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American Society of Hematology, Blood, 9(131), p. 1000-1011, 2018

DOI: 10.1182/blood-2017-08-800359

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Nbeal2 interacts with Dock7, Sec16a, and Vac14

Journal article published in 2017 by Louisa Mayer, Maria Jasztal, Mercedes Pardo, Salvadora Aguera de Haro, Janine Collins, Tadbir K. Bariana, Peter A. Smethurst, Luigi Grassi, Romina Petersen, Paquita Nurden, Rémi Favier, Lu Yu, Stuart Meacham, William J. Astle, Jyoti Choudhary and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Key PointsNbeal2 interacts with Dock7, Sec16a, and Vac14; and missense variants that cause GPS disrupt the binding of Dock7 and Vac14. The level of the α-granule protein Dock7 in platelets from Nbeal2−/− mice and GPS cases is reduced and its signaling pathway is dysregulated.