Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy-Reference-Cited by-同舟云学术

Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy

Published:2003-10-22 Issue:1 Volume:12 Page:59-65
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Andreassi Catia,Angelozzi Carla,Tiziano Francesco D,Vitali Tiziana,De Vincenzi Eleonora,Boninsegna Alma,Villanova Marcello,Bertini Enrico,Pini Antonella,Neri Giovanni,Brahe Christina

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5201102.pdf

Reference29 articles.

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2. Lorson CL, Hahnen E, Androphy EJ, Wirth B : A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci USA 1999; 96: 6307–6311.

3. Monani UR, Lorson CL, Parsons DW et al: A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN. Hum Mol Genet 1999; 8: 1177–1183.

4. McAndrew PE, Parsons DW, Simard LR et al: Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNt and SMNc gene copy number. Am J Hum Genet 1997; 69: 1411–1422.

5. Vitali T, Sossi V, Tiziano F et al: Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role of SMN2 in the modulation of disease severity in SMA patients. Hum Mol Genet 1999; 8: 2525–2532.

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