title: Splice modulating therapies for human disease.
abstract: Dysregulation of splicing and alternative splicing underlies many genetic and acquired diseases. We present an overview of recent strategies and successes in modulating splicing therapeutically in clinical and preclinical contexts. Effective approaches include restoring open reading frames, influencing alternative splicing, and inducing exon inclusion to generate beneficial proteins and remove deleterious ones.
authors.affiliation: Department of Human Genetics, Leiden University Medical Center, 2300 RC Leiden, The Netherlands.
authors.forename: Pietro
authors.initials: P
authors.lastname: Spitali
authors.forename: Annemieke
authors.initials: A
authors.lastname: Aartsma-Rus
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D004194:Disease / Q000235:genetics*; D015316:Genetic Therapy; D006801:Humans; D009136:Muscular Dystrophies / Q000235:genetics / Q000628:therapy; D009154:Mutation; D009369:Neoplasms / Q000235:genetics / Q000628:therapy; D016376:Oligonucleotides, Antisense / Q000627:therapeutic use; D011371:Progeria / Q000235:genetics / Q000628:therapy; D012326:RNA Splicing / Q000187:drug effects*
chemical_list: D016376:Oligonucleotides, Antisense