CADASIL-causing mutations do not alter Notch3 receptor processing and activation.

@article{Low2006CADASILcausingMD,
  title={CADASIL-causing mutations do not alter Notch3 receptor processing and activation.},
  author={W C Low and Yo Santa and Keikichi Takahashi and Takeshi Tabira and Raj N Kalaria},
  journal={Neuroreport},
  year={2006},
  volume={17 10},
  pages={945-9}
}
CADASIL is associated with mutations in the Notch3 gene but the causal mechanisms of the disorder remain unclear. We studied effects of widely established mutations on Notch3 receptor processing and ligand-mediated activation in stable lines of HEK293 and SH-SY5Y cells expressing either human wild-type or mutant Notch3 receptor. None of the four mutations (R90C, R133C, C185R and R449C) affected quantities of the full-length, amino-terminal or carboxyl-terminal fragments and did not impair… CONTINUE READING

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