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Article

SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy

5 Oct 2015

Abstract excerpt

Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the SMN1 gene. The almost identical SMN2 gene is unable to compensate for this deficiency because of the skipping of exon 7 during pre-messenger RNA (mRNA) processing. Although several splicing factors can modulate SMN2 splicing in vitro, the physiological regulators of this...

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PMID: 26438828
DOI: 10.1083/jcb.201502059

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