Article
Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathy.
Human gene therapy - 1 Dec 2012
Gualandi Francesca, Manzati Elisa, Sabatelli Patrizia, Passarelli Chiara, Bovolenta Matteo, Pellegrini Camilla, Perrone Daniela, Squarzoni Stefano, Pegoraro Elena, Bonaldo Paolo, Ferlini Alessandra
Abstract excerpt
Collagen VI gene mutations cause Ullrich and Bethlem muscular dystrophies. Pathogenic mutations frequently have a dominant negative effect, with defects in collagen VI chain secretion and assembly. It is agreed that, conversely, collagen VI haploinsufficiency has no pathological consequences. Thus, RNA-targeting approaches aimed at preferentially inactivating the mutated COL6 messenger may represent a promising...
Topics
- Cells, Cultured
- Collagen Type VI
- Exons
- Extracellular Matrix
- Fibroblasts
- Genes, Dominant
- Humans
- Muscular Dystrophies
- Mutation
- Nonsense Mediated mRNA Decay
- Oligoribonucleotides, Antisense
- Polymorphism, Single Nucleotide