[HTML][HTML] Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients
C Brahe, T Vitali, FD Tiziano, C Angelozzi… - European Journal of …, 2005 - nature.com
European Journal of Human Genetics, 2005•nature.com
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.
(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.
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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