Recessive dystrophic epidermolysis bullosa: Advances in the laboratory leading to new therapies

Journal of Investigative Dermatology

Volumn 135, Issue 7, 2015, Pages 1705-1707

  Woodley, David T ^a   Chen, Mei ^a  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 7; GENTAMICIN; LENTIVIRUS VECTOR; ANTIINFECTIVE AGENT; COL7A1 PROTEIN, HUMAN;

ALLOGENIC BONE MARROW TRANSPLANTATION; AUTOGRAFT; DERMIS; DERMOEPIDERMAL JUNCTION; DNA PACKAGING; EDITORIAL; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EXTRACELLULAR SPACE; FIBROBLAST; GENE EXPRESSION; GENE THERAPY; HUMAN; IMMUNOSUPPRESSIVE TREATMENT; KERATINOCYTE; NONHUMAN; PRIORITY JOURNAL; RARE DISEASE; RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA; SKIN INJURY; WOUND HEALING; AUTOLOGOUS HEMATOPOIETIC STEM CELL TRANSPLANTATION; CELL THERAPY; CELLULAR DISTRIBUTION; CLO7A1 GENE; COLLAGEN FIBRIL; GENE; GENE MUTATION; GENETIC CODE; LABORATORY; RECESSIVE EPIDERMOLYSIS BULLOSA DYSTROPHICA; SKIN AUTOGRAFT; VIRAL GENE THERAPY; ALLOGRAFT; ANIMAL; COHORT ANALYSIS; DISEASE MODEL; FEMALE; GENETIC PREDISPOSITION; GENETICS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; MALE; MOUSE; MUTATION; PROCEDURES; PROGNOSIS; RECESSIVE GENE; RISK ASSESSMENT; SEVERITY OF ILLNESS INDEX; TREATMENT OUTCOME;

ALLOGRAFTS; ANIMALS; ANTI-BACTERIAL AGENTS; COHORT STUDIES; COLLAGEN TYPE VII; DISEASE MODELS, ANIMAL; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FEMALE; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; GENETIC THERAPY; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; LABORATORIES; MALE; MICE; MUTATION; PROGNOSIS; RARE DISEASES; RISK ASSESSMENT; SEVERITY OF ILLNESS INDEX; TREATMENT OUTCOME;

EID: 84931091893     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2015.149     Document Type: Editorial

References (16)

1. Chen M, Marinkovich MP, Veis A, et al. (1997) Interactions of the aminoterminal noncollagenous (NC1) domain of type VII collagen with extracellular matrix components: a potential role in epidermal-dermal adherence in human skin. J Biol Chem 272:14516-22
2. Chen M, Marinkovich MP, Jones JJ, et al. (1999) NC1 domain of type VII collagen binds to the b3 chain of laminin 5 via a unique sub-domain within the fibronectin-like repeats. J Invest Dermatol 112:177-83
3. Chen M, Keene DR, Chan LS, et al. (2002) Restoration of type VII collagen expression and function in dystrophic epidermolysis bullosa. Nat Genet 32:670-5
4. Cogan J, Weinstein J, Wang XY, et al. (2014) Aminoglycosides restore fulllength type VII collagen by overcoming premature termination codons: therapeutic implications for dystrophic epidermolysis bullosa. Mol Ther 22:1741-52
5. Fine JD, Bruckner-Tuderman L, Eady RA, et al. (2014) Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol 70:1103-26
6. Ortiz-Urda S, Lin Q, Green CL, et al. (2003) Injection of genetically engineered fibroblasts corrects regenerated human epidermolysis bullosa skin. J Clin Invest 111:251-5
7. Remington J, Wang XY, Hou YP, et al. (2009) Injection of recombinant human type VII collagen corrects the disease phenotype in a murine model of dystrophic epidermolysis bullosa. Mol Ther 17:26-33
8. Venugopal SS, Yan W, Frew JW, et al. (2013) A phase II randomized vehiclecontrolled trial of intradermal allogeneic fibroblasts for recessive dystrophic epidermolysis bullosa. J Am Acad Dermatol 69:898-908
9. Wagner JE, Ishida-Yamamoto A, McGrath JA, et al. (2010) Bone marrow transplantation for recessive dystrophic epidermolysis bullosa. N Engl J Med 363:629-39
10. Wang XY, Ghasri P, Aimr M, et al. (2013) Topical application of recombinant type VII collagen promotes wound closure and corrects recessive dystrophic epidermolysis bullosa. Mol Ther 21:1335-44
11. Wong T, Gammon L, Liu L, et al. (2008) Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa. J Invest Dermatol 128:2179-89
12. Woodley DT, Krueger GG, Fairley JA, et al. (2003) Normal and gene-corrected dystrophic epidermolysis bullosa fibroblasts alone can produce type VII collagen at the basement membrane zone. J Invest Dermatol 121:1021-8
13. Woodley DT, Atha T, Huang Y, et al. (2004) Injection of recombinant human type VII collagen restores type VII collagen expression and function in dystrophic epidermolysis bullosa in vivo. Nat Med 10:693-5
14. Woodley DT, Remington J, Huang Y, et al. (2007) Intravenously injected human fibroblasts home to skin wounds, deliver type VII collagen and promote wound healing. Mol Ther 15:628-35
15. Woodley DT, Wang X, Amir M, et al. (2013a) Intravenously injected recombinant human type VII collagen homes to skin wounds and restores skin integrity of dystrophic epidermolysis bullosa. J Invest Dermatol 133:1910-3
16. Woodley DT, Cogan J, Wang XY, et al. (2013b) De novo anti-Type VII collagen antibodies in patients with recessive dystrophic epidermolysis bullosa J Invest Dermatol 134:1138-40