Article
Nbeal2 interacts with Dock7, Sec16a, and Vac14.
Blood - 1 Mar 2018
Mayer Louisa, Jasztal Maria, Pardo Mercedes, Aguera de Haro Salvadora, Collins Janine, Bariana Tadbir K, Smethurst Peter A, Grassi Luigi, Petersen Romina, Nurden Paquita, Favier Rémi, Yu Lu, Meacham Stuart, Astle William J, Choudhary Jyoti, Yue Wyatt W, Ouwehand Willem H, Guerrero Jose A
Abstract excerpt
Mutations in NBEAL2, the gene encoding the scaffolding protein Nbeal2, are causal of gray platelet syndrome (GPS), a rare recessive bleeding disorder characterized by platelets lacking α-granules and progressive marrow fibrosis. We present here the interactome of Nbeal2 with additional validation by reverse immunoprecipitation of Dock7, Sec16a, and Vac14 as interactors of Nbeal2. We show that GPS-causing...
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