A naturally occurring point mutation in the beta3 integrin MIDAS-like domain affects differently alphavbeta3 and alphaIIIbbeta3 receptor function.

@article{MorelKopp2001ANO,
  title={A naturally occurring point mutation in the beta3 integrin MIDAS-like domain affects differently alphavbeta3 and alphaIIIbbeta3 receptor function.},
  author={M C Morel-Kopp and Chantal Melchior and Ping Chen and Wim Ammerlaan and Thomas Pierre Lecompte and C{\'e}cile Kaplan and Nelly Kieffer},
  journal={Thrombosis and haemostasis},
  year={2001},
  volume={86 6},
  pages={1425-34}
}
We have investigated the effect of a new Leu196Pro mutation, identified in the MIDAS-like domain of the beta3 integrin subunit in a patient with type II Glanzmann thrombasthenia, on beta3 integrin receptor function. Expression of the mutant beta3Pro196 subunit in CHO cells, either associated with recombinant human alphaIIb or alphav, resulted in normal biosynthesis of beta3 and heterodimerization with alphav or alphaIIb, but selectively interfered with alphaIIbbeta3 maturation and transport to… CONTINUE READING