Ser-752 arrow right Pro mutation in the cytoplasmic domain of integrin beta sub(3) subunit and defective activation of platelet integrin alpha sub(IIb) beta sub(3) (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia

• Published in: Proceedings of the National Academy of Sciences - PNAS Vol. 89; no. 21; pp. 10169 - 10173
• Main Authors: Chen, Yi-Ping, Djaffar, I, Pidard, D, Steiner, B, Cieutat, A-M, Caen, J P, Rosa, J-P
• Format: Journal Article
• Language: English
• Published: 01-01-1992
• Subjects: Glanzmann's thrombasthenia; identification; integrin; man; mutation; platelets; proline; serine; substitution
• ISSN: 0027-8424

Integrins are membrane receptors which mediate cell-cell or cell-matrix adhesion. Integrin alpha sub(IIb) beta sub(3) (glycoprotein IIb-IIIa) acts as a fibrinogen receptor of platelets and mediates platelet aggregation. Platelet activation is required for alpha sub(IIb) beta sub(3) to shift from noncompetent to competent for binding soluble fibrinogen. The steps involved in this transition are poorly understood. We have studied a variant of Glanzmann thrombasthenia, a congenital bleeding disorder characterized by absence of platelet aggregation and fibrinogen binding.