modified human u1snrna molecule, a gene encoding the modified human u1snrna molecule, an expression vector including the gene, and their use in gene therapy

摘要

modified human u1snrna molecule, a gene encoding the modified human u1snrna molecule, an expression vector including the gene, and their use in gene therapy. A modified human human molecule is described, the target sequence of which is located in a pre-mRNA region of the target gene comprised between 2 and 50 base pairs downstream of an exon / intron junction site, which is capable of to restore the correct junction of a target gene of therapeutic interest by carrying a mutation that induces exon skipping and resulting in a genetic disease. Modified human molecules are described by way of example for the correction of diseases associated with exon jumping, such as spinal muscular atrophy, hemophilia b, and cystic fibrosis.