Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients
Open Access
- 3 November 2004
- journal article
- clinical trial
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 13 (2) , 256-259
- https://doi.org/10.1038/sj.ejhg.5201320
Abstract
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®) 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.Keywords
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