Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 13, Issue 2, Pages 256-259Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/sj.ejhg.5201320
Keywords
spinal muscular atrophy; survival of motor neuron gene; phenylbutyrate
Funding
- Telethon [GGP030109] Funding Source: Medline
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Spinal muscular atrophy (SMA) is caused by insufficient levels of survival motor neuron (SMN) protein. Recently, we found that sodium 4-phenylbutyrate (PB), a well-tolerated FDA approved drug, enhances SMN gene expression in vitro. We provide here the first evidence that oral administration of PB (triButyrate(R)) significantly increases SMN expression in leukocytes of SMA patients. This finding provides a strong rationale to further investigate the effects of PB as also supported by preliminary clinical data.
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