A MODIFIED HUMAN U1SNRNA MOLECULE, A GENE ENCODING FOR THE MODIFIED HUMAN U1SNRNA MOLECULE, AN EXPRESSION VECTOR INCLUDING THE GENE, AND THE USE THEREOF IN GENE THERAPY

摘要

A modified human U1snRNA molecule is described, the target sequence of which is located in a region of the pre-mRNA of the target gene comprised between 2 and 50 base pairs downstream of an exon/intron junction site, which is capable of restoring the correct splicing of a target gene of therapeutic interest bearing a mutation which induces exon skipping and resulting in a genetic disease. Modified human U1snRNA molecules are described by way of example for the correction of diseases associated with exon skipping, such as spinal muscular atrophy, hemophilia B, and cystic fibrosis.