Defective lysosomal targeting of activated fibroblast growth factor receptor 3 in achondroplasia.

@article{Cho2004DefectiveLT,
  title={Defective lysosomal targeting of activated fibroblast growth factor receptor 3 in achondroplasia.},
  author={Jay Y Cho and Changsheng Guo and Monica Torello and Gregory P Lunstrum and Tomoko Iwata and Chu-Xia Deng and William A Horton},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2004},
  volume={101 2},
  pages={609-14}
}
Mutations of fibroblast growth factor receptor 3 (FGFR3) are responsible for achondroplasia (ACH) and related dwarfing conditions in humans. The pathogenesis involves constitutive activation of FGFR3, which inhibits proliferation and differentiation of growth plate chondrocytes. Here we report that activating mutations in FGFR3 increase the stability of the receptor. Our results suggest that the mutations disrupt c-Cbl-mediated ubiquitination that serves as a targeting signal for lysosomal… CONTINUE READING