Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model

@inproceedings{Brendel2010ReadthroughON,
  title={Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model},
  author={Cornelia M Brendel and Valery Belakhov and Hauke B Werner and Eike Wegener and Jutta Gaertner and Igor Nudelman and Timor Baasov and Peter Huppke},
  booktitle={Journal of Molecular Medicine},
  year={2010}
}
Thirty-five percent of patients with Rett syndrome carry nonsense mutations in the MECP2 gene. We have recently shown in transfected HeLa cells that readthrough of nonsense mutations in the MECP2 gene can be achieved by treatment with gentamicin and geneticin. This study was performed to test if readthrough can also be achieved in cells endogenously expressing mutant MeCP2 and to evaluate potentially more effective readthrough compounds. A mouse model was generated carrying the R168X mutation… CONTINUE READING

From This Paper

Figures, tables, results, connections, and topics extracted from this paper.
33 Extracted Citations
28 Extracted References
Similar Papers

Citing Papers

Publications influenced by this paper.
Showing 1-10 of 33 extracted citations

Referenced Papers

Publications referenced by this paper.
Showing 1-10 of 28 references

Similar Papers

Loading similar papers…