Small Molecule Approaches to Upregulate SMN Expression From the SMN2 Locus

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

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Citation (Scopus)

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 - Nov 4 2016

Fingerprint

Spinal Muscular Atrophy
Up-Regulation
Small Molecule Libraries
Muscle Weakness
Infant Mortality
Motor Neurons
Proteins
Muscles
Genes

Keywords

  • Drug treatment
  • SMN2 splicing
  • Spinal muscular atrophy

ASJC Scopus subject areas

  • Medicine(all)
  • Neuroscience(all)

Cite this

Cherry, J. J., Calder, A. N., Hodgetts, K. J., & Androphy, E. (2016). Small Molecule Approaches to Upregulate SMN Expression From the SMN2 Locus. In Spinal Muscular Atrophy: Disease Mechanisms and Therapy (pp. 283-299). Elsevier Inc.. https://doi.org/10.1016/B978-0-12-803685-3.00017-3

Small Molecule Approaches to Upregulate SMN Expression From the SMN2 Locus. / Cherry, J. J.; Calder, A. N.; Hodgetts, K. J.; Androphy, Elliot.

Spinal Muscular Atrophy: Disease Mechanisms and Therapy. Elsevier Inc., 2016. p. 283-299.

Research output: Chapter in Book/Report/Conference proceedingChapter

Cherry, JJ, Calder, AN, Hodgetts, KJ & Androphy, E 2016, Small Molecule Approaches to Upregulate SMN Expression From the SMN2 Locus. in Spinal Muscular Atrophy: Disease Mechanisms and Therapy. Elsevier Inc., pp. 283-299. https://doi.org/10.1016/B978-0-12-803685-3.00017-3
Cherry JJ, Calder AN, Hodgetts KJ, Androphy E. Small Molecule Approaches to Upregulate SMN Expression From the SMN2 Locus. In Spinal Muscular Atrophy: Disease Mechanisms and Therapy. Elsevier Inc. 2016. p. 283-299 https://doi.org/10.1016/B978-0-12-803685-3.00017-3
Cherry, J. J. ; Calder, A. N. ; Hodgetts, K. J. ; Androphy, Elliot. / Small Molecule Approaches to Upregulate SMN Expression From the SMN2 Locus. Spinal Muscular Atrophy: Disease Mechanisms and Therapy. Elsevier Inc., 2016. pp. 283-299
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