Overcoming obstacles for gene therapy for recessive dystrophic epidermolysis bullosa

Journal of Investigative Dermatology

Volumn 131, Issue 1, 2011, Pages 5-

  Lanuti, Emma L ^a   Wikramanayake, Tongyu C ^a   Kirsner, Robert S ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 7;

AUTOSOMAL RECESSIVE DISORDER; EPIDERMOLYSIS BULLOSA; GENE EXPRESSION; GENE MUTATION; GENE THERAPY; KERATINOCYTE; NOTE; PHENOTYPE; PRIORITY JOURNAL; RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA; RNA SPLICING;

EID: 78650258484     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2010.356     Document Type: Article

References (6)

1. Chen M, O'Toole EA, Muellenhoff M et al. (2000) Development and characterization of a recombinant truncated type VII collagen "minigene." Implication for gene therapy of dystrophic epidermolysis bullosa. J Biol Chem 275:24429-35
2. Fine JD, Johnson LB, Suchindran C et al. (1999) Cancer and inherited epidermolysis bullosa: lifetable analyses of the national epidermolysis bullosa registry study population. In: Fine JD, Bauer EA, McGuire J et al. (eds), Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances and the Findings of the National Epidermolysis Bullosa Registry. Baltimore, MD: Johns Hopkins University Press, 175-92
3. Goto M, Sawamura D, Nishie W et al. (2006) Targeted skipping of a single exon harboring a premature termination codon mutation: implications and potential for gene correction therapy for selective dystrophic epidermolysis bullosa patients. J Invest Dermatol 126:2614-20
4. Murauer EM, Gache Y, Gratz IK et al. (2011) Functional correction of type VII collagen expression in dystrophic epidermolysis bullosa. J Invest Dermatol 131:74-83
5. Wally V, Klausegger A, Koller U et al. (2008) 5' trans-Splicing repair of the PLEC1 gene. J Invest Dermatol 128:568-74
6. 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