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For many years, our laboratory has been investigating basic mechanisms used during the expression of genetic information, in particular in those steps that are embraced by the term 'RNA processing'.
The experiences gained in this research have allowed us to develop tools to interfere with the process of alternative splicing. These tools have a therapeutic potential in the treatment of various inherited diseases. Besides continuing to define gene expression mechanisms, our current research focuses on the fatal neuromuscular disease Spinal Muscular Atrophy (SMA).
mRNA 3' end processing, histone genes, polyadenylation, alternative splicing, snRNPs, U7 snRNA, splicing modulation, exon skipping, exon inclusion, Spinal Muscular Atrophy, neuromuscular junction