Literature DB >> 15523494

Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients.

Christina Brahe1, Tiziana Vitali, Francesco D Tiziano, Carla Angelozzi, Anna Maria Pinto, Federica Borgo, Umberto Moscato, Enrico Bertini, Eugenio Mercuri, Giovanni Neri.   

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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Year:  2005        PMID： 15523494     DOI： 10.1038/sj.ejhg.5201320

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


  53 in total

Review 1.  Spinal muscular atrophy: an update on therapeutic progress.

Authors:  Joonbae Seo; Matthew D Howell; Natalia N Singh; Ravindra N Singh
Journal:  Biochim Biophys Acta       Date:  2013-08-27

Review 2.  Applicability of histone deacetylase inhibition for the treatment of spinal muscular atrophy.

Authors:  Sebastian Lunke; Assam El-Osta
Journal:  Neurotherapeutics       Date:  2013-10       Impact factor: 7.620

3.  Genetic Modifiers for Neuromuscular Diseases.

Authors:  Kay-Marie Lamar; Elizabeth M McNally
Journal:  J Neuromuscul Dis       Date:  2014

4.  A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy.

Authors:  Kristin J Krosschell; Jo Anne Maczulski; Thomas O Crawford; Charles Scott; Kathryn J Swoboda
Journal:  Neuromuscul Disord       Date:  2006-06-05       Impact factor: 4.296

5.  The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells.

Authors:  Markus Riessland; Lars Brichta; Eric Hahnen; Brunhilde Wirth
Journal:  Hum Genet       Date:  2006-05-25       Impact factor: 4.132

6.  Phenylbutyrate therapy for maple syrup urine disease.

Authors:  Nicola Brunetti-Pierri; Brendan Lanpher; Ayelet Erez; Elitsa A Ananieva; Mohammad Islam; Juan C Marini; Qin Sun; Chunli Yu; Madhuri Hegde; Jun Li; R Max Wynn; David T Chuang; Susan Hutson; Brendan Lee
Journal:  Hum Mol Genet       Date:  2010-11-23       Impact factor: 6.150

7.  Spinal muscular atrophy: advances in research and consensus on care of patients.

Authors:  Ching H Wang; Mitchell R Lunn
Journal:  Curr Treat Options Neurol       Date:  2008-11       Impact factor: 3.598

Review 8.  Beyond transcription factors: the role of chromatin modifying enzymes in regulating transcription required for memory.

Authors:  Ruth M Barrett; Marcelo A Wood
Journal:  Learn Mem       Date:  2008-06-26       Impact factor: 2.460

Review 9.  Perspectives on clinical trials in spinal muscular atrophy.

Authors:  Kathryn J Swoboda; John T Kissel; Thomas O Crawford; Mark B Bromberg; Gyula Acsadi; Guy D'Anjou; Kristin J Krosschell; Sandra P Reyna; Mary K Schroth; Charles B Scott; Louise R Simard
Journal:  J Child Neurol       Date:  2007-08       Impact factor: 1.987

Review 10.  Multiple roles of HDAC inhibition in neurodegenerative conditions.

Authors:  De-Maw Chuang; Yan Leng; Zoya Marinova; Hyeon-Ju Kim; Chi-Tso Chiu
Journal:  Trends Neurosci       Date:  2009-09-21       Impact factor: 13.837
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