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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate.

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 atrophy carriers and 20 spinal muscular atrophy patients treated with valproic acid. RESULTS: Seven of 10 carriers demonstrated increased SMN messenger RNA and protein levels. SMN2 messenger RNA levels were elevated in 7 patients and unchanged or decreased in 13 patients. INTERPRETATION: We provide first proof of the in vivo activation of a causative gene by valproic acid in an inherited disease and discuss strategies of monitoring drug response in patients.[1]

References

  1. In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate. Brichta, L., Holker, I., Haug, K., Klockgether, T., Wirth, B. Ann. Neurol. (2006) [Pubmed]
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