A leucine to proline mutation at position 233 in the insulin receptor inhibits cleavage of the proreceptor and transport to the cell surface.

@article{Maassen1991ALT,
  title={A leucine to proline mutation at position 233 in the insulin receptor inhibits cleavage of the proreceptor and transport to the cell surface.},
  author={Johannes A Maassen and Eric R van der Vorm and Gerard C. M. van der Zon and M. P. Klinkhamer and H. M. J. Krans and Wim M{\"o}ller},
  journal={Biochemistry},
  year={1991},
  volume={30 44},
  pages={10778-83}
}
We have previously shown that a homozygous mutation encoding a substitution of proline for leucine at position 233 in the insulin receptor is linked with the syndrome of leprechaunism, being a lethal form of insulin resistance in newborn children. Specific binding of insulin and insulin-stimulated autophosphorylation of the insulin receptor are nearly absent in fibroblasts from the leprechaun patient. To examine the molecular basis of the observed insulin receptor abnormalities, CHO cell lines… CONTINUE READING