Readthrough of nonsense mutation W822X in the SCN5A gene can effectively restore expression of cardiac Na+ channels.

@article{Teng2009ReadthroughON,
  title={Readthrough of nonsense mutation W822X in the SCN5A gene can effectively restore expression of cardiac Na+ channels.},
  author={Siyong Teng and Lizhi Gao and Vesa Paajanen and Jielin Pu and Zheng Fan},
  journal={Cardiovascular research},
  year={2009},
  volume={83 3},
  pages={473-80}
}
AIMS Nonsense mutations in the SCN5A gene result in truncated, non-functional derivatives of the cardiac Na+ channel and thus cause arrhythmias. Studies of other genes suggest that pathogenic phenotypes of nonsense mutations may be alleviated by enhancing readthrough, which enables ribosomes to ignore premature termination codons and produce full-length proteins. Thus, we studied the functional restoration of nonsense-mutated SCN5A. METHODS AND RESULTS HEK293 cells were transfected with SCN5A… CONTINUE READING
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