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Updated: Aug 17, 2026

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
Published on: May 11, 2018
The spliceosome: a novel multi-faceted target for therapy
Jamal Tazi1, Sébastien Durand, Philippe Jeanteur
1Institut de Génétique Moléculaire de Montpellier (IGMM), UMR 5535, IFR 122, Centre National de Recherche Scientifique (CNRS), France. tazi@igmm.cnrs.fr
Abstract:
The spliceosome is a dynamic and flexible ribonucleoprotein enzyme that removes intronic sequences in a regulated manner. Spliceosome action enables one stretch of genomic DNA sequence to yield several mRNAs that encode different proteins. It depends on a flexible mechanism for selecting splice sites, which calls for regulatory sequences (splicing enhancers or silencers) recognized by cognate trans-acting protein factors and constitutive ribonucleoprotein devices to build up the catalytic core. The identification of both types of elements now offers a comprehensive insight into how the spliceosome is adapted to carry out the removal of different introns and suggests novel therapeutic targets to, ultimately, restore a physiological pattern of alternatively spliced variants in a large repertoire of pathologies.
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