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Article

Valproic acid increases SMN levels in spinal muscular atrophy patient cells

22 Oct 2003

Abstract excerpt

Spinal muscular atrophy (SMA) is an inherited motor neuron disease caused by mutation of the telomeric copy of the survival motor neuron gene (SMN1). Although a centromeric copy of the survival motor neuron gene (SMN2) is retained in all patients with SMA, it differs from SMN1 at a critical nucleotide such that the majority of SMN2 transcripts lack exon 7 and encode an unstable, truncated protein. Here, we show...

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PMID: 14595654
DOI: 10.1002/ana.10743

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