Functional Correction of Type VII Collagen Expression in Dystrophic Epidermolysis Bullosa

• Published in: Journal of investigative dermatology Vol. 131; no. 1; pp. 74 - 83
• Main Authors: Murauer, Eva M., Gache, Yannick, Gratz, Iris K., Klausegger, Alfred, Muss, Wolfgang, Gruber, Christina, Meneguzzi, Guerrino, Hintner, Helmut, Bauer, Johann W.
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01.01.2011; Nature Publishing Group; Elsevier Limited
• Subjects: Alternative Splicing - genetics; Biological and medical sciences; Biopsy; Bullous diseases of the skin; Cells, Cultured; Codon, Nonsense - genetics; Collagen Type VII - genetics; Dermatology; Epidermolysis Bullosa Dystrophica - genetics; Epidermolysis Bullosa Dystrophica - pathology; Epidermolysis Bullosa Dystrophica - therapy; Genetic Therapy - methods; Humans; Keratinocytes - pathology; Keratinocytes - physiology; Medical sciences; Organ Culture Techniques; Phenotype; Retroviridae - genetics; RNA, Messenger - genetics; Transduction, Genetic - methods; Bullous dermatosis; Skin disease; Dermatology; Collagen; Genetic disease; Dystrophic epidermolysis bullosa

Functional defects in type VII collagen, caused by premature termination codons on both alleles of the COL7A1 gene, are responsible for the severe autosomal recessive types of the skin blistering disease, recessive dystrophic epidermolysis bullosa (RDEB). The full-length COL7A1 complementary DNA (cD...