Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients

Christina Brahe; Tiziana Vitali; Francesco D. Tiziano; Carla Angelozzi; Anna Maria Pinto; Federica Borgo; Umberto Moscato; Enrico Bertini; Eugenio Mercuri; Giovanni Neri

doi:10.1038/sj.ejhg.5201320

Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients

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

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	256-259
Number of pages	4
Journal	European Journal of Human Genetics
Volume	13
Issue number	2
DOIs	https://doi.org/10.1038/sj.ejhg.5201320
Publication status	Published - Feb 2005

Keywords

Phenylbutyrate
Spinal muscular atrophy
Survival of motor neuron gene

ASJC Scopus subject areas

Genetics(clinical)

Access to Document

10.1038/sj.ejhg.5201320

Fingerprint Dive into the research topics of 'Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients'. Together they form a unique fingerprint.

Cite this

Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients. / Brahe, Christina; Vitali, Tiziana; Tiziano, Francesco D.; Angelozzi, Carla; Pinto, Anna Maria; Borgo, Federica; Moscato, Umberto; Bertini, Enrico; Mercuri, Eugenio; Neri, Giovanni.

In: European Journal of Human Genetics, Vol. 13, No. 2, 02.2005, p. 256-259.

Research output: Contribution to journal › Article › peer-review

@article{43d93cc3d3ab43dca616fff137fce5b5,

title = "Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients",

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{\textregistered}) 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.",

keywords = "Phenylbutyrate, Spinal muscular atrophy, Survival of motor neuron gene",

author = "Christina Brahe and Tiziana Vitali and Tiziano, {Francesco D.} and Carla Angelozzi and Pinto, {Anna Maria} and Federica Borgo and Umberto Moscato and Enrico Bertini and Eugenio Mercuri and Giovanni Neri",

year = "2005",

month = feb,

doi = "10.1038/sj.ejhg.5201320",

language = "English",

volume = "13",

pages = "256--259",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

number = "2",

}

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 -