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Valproic acid increases SMN levels in spinal muscular atrophy patient cells

โœ Scribed by Charlotte J. Sumner; Thanh N. Huynh; Jennifer A. Markowitz; J. Stephen Perhac; Brenna Hill; Daniel D. Coovert; Kristie Schussler; Xiaocun Chen; Jill Jarecki; Arthur H. M. Burghes; J. Paul Taylor; Kenneth H. Fischbeck

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
734 KB
Volume
54
Category
Article
ISSN
0364-5134

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## Abstract ## Objective Spinal muscular atrophy results from loss of the survival motor neuron 1 (__SMN1__) gene and malfunction of the remaining __SMN2__. We investigated whether valproic acid can elevate human __SMN__ expression in vivo. ## Methods Blood was collected from 10 spinal muscular

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## Communicated by Mark H. Paalman The autosomal recessive spinal muscular atrophy (SMA), a neuromuscular disease and frequent cause of early death in childhood, is caused in 96% of patients by homozygous absence of the survival motor neuron gene (SMN1). The severity of the disease is mainly deter