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• W2146223217 abstract "Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder caused by homozygous absence of the survival motor neuron gene (<i>SMN1</i>). All patients have at least one, usually two to four copies of the related <i>SMN2</i> gene which, however, produce insufficient levels of functional SMN protein due to the exclusion of exon 7 in the majority of <i>SMN2</i> transcripts. Here, we show that salbutamol, a β2-adrenoceptor agonist, determines a rapid and significant increase in <i>SMN2</i>-full length mRNA and SMN protein in SMA fibroblasts, predominantly by promoting exon 7 inclusion in <i>SMN2</i> transcripts. These data, together with previous clinical findings, provide a strong rationale to investigate further the clinical efficacy of salbutamol in SMA patients." @default.
• W2146223217 created "2016-06-24" @default.
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• W2146223217 date "2007-10-26" @default.
• W2146223217 modified "2023-09-30" @default.
• W2146223217 title "Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells" @default.
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• W2146223217 doi "https://doi.org/10.1136/jmg.2007.051177" @default.
• W2146223217 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17932121" @default.
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