Splice modulating therapies for human disease

Cell. 2012 Mar 16;148(6):1085-8. doi: 10.1016/j.cell.2012.02.014.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Alternative Splicing
  • Animals
  • Disease / genetics*
  • Genetic Therapy*
  • Humans
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / therapy
  • Mutation
  • Neoplasms / genetics
  • Neoplasms / therapy
  • Oligonucleotides, Antisense / therapeutic use
  • Progeria / genetics
  • Progeria / therapy
  • RNA Splicing / drug effects*

Substances

  • Oligonucleotides, Antisense