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Clinical Trial
. 2005 Feb;13(2):256-9.
doi: 10.1038/sj.ejhg.5201320.

Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients

Christina Brahe  1 , Tiziana Vitali, Francesco D Tiziano, Carla Angelozzi, Anna Maria Pinto, Federica Borgo, Umberto Moscato, Enrico Bertini, Eugenio Mercuri, Giovanni Neri
Affiliations
Clinical Trial

Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients

Christina Brahe et al. Eur J Hum Genet. 2005 Feb.

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.

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