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A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia.
Ghevaert C, Salsmann A, Watkins NA, Schaffner-Reckinger E, Rankin A, Garner SF, Stephens J, Smith GA, Debili N, Vainchenker W, de Groot PG, Huntington JA, Laffan M, Kieffer N, Ouwehand WH. Ghevaert C, et al. Among authors: kieffer n. Blood. 2008 Apr 1;111(7):3407-14. doi: 10.1182/blood-2007-09-112615. Epub 2007 Dec 7. Blood. 2008. PMID: 18065693 Free article.
Overexpression of the partially activated alpha(IIb)beta3D723H integrin salt bridge mutant downregulates RhoA activity and induces microtubule-dependent proplatelet-like extensions in Chinese hamster ovary cells.
Schaffner-Reckinger E, Salsmann A, Debili N, Bellis J, De Mey J, Vainchenker W, Ouwehand WH, Kieffer N. Schaffner-Reckinger E, et al. Among authors: kieffer n. J Thromb Haemost. 2009 Jul;7(7):1207-17. doi: 10.1111/j.1538-7836.2009.03494.x. Epub 2009 May 22. J Thromb Haemost. 2009. PMID: 19486276 Free article.
RGD, the Rho'd to cell spreading.
Salsmann A, Schaffner-Reckinger E, Kieffer N. Salsmann A, et al. Among authors: kieffer n. Eur J Cell Biol. 2006 Apr;85(3-4):249-54. doi: 10.1016/j.ejcb.2005.08.003. Epub 2005 Sep 13. Eur J Cell Biol. 2006. PMID: 16546569 Review.
The talin rod IBS2 alpha-helix interacts with the beta3 integrin cytoplasmic tail membrane-proximal helix by establishing charge complementary salt bridges.
Rodius S, Chaloin O, Moes M, Schaffner-Reckinger E, Landrieu I, Lippens G, Lin M, Zhang J, Kieffer N. Rodius S, et al. Among authors: kieffer n. J Biol Chem. 2008 Aug 29;283(35):24212-23. doi: 10.1074/jbc.M709704200. Epub 2008 Jun 23. J Biol Chem. 2008. PMID: 18577523 Free PMC article.
J., Goormaghtigh, E., Tremuth, L., Kox, C., van der Holst, P. P., Critchley, D. R., and Kieffer, N. (2007) J. Biol. Chem. 282, 17280-17288 ). Through the combined approach of mutational analysis of the beta3 integrin cytoplasmic tail and the talin rod IBS2 site, SPR …
J., Goormaghtigh, E., Tremuth, L., Kox, C., van der Holst, P. P., Critchley, D. R., and Kieffer, N. (2007) J. Biol. Chem. 282, …
158 results