The therapeutic potential of the human cystic fibrosis transmembrane conductance regulator gene

Bibliography

• BOAT TF, WELSH MJ, BEAUDET AL: Cystic fibrosis. In: The Metabolic Basis of Inherited Disease. Scriver CR, Beaudet AL, Sly WS, Valle D (Eds.), McGraw-Hill, Inc., New York (1989) :2649–2680.
   Google Scholar
• ROMMENS JM, IANNUZZI MC, KEREM BS et al.. Identifica- ?tion of the cystic fibrosis gene: chromosome walking and jumping. Science (1989) 245 (4922) :1059–1065.
   PubMed Web of Science ®Google Scholar
• RIORDAN JR, ROMMENS JM, KEREM BS et al Identification of the cystic fibrosis gene cloning and charac-terization of complementary DNA. Science (1989) 245(4922)1066-1073 [Erratum, Science (1989) 245(4925): 1437–1989].
   Google Scholar
• KEREM BS, ROMMENS JM, BUCHANAN JA et al.: Identifi cation of the cystic fibrosis gene: genetic analysis. Science (1989) 245(4922) :1073–1080.
   PubMed Web of Science ®Google Scholar
• The three references above describe the cloning of the gene, and cDNA encoding CFTR and its genetic analysis.
   Google Scholar
• ACKERMAN MJ, CLAPHAM DE: Ion channels - basic sci-ence and clinical disease. New Engl. J. Med. (1997) 336(22) 1575–1586.
   PubMed Web of Science ®Google Scholar
• CURIEL DT, PILEWSKI JM, ALBELDA SM: Gene therapy approaches for inherited and acquired lung diseases. Am. J. Respir. Cell Mol. Biol. (1996) 14:1-18. A good review on gene delivery systems to the lung.
   Google Scholar
• GRAHAM FL, PREVEC L: Manipulation of adenovirus vectors. In: Methods of MolecularBiology, Vol. 7 Murray EJ (Ed.), The Humana Press, Inc., Clifton, NJ (1990:109–128.
   Google Scholar
• YANG Y, NUNES FA, BERENCSI K etal.: Cellular immunity to viral antigens limits El-deleted adenovirus for gene therapy. Proc. Natl. Acad. Sci. USA (1994) 91(10):4407–4411.
   Google Scholar
• YANG Y, LI Q, ERTL HCJ, WILSON JM: Cellular and humoral immune responses to viral antigens create barriers to lung-directed gene therapy with recombi-nant adenoviruses. j ViroL (1995) 69(4):2004–2015.
   PubMed Web of Science ®Google Scholar
• TRIPATHY SK, BLACK HB, GOLDWASSER E, LEIDEN JM: Immune responses to transgene -encoded proteins limit the stability of gene expression after injection of repli-cation-defective adenovirus vectors. Nature Med. (1996) 2(5)545–550.
   Google Scholar
• MICHOU Al, SANTORO L, CHRIST M et al.: Adenovirus-me- diated gene transfer: influence of transgene, mouse strain and type of immune response on persistence of transgene expression. Gene Ther. (1997) 4(5):473–482.
   PubMed Web of Science ®Google Scholar
• The last two references demonstrate that immune responses against the transgene play a major role in determining persistency of gene expression.
   Google Scholar
• GORZIGLIA MI, KADAN MJ, YET S et al. Elimination of both El and E2a from adenovirus vectors further im-proves prospects for in vivo human gene therapy. J. Vim]. (1996) 70(6):4173–4178.
   Web of Science ®Google Scholar
• ZHOU H, O'NEAL W, MORRAL N, BEAUDET AL.: Develop-ment of a complementing cell line and a system for construction of adenovirus vectors with El and F2a deleted. J. Virol (1996) 70(10):7030–7038.
   Google Scholar
• WANG Q, X-C JIA, FINER MU: A packaging cell line for propagation of recombinant adenovirus vectors con-taining two lethal gene-region deletions. Gene Ther. (1995) 2(10):775–783.
   PubMed Web of Science ®Google Scholar
• KROUGLIAK V, GRAHAM FL: Development of cell lines capable of complementing El, E4, and protein Di defec-tive adenovirus type 5 mutants. Hum. Gene Ther. (1995) 6(12):1575–1586.
   PubMed Web of Science ®Google Scholar
• YEH P, DEDIEU J-F, ORSINI C et al.: Efficient dual transcomplementation of adenovirus El and E4 regions from a 293-derived cell line expressing a minimal E4 functional unit. J. Virol (1996) 70(1):559–565.
   PubMed Web of Science ®Google Scholar
• BROUGH DE, LIZONOVA A, HSU C, KULESA VA, KOVESDI I: A gene transfer vector-cell line system for complete functional complementation of adenovirus early re-gions El and E4.j Vim]. (1996) 70(9):6497–6501.
   Web of Science ®Google Scholar
• MITANI K, GRAHAM FL, CASKEY CT, KOCHANEK S: Res-cue, propagation, and partial purification of a helper virus-dependent adenovirus vector. Proc. Natl. Acad. Sci. USA (1995) 92(9):3854–3858.
   PubMed Web of Science ®Google Scholar
• FISHER KJ, CHOI H, BURDA J, CHEN S-J, WILSON JM:Recombinant adenovirus deleted of all viral genes for gene therapy of cystic fibrosis. Virology (1996) 217(0:11–22.
   PubMedGoogle Scholar
• GAO G-P, YANG Y, WILSON JM: Biology of adenovirusvectors with El and E4 deletions for liver-directed gene therapy. J. Vim]. (1996) 70(12):8934–8943.
   Web of Science ®Google Scholar
• WANG Q, GREENBURG G, BUNCH D, FARSON D, FINER MU: Persistent transgene expression in mouse liver following in vivo gene transfer with a AE1/4E4 ade-novirus vector. Gene Ther. (1997) 4(5):393–400.
   PubMed Web of Science ®Google Scholar
• DEDIEU J-F, VIGNE E, TORRENT C et al.: Long-term gene delivery into the livers of immunocompetent mice with E1/E4-defective adenoviruses. j Vim]. (1997) 71(6)4626–4637.
   Google Scholar
• ILAN Y, DROGUETT G, CHOWDHURY NR et al.: Insertion of the adenoviral E3 region into a recombinant viral vector prevents antiviral humoral and cellular immune responses and permits long-term gene expression. Proc. Natl. Acad. Sci. USA (1997) 94(02587–2592.
   PubMed Web of Science ®Google Scholar
• The paper demonstrates that insertion of the E3 region allows re-administration of a functional adenovirus vector.
   Google Scholar
• CHEN H-H, MACK LM, KELLY R et al: Persistence in muscle of an adenoviral vector that lacks all viral genes. Proc. Natl. Acad. Sci. USA (1997) 94(01645–1650.
   PubMed Web of Science ®Google Scholar
• KAPLAN JM, ARMENTANO D, SPARER TE et al. Charac- terization of factors involved in modulating persistence of transgene expression from recombinant adenovirus in the mouse lung. Hum. Gene Ther. (1997) 8(1):45–56.
   PubMed Web of Science ®Google Scholar
• ARMENTANO D, ZABNER J, SACKS C et al.: Effect of the E4 region on the persistence of transgene expression from adenovirus vectors. J. Vim]. (1997) 71(3):2408–2416. It shows that the complexity of the biology of AELAE4 adenoviruses.
   Google Scholar
• HEHIR KM, ARMENTANO D, CARDOZA LM et al: Molecular characterization of replication-competent variants of adenovirus vectors and genome modifications to pre-vent their occurrence. J. Vim]. (1996) 70 (12) :8459–8467.
   Web of Science ®Google Scholar
• CLARK KR, VOULGAROPOULOU F, FRALEY DM, JOHNSON PR: Cell lines for the production of recombinant adeno-associated virus. Hum. Gene Ther. (1995) 6 (10):1329–1341.
   PubMed Web of Science ®Google Scholar
• TAMAYOSE K, HIRAI Y, SHIMADA T: A new strategy for large-scale preparation of high-titer recombinant adeno-associated virus vectors by using packaging cell lines and sulfonated cellulose column chromatogra-phy. Hum. Gene Ther. (1996) 7(4):507–513.
   PubMed Web of Science ®Google Scholar
• CLARK KR, VOULGAROPOULOU F, JOHNSON PR: A stable cell line carrying adenovirus-inducible rep and cap genes allows for infectivity titration of adeno-associ-ated virus vectors. Gene Ther. (1996) 3(12):1124–1132.
   PubMed Web of Science ®Google Scholar
• FISHER KJ, GAO G-P, VVEITZMAN MD et al.: Transduction with recombinant adeno-associated virus for gene ther-apy is limited by leading-strand synthesis. J. Vim]: (1996) 70(1)520–532.
   Google Scholar
• FERRARI FK, SAMULSKI T, SHENK T, SAMULSKI RJ: Second- strand synthesis is a rate-limiting step for efficient transduction by recombinant adeno-associated virus vectors. J. Vim]. (1996) 70(5):3227–3234.
   Web of Science ®Google Scholar
• Both articles describe the influence of the adenovirus genome on AAV transduction.
   Google Scholar
• LEE ER, MARSHALL J, SIEGEL CS et al.: Detailed analysis of structures and formulations of cationic lipids for efficient gene transfer to the lung. Hum. Gene Ther. (1996) 7(14):1701–1717.
   PubMed Web of Science ®Google Scholar
• This paper describes a major advance in cationic lipid/DNA formu-lation for gene transfer to the lung.
   Google Scholar
• YEW NS, WYSOKENSKI DM, WANG KX et al.: Optimization of plasmid vectors for high-level expression in lung epithelial cells. Hum. Gene Ther. (1997) 8(5):575–584.
   PubMed Web of Science ®Google Scholar
• SCHEULE RK, ST. GEORGE JA, BAGLEY RG et al.: Basis of pulmonary toxicity associated with cationic lipid-medi-ated gene transfer to the mammalian lung. Hum. Gene Ther. (1997) 8(6):689–707.
   Google Scholar
• KATKIN JP, GILBERT BE, LANGSTON C, FRENCH K, BEAUDET AL: Aerosol delivery of a I3-galactosidase ade-noviral vector to the lungs of rodents. Hum. Gene Ther. (1995) 6(8):985–995.
   PubMed Web of Science ®Google Scholar
• SENE C, BOUT A, IMLER J-L et al.: Aerosol-mediated delivery of recombinant adenovirus to the airways of nonhuman primates. Hum. Gene Ther. (1995) 6(12):1587–1593.
   PubMed Web of Science ®Google Scholar
• MCDONALD RJ, LUKASON MJ, RAABE OG et al.: Safety ofairway gene transfer with Ad2/CFTR2: aerosol admini-stration in the non-human primate. Hum. Gene Ther. (1997) 8(4):411–422.
   PubMedGoogle Scholar
• BELLON G, MICHEL-CALEMARD L, THOUVENOT D et al.: Aerosol administration of a recombinant adenovirus expressing CFTR to cystic fibrosis patients: a Phase I clinical trial. Hum. Gene Ther. (1997) 8(0:15–25.
   PubMedGoogle Scholar
• CROOK K, MCLACHLAN G, STEVENSON BJ, PORTEOUS DJ: Plasmid DNA molecules complexed with cationic liposomes are protected from degradation by nucleases and shearing by aerosolisation. Gene Ther. (1996) 3 (9) 834–839.
   PubMed Web of Science ®Google Scholar
• EASTMAN SJ, TOUSIGNANT JD, LUKASON MJ et al: Opti-mization of formulations and conditions for the aerosol delivery of functional cationic lipid: DNA complexes. Hum. Gene Ther. (1997) 8 (3) :313–322.
   PubMed Web of Science ®Google Scholar
• EASTMAN SJ, LUKASON MJ, TOUSIGNANT JD et al.: A concentrated and stable aerosol formulation of cationic lipid: DNA complexes giving high-level gene expres-sion in mouse lung. Hum. Gene Ther. (1997) 8(6)765–773.
   Google Scholar
• ALTON EWFW, CHADWICK SL, SMITH SN et al: Lower airway potential difference measurements in nonCE and CF subjects. Pediatr. Pulmonol. (1996) Suppl. 13:240.
   Google Scholar
• This abstract shows that the lower airways of CF patients have many electrophysiological characteristics that are similar to those seen in the nasal epithelium.
   Google Scholar
• STERN M, MUNKONGE FM, CAPLEN NJ et al.: Quantitative fluorescence measurements of chloride secretion in native airway epithelium from CF and non-CF subjects. Gene Ther. (1995) 2(10766–774.
   Google Scholar
• RENIER M, TAMANINI A, NICOLIS E et al.: Use of a mem-brane potential-sensitive probe to assess biological expression of the cystic fibrosis transmembrane con-ductance regulator. Hum. Gene Ther. (1995) 6(101275–1283.
   Google Scholar
• SMITH JJ, TRAVIS SM, GREENBERG EP, WELSH MJ: Cystic fibrosis airway epithelia fail to kill bacteria because of abnormal airway surface fluid. Cell (1996) 85(2) 229–236.
   PubMed Web of Science ®Google Scholar
• GOLDMAN MJ et al.: Human I3-defensin-1 is a salt-sensi-tive antibiotic in lung that is inactivated in cystic fibro-sis. Cell (1997) 88 (4) 553–560.
   PubMed Web of Science ®Google Scholar
• PAVELKA K, SMITH WJ, BURR EA et al.: Quantitation of gene transfer to murine airway epithelial cells in vivo by fluorescent in situ hybridisation (FISH). Pediatr. Pulmonol. (1996) Suppl. 13:220.
   Google Scholar
• ZABNER J, COUTURE LA, GREGORY RJ et al: Adenovirus-mediated gene transfer transiently corrects the chlo-ride transport defect in nasal epithelia of patients with cystic fibrosis. Cell (1993) 75(2):207–216.
   PubMed Web of Science ®Google Scholar
• CRYSTAL RG, MCELVANEY NG, ROSENFELD MA et al.: Administration of an adenovirus containing the human CFTR cDNA to the respiratory tract of individuals with cystic fibrosis. Nature Gen. (1994) 8 (1) :42–51.
   PubMed Web of Science ®Google Scholar
• HAY JG, MCELVANEY NG, HERENA J, CRYTAL RG: Modifi-cation of nasal epithelial potential differences of indi- viduals with cystic fibrosis consequent to local admini-stration of a normal CFTR cDNA adenovirus gene transfer vector. Hum. Gene Ther. (1995) 6(1 0 :1487–1496.
   Google Scholar
• KNOWLES MR, HOHNEKER KW, ZHOU Z et al.: A control- led study of adenoviral-vector-mediated gene transfer in the nasal epithelium of patients with cystic fibrosis. New Engl. J. Med. (1995) 333(13):823–831.
   PubMed Web of Science ®Google Scholar
• CAPLEN NJ, ALTON EWFW, MIDDLETON PG et al.:Liposome-mediated CFTR gene transfer to the nasal epithelium of patients with cystic fibrosis. Nature Med. (1995) 1(0:39–46.
   PubMedGoogle Scholar
• MCELVANEY NG, CRYSTAL RG: IL-6 release and airwayadministration of human CFTR cDNA adenovirus vec-tor. Nature Med. (1995) 1(3):182–184.
   PubMed Web of Science ®Google Scholar
• ROSENBERG M, JANI D, WOODWORTH L et al: Immuno-surveillance of cystic fibrosis patients undergoing ade-novirus-mediated gene transfer. Pediatr. Pulmonol (1996) Suppl. 13:222.
   Google Scholar
• ZABNER J, RAMSEY BW, MEEKER DP et al.: Repeat admini-stration of an adenovirus vector encoding cystic fibro-sis transmembrane conductance regulator to the nasal epithelium of patients with cystic fibrosis. J. Clin. Invest. (1996) 97(6):1504–1511.
   PubMed Web of Science ®Google Scholar
• FLOTTE T, AFIONE S, BECK S et al.: Phase I trial of AAV-CFTR gene transfer in adult CF patients with mild disease. Pediatr. Pulmonol. (1996) Suppl. 13:236.
   Google Scholar
• WAGNER JA, MORAN ML, MESSNER AH et al.: Safety of delivery of adeno-associated virus mediated gene trans-fer of CFTR in the maxillary sinus of CF patients with antrostomies. Pediatr. Pulmonol (1996) Suppl. 13:239.
   Google Scholar
• GILL DR, SOUTHERN KW, MOFFORD KA et aL: A placebo-controlled study of liposome-mediated gene transfer to the nasal epithelium of patients with cystic fibrosis. Gene Ther. (1997) 4(3):199–209.
   PubMed Web of Science ®Google Scholar
• PORTEOUS DJ, DRIN JR, MCLACHLAN G et al. Evidence for safety and efficacy of DOTAP cationic liposome mediated CFTR gene transfer to the nasal epithelium of patients with cystic fibrosis. Gene Ther. (1997) 4(3) 210–218
   PubMed Web of Science ®Google Scholar