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Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients.

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Published:1st Feb 2005
Author: Brahe C, Vitali T, Tiziano FD, Angelozzi C, Pinto AM, Borgo F et al.
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Ref.:Eur J Hum Genet. 2005;13(2):256-9.
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.

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