The α1K276E startle disease mutation reveals multiple intermediate states in the gating of glycine receptors.

@article{Lape2012TheS,
  title={The α1K276E startle disease mutation reveals multiple intermediate states in the gating of glycine receptors.},
  author={Remigijus Lape and Andrew J. R. Plested and Mirko Moroni and David Colquhoun and Lucia G Sivilotti},
  journal={The Journal of neuroscience : the official journal of the Society for Neuroscience},
  year={2012},
  volume={32 4},
  pages={1336-52}
}
Loss-of-function mutations in human glycine receptors cause hyperekplexia, a rare inherited disease associated with an exaggerated startle response. We have studied a human disease mutation in the M2-M3 loop of the glycine receptor α1 subunit (K276E) using direct fitting of mechanisms to single-channel recordings with the program HJCFIT. Whole-cell recordings from HEK293 cells showed the mutation reduced the receptor glycine sensitivity. In single-channel recordings, rat homomeric α1 K276E… CONTINUE READING