TY - JOUR
T1 - Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients
AU - Brahe, Christina
AU - Vitali, Tiziana
AU - Tiziano, Francesco D.
AU - Angelozzi, Carla
AU - Pinto, Anna Maria
AU - Borgo, Federica
AU - Moscato, Umberto
AU - Bertini, Enrico
AU - Mercuri, Eugenio
AU - Neri, Giovanni
PY - 2005/2
Y1 - 2005/2
N2 - 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.
AB - 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.
KW - Phenylbutyrate
KW - Spinal muscular atrophy
KW - Survival of motor neuron gene
UR - http://www.scopus.com/inward/record.url?scp=13544258982&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=13544258982&partnerID=8YFLogxK
U2 - 10.1038/sj.ejhg.5201320
DO - 10.1038/sj.ejhg.5201320
M3 - Article
C2 - 15523494
AN - SCOPUS:13544258982
VL - 13
SP - 256
EP - 259
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 2
ER -