title: Overview on applications of antisense-mediated exon skipping.
abstract: Antisense-mediated exon skipping has multiple therapeutic applications. This chapter gives an overview of how this tool has been employed to restore normal splicing for cryptic splicing mutations, to switch between alternative splicing isoforms, to induce exon inclusion, to correct the reading frame to allow the production of internally deleted proteins, or to induce reading frame disruptions to achieve partial protein knockdown. For each application, examples are discussed and the current state of the art is described.
authors.affiliation: Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Willeke M C
authors.initials: WM
authors.lastname: van Roon-Mom
authors.forename: Annemieke
authors.initials: A
authors.lastname: Aartsma-Rus
mesh_terms: D000818:Animals; D005091:Exons; D015316:Genetic Therapy / Q000379:methods*; D006801:Humans; D009154:Mutation; D016376:Oligonucleotides, Antisense / Q000627:therapeutic use*; D012326:RNA Splicing
chemical_list: D016376:Oligonucleotides, Antisense