Gene therapy in combination with tissue engineering to treat epidermolysis bullosa

Bibliography

• CHRISTIANO AM, UITTO J: Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa. Exp. Dermatol. (1996) 5:1-11.
   PubMedGoogle Scholar
• BORRADORI L, SONNENBERG A: Structure and function of hemidesmosome: more than simple adhesion complexes. J. Invest. Dermatol. (1999) 112:411-418.
   PubMed Web of Science ®Google Scholar
• POLAK J, HENCH L: Gene therapy progress and prospects: in tissue engineering. Gene Ther. (2005) 12:1725-1733.
   PubMed Web of Science ®Google Scholar
• DE LUCA M, PELLEGRINI G, GREEN H: Regeneration of squamous epithelia from stem cells of cultured grafts. Regenerative Med. (2006) (In Press).
   PubMedGoogle Scholar
• BARRANDON Y, GREEN H: Three clonal types of keratinocytes with different capacities for multiplication. Proc. Natl. Acad. Sci. USA (1987) 84:2302-2306.
   PubMed Web of Science ®Google Scholar
• ROCHAT A, KOBAYASHI K, BARRANDON Y: Location of stem cells of human hair follicles by clonal analysis. Cell (1994) 76:1063-1073.
   PubMed Web of Science ®Google Scholar
• MATHOR MB, FERRARI G, DELLAMBRA E et al.: Clonal analysis of stably transduced human epidermal stem cells in culture. Proc. Natl. Acad. Sci. USA (1996) 93:10371-10376.
   PubMed Web of Science ®Google Scholar
• PELLEGRINI G, GOLISANO O, PATERNA P et al.: Location and clonal analysis of stem cells and their differentiated progeny in the human ocular surface. J. Cell Biol. (1999) 145:769-782.
   PubMed Web of Science ®Google Scholar
• DELLAMBRA E, MOLISANO O, BONDANZA S et al.: Downregulation of 14-3-3sigma prevents clonal evolution and leads to immortalization of primari human keratinocytes. J. Cell. Biol. (2000) 149:1117-1130.
   PubMed Web of Science ®Google Scholar
• OSHIMA H, ROCHAT A, KEDZIA C, KOBAYASHI K, BARRANDON Y: Morphogenesis and renewal of hair follicles from adult multipotent stem cells. Cell (2001) 104:233-245.
   PubMed Web of Science ®Google Scholar
• PELLEGRINI G, DELLAMBRA E, GOLISANO O et al.: p63 identifies keratinocyte stem cells. Proc. Natl. Acad. Sci. USA (2001) 98:3156-3161.
   PubMed Web of Science ®Google Scholar
• BLANPAIN C, LOWRY WE, GEOGHEGAN A, POLAK L, FUCHS E: Self-renewal, multipotency, and the existence of two cell populations within an epithelial stem cell niche. Cell (2004) 118:635-648.
   PubMed Web of Science ®Google Scholar
• CLAUDINOT S, NICOLAS M, OSHIMA H, ROCHAT A, BARRANDON Y: Long-term renewal of hair follicles from clonogenic multipotent stem cells. Proc. Natl. Acad. Sci. USA (2005) 102:14677-14682.
   PubMed Web of Science ®Google Scholar
• DI IORIO E, BARBARO V, RUZZA A, PONZIN D, PELLEGRINI G, DE LUCA M: Isoforms of ΕNp63 and the migration of ocular limbal cells in human corneal regeneration. Proc. Natl. Acad. Sci. USA (2005) 102:9523-9528.
   PubMed Web of Science ®Google Scholar
• RHEINWALD JG, GREEN H: Serial cultivation of strains of human epidermal keratinocytes: the formation of keratinizing colonies from single cells. Cell (1975) 6:331-343.
   PubMed Web of Science ®Google Scholar
• GREEN H, KEHINDE O, THOMAS J: Growth of cultured human epidermal cells into multiple epithelia suitable for grafting. Proc. Natl. Acad. Sci. USA (1979) 76:5665-5668.
   PubMed Web of Science ®Google Scholar
• O’CONNOR NE, MULLIKEN JB, BANKS-SCHLEGEL S, KEHINDE O, GREEN H: Grafting of burns with cultured epithelium prepared from autologous epidermal cells. Lancet (1981) 1:75-78.
   PubMed Web of Science ®Google Scholar
• GALLICO GG 3RD, O’CONNOR NE, COMPTON CC, KEHINDE O, GREEN H: Permanent coverage of large burn wounds with autologous cultured human epithelium. N. Engl. J. Med. (1984) 311:448-451.
   PubMed Web of Science ®Google Scholar
• PELLEGRINI G, RANNO R, STRACUZZI G et al.: The control of epidermal stem cells (holoclones) in the treatment of massive full-thickness burns. Transplantation (1999) 68:868-879.
   PubMed Web of Science ®Google Scholar
• RONFARD V, RIVES JM, NEVEUX Y, CARSIN H, BARRANDON Y: Long-term regeneration of human epidermis on third degree burns transplanted with autologous cultured epithelium grown on a fibrin matrix. Transplantation (2000) 70:1588-1598.
   PubMed Web of Science ®Google Scholar
• RONFARD V, BROLY H, MITCHELL V et al.: Use of human keratinocytes cultured on fibrin glue in the treatment of burn wounds. Burns (1991) 17:181-184.
   PubMed Web of Science ®Google Scholar
• PELLEGRINI G, TRAVERSO CE, FRANZI AT, ZINGIRIAN M, CANCEDDA R, DE LUCA M: Long-term restoration of damaged corneal surfaces with autologous cultivated corneal epithelium. Lancet (1997) 349:990-993.
   PubMed Web of Science ®Google Scholar
• RAMA P, BONINI S, LAMBIASE A et al.: Autologous fibrin-cultured limbal stem cells permanently restore the corneal surface of patients with total limbal stem cell deficiency. Transplantation (2001) 72:1478-1485.
   PubMed Web of Science ®Google Scholar
• CUONO C, LANGDON R, MCGUIRE J: Use of cultured epidermal autografts and dermal allografts as skin replacement after burn injury. Lancet (1986) 1:1123-1124.
   PubMed Web of Science ®Google Scholar
• NAVE M: Wound bed preparation: approaches to replacement of dermis. J. Burn Care Rehabil. (1992) 13:147-153.
   PubMedGoogle Scholar
• COMPTON CC, HICKERSON W, NADIRE K, PRESS W: Acceleration of skin regeneration from cultured epithelial autografts by transplantation to homograft dermis. J. Burn Care Rehabil. (1993) 14:653-662.
   PubMedGoogle Scholar
• HICKERSON WL, COMPTON C, FLETCHALL S, SMITH LR: Cultured epidermal autografts and allodermis combination for permanent burn wound coverage. Burns (1994) 20(Suppl. 1):S52-S55.
   PubMed Web of Science ®Google Scholar
• CARSIN H, AINAUD P, LE BEVER H et al.: Cultured epithelial autografts in extensive burn coverage of severely traumatized patients: a five year single-center experience with 30 patients. Burns (2000) 26:379-387.
   PubMed Web of Science ®Google Scholar
• COMPTON CC, NADIRE KB, REGAUER S et al.: Cultured human sole-derived keratinocyte grafts re-express site-specific differentiation after transplantation. Differentiation (1998) 64:45-53.
   PubMed Web of Science ®Google Scholar
• TSAI RJ, LI LM, CHEN JK: Reconstruction of damaged corneas by transplantation of autologous limbal epithelial cells. N. Engl. J. Med. (2000) 343:86-93.
   PubMed Web of Science ®Google Scholar
• ROMAGNOLI G, DE LUCA M, FARANDA F et al.: Treatment of posterior hypospadias by the autologous graft of cultured urethral epithelium. N. Engl. J. Med. (1990) 323:527-530.
   PubMed Web of Science ®Google Scholar
• GUERRA L, CAPURRO S, MELCHI F et al.: Treatment of ‘stable’ vitiligo by timed surgery and transplantation of cultured epidermal autografts. Arch. Dermatol. (2000) 136:1380-1389.
   PubMed Web of Science ®Google Scholar
• GUERRA L, PRIMAVERA G, RASKOVIC D et al.: Erbium: YAG laser and cultured epidermis in the surgical therapy of stable vitiligo. Arch. Dermatol. (2003) 139:1303-1310.
   PubMed Web of Science ®Google Scholar
• GUERRA L, PRIMAVERA G, RASKOVIC D et al.: Permanent repigmentation of piebaldism by erbium: YAG laser and autologous cultured epidermis. Br. J. Dermatol. (2004) 150:715-721.
   PubMed Web of Science ®Google Scholar
• FENJVES ES, YAO SN, KURACHI K, TAICHMAN LB: Loss of expression of a retrovirus-transduced gene in human keratinocytes. J. Invest. Dermatol. (1996) 106:576-578.
   PubMed Web of Science ®Google Scholar
• CHOATE KA, KHAVARI PA: Sustainability of keratinocyte gene transfer and cell survival in vivo. Hum. Gene Ther. (1997) 8:895-901.
   PubMed Web of Science ®Google Scholar
• NG RL, WOODWARD B, BEVAN S, GREEN C, MARTIN R: Retroviral marking identifies grafted autologous keratinocytes in porcine wounds receiving cultured epithelium. J. Invest. Dermatol. (1997) 108:457-462.
   PubMed Web of Science ®Google Scholar
• DENG H, LIN Q, KHAVARI PA: Sustainable cutaneous gene delivery. Nat. Biotechnol. (1997) 15:1388-1391.
   PubMed Web of Science ®Google Scholar
• KOLODKA TM, GARLICK JA, TAICHMAN LB: Evidence for keratinocyte stem cells in vitro: long term engrafment and persistence of transgene expression from retrovirus-transduced keratinocytes. Proc. Natl. Acad. Sci. USA (1998) 95:4356-4361.
   PubMed Web of Science ®Google Scholar
• LEVY L, BROAD S, ZHU AJ et al.: Optimised retroviral infection of human epidermal keratinocytes: long-term expression of transduced integrin gene following grafting on to SCID mice. Gene Ther. (1998) 5:913-922.
   PubMed Web of Science ®Google Scholar
• WHITE SJ, PAGE SM, MARGARITIS P, BROWNLEE GG: Long-term expression of human clotting Factor IX from retrovirally transduced primary human keratinocytes in vivo. Hum. Gene Ther. (1998) 9:1187-1195.
   PubMed Web of Science ®Google Scholar
• DEL RIO M, LARCHER F, SERRANO F et al.: A preclinical model for the analysis of genetically modified human skin in vivo. Hum. Gene Ther. (2002) 13:959-968.
   PubMed Web of Science ®Google Scholar
• MEYKADEH N, MIRMOHAMMADSADEGH A, WANG Z, BASNER-TSCHAKARJAN E, HENGGE UR: Topical application of plasmid DNA to mouse and human skin. J. Mol. Med. (2005) 83:897-903.
   PubMed Web of Science ®Google Scholar
• GHAZIZADEH S, KALISH RS, TAICHMAN LB: Immune-mediated loss of transgene expression in skin: implications for cutaneous gene therapy. Mol. Ther. (2003) 7:296-303.
   PubMed Web of Science ®Google Scholar
• JIANG QJ, UITTO J: Animal models of epidermolysis bullosa-targets for gene therapy. J. Invest. Dermatol. (2005) 124:xi-xiii.
   PubMed Web of Science ®Google Scholar
• CHEN M, LI W, FAN J, KASAHARA N, WOODLEY D: An efficient gene transduction system for studying gene function in primary human dermal fibroblasts and epidermal keratinocytes. Clin. Exp.Dermatol. (2003) 28:193-199.
   PubMed Web of Science ®Google Scholar
• DISTLER JH, JUNGEL A, KUROWSKA-STOLARSKA M et al.: Nucleofection: a new, highly efficient transfection method for primary human keratinocytes. Exp. Dermatol. (2005) 14:315-320.
   PubMed Web of Science ®Google Scholar
• COMPTON SH, MECKLENBECK S, MEJIA JE et al.: Stable integration of large (> 100 kb) PAC constructs in HaCaT keratinocytes using an integrin-targeting peptide delivery system. Gene Ther. (2000) 7:1600-1605.
   PubMed Web of Science ®Google Scholar
• MECKLENBECK S, COMPTON SH, MEJIA JE et al.: A microinjected COL7A1-PAC vector restores synthesis of intact procollagen VII in a dystrophic epidermolysis bullosa keratinocyte cell line. Hum. Gene Ther. (2002) 13:1655-1662.
   PubMed Web of Science ®Google Scholar
• DOEBIS C, RITTER T, BRANDT C, SCHONBERGER B, VOLK HD, SEIFERT M: Efficient in vitro transduction of epithelial cells and keratinocytes with improved adenoviral gene transfer for the application in skin tissue engineering. Transplant. Immunol. (2002) 9:323-329.
   PubMed Web of Science ®Google Scholar
• GAGNOUX-PALACIOS L, HERVOUET C, SPIRITO F et al.: Assessment of optimal transduction of primary human skin keratinocytes by viral vectors. J. Gene Med. (2005) 7:1178-1186.
   PubMed Web of Science ®Google Scholar
• RECCHIA A, PERANI L, SARTORI D OLGIATI C, MAVILIO F: Site-specific integration of functional transgenes into the human genome by adeno/AAV hybrid vectors. Mol. Ther. (2004) 10:660-670.
   PubMed Web of Science ®Google Scholar
• BRAUN-FALCO M, EISENRIED A, BUNING H, RING J: Recombinant adeno-associated virus type 2-mediated gene transfer into human keratinocytes is influenced by both the ubiquitin/proteasome pathway and epidermal growth factor receptor tyrosine kinase. Arch. Dermatol. Res. (2005) 296:528-535.
   PubMed Web of Science ®Google Scholar
• DALLINGER G, PUTTARAJU M, MITCHELL LG et al.: Development of spliceosome-mediated RNA trans-splicing (SMaRT™) for the correction of inherited skin diseases. Exp. Dermatol. (2003) 12:37-46.
   PubMed Web of Science ®Google Scholar
• BAUER JW, LANSCHUETZER C: Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy. Clin. Exp.Dermatol. (2003) 28:53-60.
   PubMed Web of Science ®Google Scholar
• ORTIZ-URDA S, THYAGARAJAN B, KEENE DR et al.: Stable nonviral genetic correction of inherited human skin disease. Nat. Med. (2002) 8:1166-1170.
   PubMed Web of Science ®Google Scholar
• ORTIZ-URDA S, THYAGARAJAN B, KEENE DR, LIN Q, CALOS MP, KHAVARI PA: PhiC31 integrase-mediated nonviral genetic correction of junctional epidermolysis bullosa. Hum. Gene Ther. (2003) 14:923-928.
   PubMed Web of Science ®Google Scholar
• ORTIZ-URDA S, LIN Q, YANT SR, KEENE D, KAY MA, KHAVARI PA: Sustainable correction of junctional epidermolysis bullosa via transposon-mediated nonviral gene transfer. Gene Ther. (2003) 10:1099-1104.
   PubMed Web of Science ®Google Scholar
• DELLAMBRA E, VAILLY J, PELLEGRINI G et al.: Corrective transduction of human epidermal stem cells in laminin-5-dependent junctional epidermolysis bullosa. Hum. Gene Ther. (1998) 9:1359-1370.
   PubMed Web of Science ®Google Scholar
• SEITZ CS, GIUDICE GJ, BALDING SD, MARINKOVICH MP, KHAVARI PA: BP180 gene delivery in junctional epidermolysis bullosa. Gene Ther. (1999) 6:42-47.
   PubMed Web of Science ®Google Scholar
• CHEN M, O’TOOLE EA, MUELLENHOFF M et al.: Development and characterization of a recombinant truncated Type VII collagen ‘minigene’. J. Biol. Chem. (2000) 275:24429-24435.
   PubMed Web of Science ®Google Scholar
• ROBBINS PB, LIN Q, GOODNOUGH JB, TIAN H, CHEN X, KHAVARI PA: In vivo restoration of laminin 5 β3 expression and function in junctional epidermolysis bullosa. Proc. Natl. Acad. Sci. USA (2001) 98:5193-5198.
   PubMed Web of Science ®Google Scholar
• DELLAMBRA E, PRISLEI S, SALVATI AL et al.: Gene correction of integrin β4-dependent pyloric atresia-junctional epidermolysis bullosa keratinocytes establishes a role for β4 tyrosines 1422 and 1440 in hemidesmosome assembly. J. Biol. Chem. (2001) 276:41336-41342.
   PubMed Web of Science ®Google Scholar
• BALDESCHI C, GACHE Y, RATTENHOLL A et al.: Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. Hum. Mol. Genet. (2003) 12:1897-1905.
   PubMed Web of Science ®Google Scholar
• GACHE Y, BALDESCHI C, DEL RIO M et al.: Construction of skin equivalents for gene therapy of recessive dystrophic epidermolysis bullosa. Hum. Gene Ther. (2004) 15:921-933.
   PubMed Web of Science ®Google Scholar
• BAJAJ BG, LEI P, ANDREADIS ST: Efficient gene transfer to human epidermal keratinocytes on fibronectin: in vitro evidence for transduction of epidermal stem cells. Mol. Ther. (2005) 11:969-979.
   PubMed Web of Science ®Google Scholar
• CHEN M, KASAHARA N, KEENE DR et al.: Restoration of Type VII collagen expression and function in dystrophic epidermolysis bullosa. Nat. Genet. (2002) 32:670-675.
   PubMed Web of Science ®Google Scholar
• SERRANO F, DEL RIO M, LARCHER F et al.: A comparison of targeting performances of oncoretroviral versus lentiviral vectors on human keratinocytes. Hum. Gene Ther. (2003) 14:1579-1585.
   PubMed Web of Science ®Google Scholar
• KUHN U, TERUNUMA A, PFUTZNER W, FOSTER RA, VOGEL JC: In vivo assessment of gene delivery to keratinocytes by lentiviral vectors. J. Virol. (2002) 76:1496-1504.
   PubMed Web of Science ®Google Scholar
• SCHRODER A, SHINN P, CHEN H, BERRY C, ECKER J, BUSHMAN F: HIV-1 integration in the human genome favors active genes and local hotspots. Cell (2002) 110:521-529.
   PubMed Web of Science ®Google Scholar
• WU X, LI Y, CRISE B, BURGESS SM: Transcription start regions in the human genome are favored targets for MLV integration. Science (2003) 300:1749-1751.
   PubMed Web of Science ®Google Scholar
• DE PALMA M, MONTINI E, SANTONI DE SIO FR et al.: Promoter trapping reveals significant differences in integration site selection between MLV and HIV vectors in primary hematopoietic cells. Blood (2005) 105:2307-2315.
   PubMed Web of Science ®Google Scholar
• HACEIN-BEY-ABINA S, VON KALLE C, SCHMIDT M et al.: LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science (2003) 302:415-419.
   PubMed Web of Science ®Google Scholar
• FREDERICKSON RM: Report from the 2nd stem cell clonality and genotoxicity retreat. Mol. Ther. (2005) 12:379-383.
   Google Scholar
• UITTO J, RICHARD G: Progress in epidermolysis bullosa: from eponyms to molecular genetic classification. Clin. Dermatol. (2005) 23:33-40.
   PubMed Web of Science ®Google Scholar
• D’ALESSANDRO M, MORLEY SM, OGDEN PH, LIOVIC M, PORTER RM, LANE EB: Functional improvement of mutant keratin cells on addition of desmin: an alternative approach to gene therapy for dominant diseases. Gene Ther. (2004) 11:1290-1295.
   PubMed Web of Science ®Google Scholar
• MAGIN TM, KAISER HW, LEITGEB S et al.: Suppl.ementation of a mutant keratin by stable expression of desmin in cultured EBS KCs. J. Cell Sci. (2000) 113:4231-4239.
   PubMed Web of Science ®Google Scholar
• KIRFEL J, PETERS B, GRUND C, REIFENBERG K, MAGIN TM: Ectopic expression of desmin in the epidermis of transgenic mice permits development of a normal epidermis. Differentiation (2002) 70:56-68.
   PubMed Web of Science ®Google Scholar
• PULKKINEN L, UITTO J: Hemidesmosomal variants of epidermolysis bullosa. Mutations in the alpha6beta4 integrin and the 180-kD bullous pemphigoid antigen/type XVII collagen genes. Exp. Dermatol. (1998) 7:46-64.
   PubMed Web of Science ®Google Scholar
• MCGRATH JA, GATALICA B, CHRISTIANO AM et al.: Mutation in the gene encoding the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (type XVII), in generalized atrophic benign epidermolysis bullosa. Nat. Genet. (1995) 11:83-86.
   PubMed Web of Science ®Google Scholar
• VIDAL F, ABERDAM D, MIQUEL C et al.: Mutations in the gene for the integrin β4 subunit are associated with junctional epidermolysis bullosa with pyloric atresia. Nat. Genet. (1995) 10:229-234.
   PubMed Web of Science ®Google Scholar
• PULKKINEN L, KIMONIS VE, XU Y et al.: Homozygous α6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia. Hum. Mol. Genet. (1997) 6:669-674.
   PubMed Web of Science ®Google Scholar
• UITTO J, PULKKINEN L, SMITH FJ et al.: Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophy. Exp. Dermatol. (1996) 5:237-246.
   PubMedGoogle Scholar
• UITTO J, CHRISTIANO AM: Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene. Arch. Dermatol. Res. (1994) 287:16-22.
   PubMed Web of Science ®Google Scholar
• HEINONEN S, MANNIKKO M, KLEMENT JF, WHITAKER-MENEZES D, MURPHY GF, UITTO J: Targeted inactivation of the type VII collagen gene (Col7a1) in mice results in severe blistering phenotype: a model for recessive dystrophic epidermolysis bullosa. J. Cell Sci. (1999) 112:3641-3648.
   PubMed Web of Science ®Google Scholar
• ORTIZ-URDA S, LIN Q, GREEN CL, KEENE DR, MARINKOVICH MP, KHAVARI PA: Injection of genetically engineered fibroblasts corrects regenerated human epidermolysis bullosa skin tissue. J. Clin. Invest. (2003) 111:251-255.
   PubMed Web of Science ®Google Scholar
• WOODLEY DT, KRUEGER GG, JORGENSEN CM et al.: Normal and gene-corrected dystrophic epidermolysis bullosa fibroblasts alone can produce type VII collagen at the basement membrane zone. J. Invest. Dermatol. (2003) 121:1021-1028.
   PubMed Web of Science ®Google Scholar
• WOODLEY DT, KEENE DR, ATHA T et al.: Intradermal injection of lentiviral vectors corrects regenerated human dystrophic epidermolysis bullosa skin tissue in vivo. Mol. Ther. (2004) 10:318-326.
   PubMed Web of Science ®Google Scholar
• WOODLEY DT, KEENE DR, ATHA T et al.: Injection of recombinant human type VII collagen restores collagen function in dystrophic epidermolysis bullosa. Nat. Med. (2004) 10:693-695.
   PubMed Web of Science ®Google Scholar
• POSTERARO P, SORVILLO S, GAGNOUX-PALACIOS L et al.: Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonletal junctional epidermolysis bullosa. Biochem. Biophys. Res. Commun. (1998) 243:758-764.
   PubMed Web of Science ®Google Scholar
• DELLAMBRA E, PELLEGRINI G, GUERRA L et al.: Toward epidermal stem cell-mediated ex vivo gene therapy of junctional eidermolysis bullosa. Hum. Gene Ther. (2000) 11:2283-2287.
   PubMed Web of Science ®Google Scholar
• DEL RIO M, GACHE Y, JORCANO JL, MENEGUZZI G, LARCHER F: Current approaches and perspectives in human keratinocyte-based gene therapies. Gene Ther. (2004) 11:S57-S63.
   PubMed Web of Science ®Google Scholar
• BAUER JW, LAIMER M: Gene therapy of epidermolysis bullosa. Expert Opin. Biol. Ther. (2004) 4:1435-1443.
   PubMed Web of Science ®Google Scholar