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Genes 2017, 8(3), 87;

Targeting Splicing in the Treatment of Human Disease

Department of Molecular Biology, Institute of Parasitology and Biomedicine “López Neyra” (IPBLN-CSIC), PTS, Granada 18016, Spain
Drug Development Service, Department of Pharmacy and Pharmaceutical Technology, Faculty of Pharmacy, University of Barcelona, Avda. Joan XXIII, s/n 08028 Barcelona, Spain
Department of Cell Biology and Immunology, Institute of Parasitology and Biomedicine “López Neyra” (IPBLN-CSIC), PTS, Granada 18016, Spain
Author to whom correspondence should be addressed.
Academic Editors: Susan Fletcher and Steve Wilton
Received: 16 December 2016 / Revised: 14 February 2017 / Accepted: 17 February 2017 / Published: 24 February 2017
(This article belongs to the Special Issue Therapeutic Alternative Splicing: Mechanisms and Applications)
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The tightly regulated process of precursor messenger RNA (pre-mRNA) alternative splicing (AS) is a key mechanism in the regulation of gene expression. Defects in this regulatory process affect cellular functions and are the cause of many human diseases. Recent advances in our understanding of splicing regulation have led to the development of new tools for manipulating splicing for therapeutic purposes. Several tools, including antisense oligonucleotides and trans-splicing, have been developed to target and alter splicing to correct misregulated gene expression or to modulate transcript isoform levels. At present, deregulated AS is recognized as an important area for therapeutic intervention. Here, we summarize the major hallmarks of the splicing process, the clinical implications that arise from alterations in this process, and the current tools that can be used to deliver, target, and correct deficiencies of this key pre-mRNA processing event. View Full-Text
Keywords: alternative splicing; precursor messenger RNA; therapy; genetic disease alternative splicing; precursor messenger RNA; therapy; genetic disease

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Suñé-Pou, M.; Prieto-Sánchez, S.; Boyero-Corral, S.; Moreno-Castro, C.; El Yousfi, Y.; Suñé-Negre, J.M.; Hernández-Munain, C.; Suñé, C. Targeting Splicing in the Treatment of Human Disease. Genes 2017, 8, 87.

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