Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies.

@article{Fecto2011MutantTT,
  title={Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies.},
  author={Faisal A Wahed Fecto and Yong Shi and Rafiq Huda and Marco Martina and Teepu Siddique and Han-xiang Deng},
  journal={The Journal of biological chemistry},
  year={2011},
  volume={286 19},
  pages={17281-91}
}
Mutations in TRPV4 have been linked to three distinct axonal neuropathies. However, the pathogenic mechanism underlying these disorders remains unclear. Both gain and loss of calcium channel activity of the mutant TRPV4 have been suggested. Here, we show that the three previously reported TRPV4 mutant channels have a physiological localization and display an increased calcium channel activity, leading to increased cytotoxicity in three different cell types. Patch clamp experiments showed that… CONTINUE READING

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