Mutations in tau gene exon 10 associated with FTDP-17 alter the activity of an exonic splicing enhancer to interact with Tra2 beta.

@article{Jiang2003MutationsIT,
  title={Mutations in tau gene exon 10 associated with FTDP-17 alter the activity of an exonic splicing enhancer to interact with Tra2 beta.},
  author={Zhihong Jiang and Hao Tang and Necat Havlioglu and Xiaochun Zhang and Stefan Stamm and Riqiang Yan and Jane Y. Wu},
  journal={The Journal of biological chemistry},
  year={2003},
  volume={278 21},
  pages={18997-9007}
}
Mutations in the human tau gene leading to aberrant splicing have been identified in FTDP-17, an autosomal dominant hereditary neurodegenerative disorder. Molecular mechanisms by which such mutations cause tau aberrant splicing were not understood. We characterized two mutations in exon 10 of the tau gene, N279K and Del280K. Our results revealed an exonic splicing enhancer element located in exon 10. The activity of this AG-rich splicing enhancer was altered by N279K and Del280K mutations. This… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 42 extracted citations

References

Publications referenced by this paper.
Showing 1-2 of 2 references

Exonic Splicing Enhancer and Neurodegenerative Disorder

  • R. Daoud, G. Mies, A. Smialowska, L. Olah, K. A. Hossmann, S. Stamm
  • J. Neurosci. 22,
  • 2002

2739–2746 2 S. Stamm, unpublished results. Exonic Splicing Enhancer and Neurodegenerative Disorder

  • D. G. Drubin, M. W. Kirschner
  • J. Cell Biol
  • 1986

Similar Papers

Loading similar papers…