Structural basis for the Trembler-J phenotype of Charcot-Marie-Tooth disease.

@article{Sakakura2011StructuralBF,
  title={Structural basis for the Trembler-J phenotype of Charcot-Marie-Tooth disease.},
  author={Masayoshi Sakakura and Arina Hadziselimovic and Zhen Wang and Kevin L. Schey and Charles R Sanders},
  journal={Structure},
  year={2011},
  volume={19 8},
  pages={1160-9}
}
Mutations in peripheral myelin protein 22 (PMP22) can result in the common peripheral neuropathy Charcot-Marie-Tooth disease (CMTD). The Leu16Pro mutation in PMP22 results in misassembly of the protein, which causes the Trembler-J (TrJ) disease phenotype. Here we elucidate the structural defects present in a partially folded state of TrJ PMP22 that are decisive in promoting CMTD-causing misfolding. In this state, transmembrane helices 2-4 (TM2-4) form a molten globular bundle, while… CONTINUE READING
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