027488993 scopus 로고
    • The common variant of cystic fibrosis transmembrane conductance regulator is recognized by hsp70 and degraded in a pre-Golgi nonlysosomal compartment
    • Yang, Y., Janich, S., Cohn, J.A. and Wilson, J.M. (1993) The common variant of cystic fibrosis transmembrane conductance regulator is recognized by hsp70 and degraded in a pre-Golgi nonlysosomal compartment, Proc. Natl. Acad. Sci. U. S. A. 90, 9480-9484
    • (1993) Proc. Natl. Acad. Sci. U. S. A. , vol.90 , pp. 9480-9484
    • Yang, Y.1    Janich, S.2    Cohn, J.A.3    Wilson, J.M.4
  • 12
    • 0028006681 scopus 로고
    • Intracellular turnover of cystic fibrosis transmembrane conductance regulator. Inefficient processing and rapid degradation of wild-type and mutant proteins
    • Ward, C.L. and Kopito, R.R. (1994) Intracellular turnover of cystic fibrosis transmembrane conductance regulator. Inefficient processing and rapid degradation of wild-type and mutant proteins, J. Biol. Chem. 269, 25710-25718
    • (1994) J. Biol. Chem. , vol.269 , pp. 25710-25718
    • Ward, C.L.1    Kopito, R.R.2
  • 13
    • 0028559511 scopus 로고
    • Conformational maturation of CFTR but not its mutant counterpart (ΔF508) occurs in the endoplasmic reticulum and requires ATP
    • Lukacs, G.L. et al. (1994) Conformational maturation of CFTR but not its mutant counterpart (ΔF508) occurs in the endoplasmic reticulum and requires ATP, EMBO J. 13, 6076-6086
    • (1994) EMBO J. , vol.13 , pp. 6076-6086
    • Lukacs, G.L.1
  • 14
    • 0028840915 scopus 로고
    • Degradation of CFTR by the ubiquitin-proteasome pathway
    • Ward, C.L., Omura, S. and Kopito, R.R. (1995) Degradation of CFTR by the ubiquitin-proteasome pathway, Cell 83, 121-127
    • (1995) Cell , vol.83 , pp. 121-127
    • Ward, C.L.1    Omura, S.2    Kopito, R.R.3
  • 15
    • 0028858161 scopus 로고
    • Multiple proteolytic systems, including the proteasome, contribute to CFTR processing
    • Jensen, T.J. et al. (1995) Multiple proteolytic systems, including the proteasome, contribute to CFTR processing, Cell 83, 129-135
    • (1995) Cell , vol.83 , pp. 129-135
    • Jensen, T.J.1
  • 16
    • 0026781952 scopus 로고
    • Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive
    • Denning, G.M. et al. (1992) Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive. Nature 358, 761-764
    • (1992) Nature , vol.358 , pp. 761-764
    • Denning, G.M.1
  • 17
    • 0027483610 scopus 로고
    • The cystic fibrosis mutation (ΔF508) does not influence the chloride channel activity of CFTR
    • Li, C. et al. (1993) The cystic fibrosis mutation (ΔF508) does not influence the chloride channel activity of CFTR, Nat. Genet. 3, 311-316
    • (1993) Nat. Genet. , vol.3 , pp. 311-316
    • Li, C.1
  • 18
    • 0028977988 scopus 로고
    • - channel is functional when retained in endoplasmic reticulum of mammalian cells
    • - channel is functional when retained in endoplasmic reticulum of mammalian cells, J. Biol. Chem. 270, 12347-12350
    • (1995) J. Biol. Chem. , vol.270 , pp. 12347-12350
    • Pasyk, E.A.1    Foskett, J.K.2
  • 19
    • 0028929909 scopus 로고
    • Mechanism of dysfunction of two nucleotide binding domain mutations in cystic fibrosis transmembrane conductance regulator that are associated with pancreatic sufficiency
    • Sheppard, D.N., Ostedgaard, L.S., Winter, M.C. and Welsh, M.J. (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
    • (1995) EMBO J. , vol.14 , pp. 876-883
    • Sheppard, D.N.1    Ostedgaard, L.S.2    Winter, M.C.3    Welsh, M.J.4
  • 20
    • 0019441262 scopus 로고
    • Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches
    • Harmill, O.P. et al. (1981) Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches, Pflügers Arch. 391, 85-100
    • (1981) Pflügers Arch. , vol.391 , pp. 85-100
    • Harmill, O.P.1
  • 21
    • 0027423190 scopus 로고
    • Multi-ion pore behaviour in the CFTR chloride channel
    • Tabcharani, J.A. et al. (1993) Multi-ion pore behaviour in the CFTR chloride channel, Nature 366, 79-82
    • (1993) Nature , vol.366 , pp. 79-82
    • Tabcharani, J.A.1
  • 22
    • 0028264188 scopus 로고
    • Amino acid residues lining the chloride channel of the cystic fibrosis transmembrane conductance regulator
    • Akabas, M.H., Kaufmann, C., Cook, T.A. and Archdeacon, P. (1994) Amino acid residues lining the chloride channel of the cystic fibrosis transmembrane conductance regulator, J. Biol. Chem. 269, 14865-14868
    • (1994) J. Biol. Chem. , vol.269 , pp. 14865-14868
    • Akabas, M.H.1    Kaufmann, C.2    Cook, T.A.3    Archdeacon, P.4
  • 23
    • 0029060107 scopus 로고
    • A change in gating mode leading to increased intrinsic CT channel activity compensates for defective processing in a cystic fibrosis mutant corresponding to a mild form of the disease
    • Champigny, G. et al. (1995) A change in gating mode leading to increased intrinsic CT channel activity compensates for defective processing in a cystic fibrosis mutant corresponding to a mild form of the disease, EMBO J. 14, 2417-2423
    • (1995) EMBO J. , vol.14 , pp. 2417-2423
    • Champigny, G.1
  • 24
    • 0029003982 scopus 로고
    • A cystic fibrosis mutation associated with mild lung disease
    • Can, K-H. el al. (1995) A cystic fibrosis mutation associated with mild lung disease, New Engl. J. Med. 333, 95-99
    • (1995) New Engl. J. Med. , vol.333 , pp. 95-99
    • Can, K.-H.1
  • 25
    • 0028047286 scopus 로고
    • Relationship of a non-cystic fibrosis transmembrane conductance regulator-mediated chloride conductance to organ-level disease in Cftr(-/-) mice
    • Clarke, L.L. et al. (1994) Relationship of a non-cystic fibrosis transmembrane conductance regulator-mediated chloride conductance to organ-level disease in Cftr(-/-) mice, Proc. Natl. Acad. Sci. U. S. A. 91, 479-483
    • (1994) Proc. Natl. Acad. Sci. U. S. A. , vol.91 , pp. 479-483
    • Clarke, L.L.1
  • 26
    • 0028982894 scopus 로고
    • CFTR as a cAMP-dependent regulator of sodium channels
    • Stutts, M.J. et al. (1995) CFTR as a cAMP-dependent regulator of sodium channels, Science 269, 847-850
    • (1995) Science , vol.269 , pp. 847-850
    • Stutts, M.J.1
  • 27
    • 0029164287 scopus 로고
    • The ABC of channel regulation
    • Higgins, C.F. (1995) The ABC of channel regulation, Cell 82, 693-696
    • (1995) Cell , vol.82 , pp. 693-696
    • Higgins, C.F.1
  • 28
    • 0029118117 scopus 로고
    • Two cystic fibrosis transmembrane conductance regulator mutations have different effects on both pulmonary phenotype and regulation of outwardly reclined chloride currents
    • Fulmer, S.B. et al. (1995) Two cystic fibrosis transmembrane conductance regulator mutations have different effects on both pulmonary phenotype and regulation of outwardly reclined chloride currents, Proc. Natl. Acad. Sci. U. S. A. 92, 6832-6836
    • (1995) Proc. Natl. Acad. Sci. U. S. A. , vol.92 , pp. 6832-6836
    • Fulmer, S.B.1
  • 29
    • 0028825747 scopus 로고
    • Gene therapy for cystic fibrosis: Challenges and future directions
    • Wilson, J.M. (1995) Gene therapy for cystic fibrosis: challenges and future directions, J. Clin. Invest. 96, 2547-2554
    • (1995) J. Clin. Invest. , vol.96 , pp. 2547-2554
    • Wilson, J.M.1
  • 30
    • 33745804180 scopus 로고
    • Treatment of the nasal epithelium of CF mice with liposomes containing purified CFTR protein
    • Ramjeesingh, M. et al. (1995) Treatment of the nasal epithelium of CF mice with liposomes containing purified CFTR protein, Pediatr. Pulmonol. (Suppl.) 12, S10.7.
    • (1995) Pediatr. Pulmonol. (Suppl.) , vol.12
    • Ramjeesingh, M.1
  • 31
    • 0028944377 scopus 로고
    • Functional activation of the cystic fibrosis trafficking mutant ΔF508-CFTR by overexpression
    • Cheng, S.H. et al. (1995) Functional activation of the cystic fibrosis trafficking mutant ΔF508-CFTR by overexpression, Am. J. Physiol. 268, L615-L624
    • (1995) Am. J. Physiol. , vol.268
    • Cheng, S.H.1
  • 32
    • 33749842697 scopus 로고
    • Glycerol treatments result in the proper processing and function of the CFTR protein
    • Brown, C.R. et al. (1995) Glycerol treatments result in the proper processing and function of the CFTR protein, Pediatr. Pulmonol. (Suppl.) 12, S20.6
    • (1995) Pediatr. Pulmonol. (Suppl.) , vol.12
    • Brown, C.R.1
  • 33
    • 0030042386 scopus 로고    scopus 로고
    • Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation
    • Sato, S. et al. (1996) Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation, J. Biol. Chem. 271, 635-638
    • (1996) J. Biol. Chem. , vol.271 , pp. 635-638
    • Sato, S.1
  • 34
    • 33749840768 scopus 로고
    • Regulation of vesicular associated CFTR trafficking
    • Bradbury, N.A. and Bridges, R.J. (1995) Regulation of vesicular associated CFTR trafficking, Pediatr. Pulmonol. (Suppl.) 12, 117-118
    • (1995) Pediatr. Pulmonol. (Suppl.) , vol.12 , pp. 117-118
    • Bradbury, N.A.1    Bridges, R.J.2
  • 35
    • 0008600915 scopus 로고
    • Inhibition of specific phosphodiesterases in CF airway epithelial cells activates mutant CFTRs
    • Dramm, M.L. and Kelley, T.J. (1995) Inhibition of specific phosphodiesterases in CF airway epithelial cells activates mutant CFTRs, Pediatr. Pulmonol. (Suppl.) 12, 150-151
    • (1995) Pediatr. Pulmonol. (Suppl.) , vol.12 , pp. 150-151
    • Dramm, M.L.1    Kelley, T.J.2
  • 37
    • 0028928015 scopus 로고
    • - channels by the tyrosine kinase inhibitor genistein
    • - channels by the tyrosine kinase inhibitor genistein, Am. J. Physiol. 268, C886-C893
    • (1995) Am. J. Physiol. , vol.268
    • Illek, B.1
  • 38
    • 0028577602 scopus 로고
    • Phosphatase inhibitors activate normal and defective CFTR chloride channels
    • Becq, F. et al. (1994) Phosphatase inhibitors activate normal and defective CFTR chloride channels, Proc. Natl. Acad. Sci. U. S. A. 91, 9160-9164
    • (1994) Proc. Natl. Acad. Sci. U. S. A. , vol.91 , pp. 9160-9164
    • Becq, F.1
  • 40
    • 0028070453 scopus 로고
    • Effects of pyrophosphate and nucleotide analogs suggest a role for ATP hydrolysis in cystic fibrosis transmembrane regulator channel gating
    • Gunderson, K.L. and Kopito, R.R. (1994) Effects of pyrophosphate and nucleotide analogs suggest a role for ATP hydrolysis in cystic fibrosis transmembrane regulator channel gating, J. Biol. Chem. 269, 19349-19353
    • (1994) J. Biol. Chem. , vol.269 , pp. 19349-19353
    • Gunderson, K.L.1    Kopito, R.R.2
  • 41
    • 0029131887 scopus 로고
    • Pyrophosphate stimulates wild-type and mutant cystic fibrosis transmembrane conductance regulator CT channels
    • Carson, M.R., Winter, M.C., Travis, S.M. and Welsh, M.J. (1995) Pyrophosphate stimulates wild-type and mutant cystic fibrosis transmembrane conductance regulator CT channels, J. Biol. Chem. 270, 20466-20472
    • (1995) J. Biol. Chem. , vol.270 , pp. 20466-20472
    • Carson, M.R.1    Winter, M.C.2    Travis, S.M.3    Welsh, M.J.4
  • 42
    • 0028247368 scopus 로고
    • The substituted benzunidazolone NS004 is an opener of the cystic fibrosis chloride channel
    • Gribkoff, V.K. et al. (1994) The substituted benzunidazolone NS004 is an opener of the cystic fibrosis chloride channel, J. Biol. Chem. 269, 10983-10986
    • (1994) J. Biol. Chem. , vol.269 , pp. 10983-10986
    • Gribkoff, V.K.1
  • 43
    • 0026611093 scopus 로고
    • 1 adenosine-receptor antagonists activate chloride efflux from cystic fibrosis cells
    • 1 adenosine-receptor antagonists activate chloride efflux from cystic fibrosis cells, Proc. Natl. Acad. Sci. U. S. A. 89, 5562-5566
    • (1992) Proc. Natl. Acad. Sci. U. S. A. , vol.89 , pp. 5562-5566
    • Eidelman, O.1
  • 44
    • 0025845558 scopus 로고
    • Regulation of transepithelial ion transport and intracellular calcium by extracellular ATP in human normal and cystic fibrosis airway epithelium
    • Mason, S.J., Paradiso, A.M. and Boucher, R.C. (1991) Regulation of transepithelial ion transport and intracellular calcium by extracellular ATP in human normal and cystic fibrosis airway epithelium, Br. J. Pharmacol. 103, 1649-1656
    • (1991) Br. J. Pharmacol. , vol.103 , pp. 1649-1656
    • Mason, S.J.1    Paradiso, A.M.2    Boucher, R.C.3
  • 45
    • 0025874599 scopus 로고
    • Activation by extracellular nucleotides of chloride secretion in the airway epithelia of patients with cystic fibrosis
    • Knowles, M.R., Clarke, L.L. and Boucher, R.C. (1991) Activation by extracellular nucleotides of chloride secretion in the airway epithelia of patients with cystic fibrosis, New Engl. J. Med. 325, 533-538
    • (1991) New Engl. J. Med. , vol.325 , pp. 533-538
    • Knowles, M.R.1    Clarke, L.L.2    Boucher, R.C.3


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