Article
The novel S527F mutation in the integrin beta3 chain induces a high affinity alphaIIbbeta3 receptor by hindering adoption of the bent conformation.
The Journal of biological chemistry - 29 May 2009
Vanhoorelbeke Karen, De Meyer Simon F, Pareyn Inge, Melchior Chantal, Plançon Sebastien, Margue Christiane, Pradier Olivier, Fondu Pierre, Kieffer Nelly, Springer Timothy A, Deckmyn Hans
Abstract excerpt
Three heterozygous mutations were identified in the genes encoding platelet integrin receptor alphaIIbbeta3 in a patient with an ill defined platelet disorder: one in the beta3 gene (S527F) and two in the alphaIIb gene (R512W and L841M). Five stable Chinese hamster ovary cell lines were constructed expressing recombinant alphaIIbbeta3 receptors bearing the individual R512W, L841M, or S527F mutation; both the...
Topics
- Adult
- Amino Acid Substitution
- Animals
- Antibodies
- Binding Sites
- Blood Platelet Disorders
- CHO Cells
- Cell Membrane
- Cricetinae
- Cricetulus