Glanzmann Thrombasthenia (GT) is a congenital recessive hemorrhagic disorder characterized by the absence of platelet aggregation to multiple physiologic agonists caused by the qualitative or quantitative abnormality of the αIIbβ3 receptor on platelets. It can be caused by mutations either in the β3 or in the αIIb gene. In our laboratory we study the molecular biology of GT: the identification of the molecular biological abnormalities responsible for the disease has important implications in term of identifications of critical residues for integrin biogenesis, degradation, association and activation.
We generated a β3 knockout mouse as a model of GT and to assess the role of β3 containing integrin receptors (αIIbβ3 and αVβ3) in thrombosis and other disease process (sickle cell disease, tumor angiogenesis, stroke, atherosclerosis, intimal hyperplasia after vascular injury).
An internet database of clinical, biochemical, and mutation information on patients with Glanzmann thrombasthenia is maintained by Deborah L. French at the Mount Sinai School of Medicine, New York, NY and Alan Nurden at the Hôpital Cardiologique, Pessac, France.