Role of mismatch repair enzymes in GAA·TTC triplet-repeat expansion in Friedreich ataxia induced pluripotent stem cells.

@article{Du2012RoleOM,
  title={Role of mismatch repair enzymes in GAA·TTC triplet-repeat expansion in Friedreich ataxia induced pluripotent stem cells.},
  author={Jintang Du and Erica Campau and Elisabetta Soragni and Sherman Ku and James W. Puckett and Peter B. Dervan and Joel M. Gottesfeld},
  journal={The Journal of biological chemistry},
  year={2012},
  volume={287 35},
  pages={29861-72}
}
The genetic mutation in Friedreich ataxia (FRDA) is a hyperexpansion of the triplet-repeat sequence GAA·TTC within the first intron of the FXN gene. Although yeast and reporter construct models for GAA·TTC triplet-repeat expansion have been reported, studies on FRDA pathogenesis and therapeutic development are limited by the availability of an appropriate cell model in which to study the mechanism of instability of the GAA·TTC triplet repeats in the human genome. Herein, induced pluripotent… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 40 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 53 references

Mismatch Repair in GAA TTC Triplet-repeat Expansion

  • R. Sharma, S. Bhatti, M. Gomez, R. M. Clark, C. Murray, T. Ashizawa
  • on S etem er 27,
  • 2012

Similar Papers

Loading similar papers…