Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients |
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| Authors: | Brahe Christina Vitali Tiziana Tiziano Francesco D Angelozzi Carla Pinto Anna Maria Borgo Federica Moscato Umberto Bertini Enrico Mercuri Eugenio Neri Giovanni |
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| Affiliation: | Istituto di Genetica Medica, Università Cattolica S Cuore, Largo F Vito, 1, 00168 Rome, Italy. cbrahe@rm.unicatt.it |
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| 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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