Small Molecule Approaches to Upregulate SMN Expression From the SMN2 Locus

J. J. Cherry, A. N. Calder, K. J. Hodgetts, E. J. Androphy

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations

Abstract

Spinal muscular atrophy (SMA) is one of the most frequent heritable causes of infant mortality, which causes progressive muscle weakness and primarily targets proximal muscles. There is currently no pharmacologic treatment for SMA. The breakthrough discovery that the survival motor neuron 2 (. SMN2) gene in SMA was found to encode for normal SMN protein prompted high-throughput library screenings for small molecules that could increase SMN2-derived SMN protein. This chapter presents each series of compounds discovered in the context of the approaches used and the mechanism of action. The chapter also examines the rationale for each selection of compounds, how these were identified, and how these have progressed to date.

Original languageEnglish (US)
Title of host publicationSpinal Muscular Atrophy
Subtitle of host publicationDisease Mechanisms and Therapy
PublisherElsevier Inc.
Pages283-299
Number of pages17
ISBN (Electronic)9780128036860
ISBN (Print)9780128036853
DOIs
StatePublished - Jan 1 2017

Keywords

  • Drug treatment
  • SMN2 splicing
  • Spinal muscular atrophy

ASJC Scopus subject areas

  • Medicine(all)
  • Neuroscience(all)

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