Analysis of a read-through promoting compound in a severe mouse model of spinal muscular atrophy.

@article{Mattis2012AnalysisOA,
  title={Analysis of a read-through promoting compound in a severe mouse model of spinal muscular atrophy.},
  author={Virginia B. Mattis and Cheng-Wei Tom Chang and Christian L. Lorson},
  journal={Neuroscience letters},
  year={2012},
  volume={525 1},
  pages={72-5}
}
Spinal muscular atrophy (SMA) is the leading genetic cause of infantile death and caused by the loss of functional Survival Motor Neuron 1 (SMN1). The remaining copy gene, SMN2, is unable to rescue from disease because the primary gene product lacks the final coding exon, exon 7, due to an alternative splicing event. While SMNΔ7 is a rapidly degraded protein, exon 7 is not specifically required in a sequence-specific manner to confer increased functionality to this truncated protein. Based upon… CONTINUE READING