Spinal muscular atrophy: A new player joins the battle for SMN2 exon 7 splicing

Simona Pedrotti, Claudio Sette

Research output: Contribution to journalArticlepeer-review


Spinal Muscular Atrophy (SMA) is a neurodegenerative disease with high impact in the human population, being the leading genetic cause of death in infancy. No cure is currently available for SMA, raising interest in the development of novel therapeutic strategies for this disease. Much of the effort in this sense has been aimed at increasing the SMN2-derived transcript levels, either by improving transcription rate or by reprogramming exon 7 splicing. Herein, we discuss recent findings on the regulation of SMN2 gene expression, focusing on splicing modulation as a tfherapeutic target. We review the literature regarding splicing factors involved in the regulation of exon 7 splicing in SMN2, and discuss the role played in this process by the RNA binding protein Sam68, a novel crucial regulator of SMN2 splicing.

Original languageEnglish
Pages (from-to)3874-3879
Number of pages6
JournalCell Cycle
Issue number19
Publication statusPublished - Oct 1 2010


  • hnRNP A1
  • Sam68
  • SMA
  • SMN2
  • Splicing regulation

ASJC Scopus subject areas

  • Cell Biology
  • Developmental Biology
  • Molecular Biology


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