Article
K14 mRNA reprogramming for dominant epidermolysis bullosa simplex.
Human molecular genetics - 1 Dec 2010
Wally Verena, Brunner Marietta, Lettner Thomas, Wagner Martin, Koller Ulrich, Trost Andrea, Murauer Eva M, Hainzl Stefan, Hintner Helmut, Bauer Johann W
Abstract excerpt
The major challenge to a successful gene therapy of autosomal dominant genetic diseases is a highly efficient and specific knock-down or repair of the disease-causing allele. In epidermolysis bullosa simplex-type Dowling-Meara (EBS-DM), a single amino acid exchange in exon 1 of the keratin 14 gene (K14) triggers a severe skin phenotype, characterized by blistering of the skin and mucous membranes after minor...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.