title: Targeting Splicing in the Treatment of Human Disease.
abstract: 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 andtrans-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.
authors.affiliation: Department of Molecular Biology, Institute of Parasitology and Biomedicine "López Neyra" (IPBLN-CSIC), PTS, Granada 18016, Spain. marc@ipb.csic.es.|Drug Development Service, Department of Pharmacy and Pharmaceutical Technology, Faculty of Pharmacy, University of Barcelona, Avda. Joan XXIII, s/n 08028 Barcelona, Spain. marc@ipb.csic.es.
authors.forename: Marc
authors.initials: M
authors.lastname: Suñé-Pou
authors.affiliation: Department of Molecular Biology, Institute of Parasitology and Biomedicine "López Neyra" (IPBLN-CSIC), PTS, Granada 18016, Spain. silprie@ipb.csic.es.
authors.forename: Silvia
authors.initials: S
authors.lastname: Prieto-Sánchez
authors.affiliation: Department of Molecular Biology, Institute of Parasitology and Biomedicine "López Neyra" (IPBLN-CSIC), PTS, Granada 18016, Spain. sofiaboyco@ipb.csic.es.
authors.forename: Sofía
authors.initials: S
authors.lastname: Boyero-Corral
authors.affiliation: Department of Molecular Biology, Institute of Parasitology and Biomedicine "López Neyra" (IPBLN-CSIC), PTS, Granada 18016, Spain. cmcastro1988@ipb.csic.es.
authors.forename: Cristina
authors.initials: C
authors.lastname: Moreno-Castro
authors.affiliation: Department of Molecular Biology, Institute of Parasitology and Biomedicine "López Neyra" (IPBLN-CSIC), PTS, Granada 18016, Spain. younes@ipb.csic.es.
authors.forename: Younes
authors.initials: Y
authors.lastname: El Yousfi
authors.affiliation: Drug Development Service, Department of Pharmacy and Pharmaceutical Technology, Faculty of Pharmacy, University of Barcelona, Avda. Joan XXIII, s/n 08028 Barcelona, Spain. jmsune@ub.edu.
authors.forename: Josep Mª
authors.initials: JM
authors.lastname: Suñé-Negre
authors.affiliation: Department of Cell Biology and Immunology, Institute of Parasitology and Biomedicine "López Neyra" (IPBLN-CSIC), PTS, Granada 18016, Spain. chmunain@ipb.csic.es.
authors.forename: Cristina
authors.initials: C
authors.lastname: Hernández-Munain
authors.affiliation: Department of Molecular Biology, Institute of Parasitology and Biomedicine "López Neyra" (IPBLN-CSIC), PTS, Granada 18016, Spain. csune@ipb.csic.es.
authors.forename: Carlos
authors.initials: C
authors.lastname: Suñé
keywords: alternative splicing; genetic disease; precursor messenger RNA; therapy