Ontology highlight
ABSTRACT:
SUBMITTER: Peking P
PROVIDER: S-EPMC5737646 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
Peking Patricia P Koller Ulrich U Duarte Blanca B Murillas Rodolfo R Wolf Susanne S Maetzig Tobias T Rothe Michael M Kocher Thomas T García Marta M Brachtl Gabriele G Schambach Axel A Larcher Fernando F Reichelt Julia J Bauer Johann W JW Murauer Eva M EM
Nucleic acids research 20170901 17
Functional impairment or complete loss of type VII collagen, caused by mutations within COL7A1, lead to the severe recessive form of the skin blistering disease dystrophic epidermolysis bullosa (RDEB). Here, we successfully demonstrate RNA trans-splicing as an auspicious repair option for mutations located in a wide range of exons by fully converting an RDEB phenotype in an ex vivo pre-clinical mouse model based on xenotransplantation. Via a self-inactivating (SIN) lentiviral vector a 3' RNA tra ...[more]