Journal
FUTURE MEDICINAL CHEMISTRY
Volume 6, Issue 9, Pages 1081-1099Publisher
FUTURE SCI LTD
DOI: 10.4155/FMC.14.63
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Funding
- National Institutes of Health [NS055925, NS072259, NS080294]
- Salsbury Endowment (Iowa State University, IA, USA)
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Spinal muscular atrophy (SMA) is a leading genetic cause of infant mortality. The disease originates from low levels of SMN protein due to deletion and/or mutations of SMN1 coupled with the inability of SMN2 to compensate for the loss of SMN1. While SMN1 and SMN2 are nearly identical, SMN2 predominantly generates a truncated protein (SMN.7) due to skipping of exon 7, the last coding exon. Several avenues for SMA therapy are being explored, including means to enhance SMN2 transcription, correct SMN2 exon 7 splicing, stabilize SMN/SMN.7 protein, manipulate SMN-regulated pathways and SMN1 gene delivery by viral vectors. This review focuses on the aspects of target discovery, validations and outcome measures for a promising therapy of SMA.
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