MUTANTS OF SRSF1 (ASF/SF2) FOR TREATING SPINAL MUSCULAR ATROPHY

摘要

The invention relates to non-naturally occurring proteins with a splicing factor activity that are able to facilitate the inclusion of exon 7 of the SMN1 and/or SMN2 gene into the mature mRNA. The disclosed non-naturally occurring proteins share at least 70% sequence identity with hSRSF1 (ASF/SF2) and can be used in the treatment of spinal muscular atrophy.