Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-Tooth disease type 2E.

@article{Dequen2010ReversalON,
  title={Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-Tooth disease type 2E.},
  author={Florence Dequen and M. Maskani Filali and Roxanne C. Larivi{\`e}re and Rodolphe Perrot and Shin-ichi Hisanaga and Jean-Pierre Julien},
  journal={Human molecular genetics},
  year={2010},
  volume={19 13},
  pages={2616-29}
}
Mutations in the gene encoding for the neurofilament light subunit (NF-L) are responsible for Charcot-Marie-Tooth (CMT) neuropathy type 2E. To address whether CMT2E disease is potentially reversible, we generated a mouse model with conditional doxycycline-responsive gene system that allows repression of mutant hNF-LP22S transgene expression in adult neurons. The hNF-LP22S;tTa transgenic (tg) mice recapitulated key features of CMT2E disease, including aberrant hindlimb posture, motor deficits… CONTINUE READING

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