Nbeal2 interacts with Dock7, Sec16a, and Vac14-Reference-Cited by-同舟云学术

Nbeal2 interacts with Dock7, Sec16a, and Vac14

Published:2018-03-01 Issue:9 Volume:131 Page:1000-1011
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Mayer Louisa¹²,Jasztal Maria¹²,Pardo Mercedes³,Aguera de Haro Salvadora¹²,Collins Janine¹²⁴,Bariana Tadbir K.¹⁵⁶,Smethurst Peter A.¹²,Grassi Luigi¹²,Petersen Romina¹²,Nurden Paquita⁷,Favier Rémi⁸⁹,Yu Lu³,Meacham Stuart¹²,Astle William J.¹⁰,Choudhary Jyoti³,Yue Wyatt W.¹¹,Ouwehand Willem H.¹²³,Guerrero Jose A.¹²

Affiliation:

1. Department of Haematology, University of Cambridge, Cambridge, United Kingdom;

2. National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;

3. Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom;

4. Department of Haematology, Barts Health National Health Service Trust, London, United Kingdom;

5. Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London NHS Foundation Trust, London, United Kingdom;

6. Department of Haematology, University College London Cancer Institute, London, United Kingdom;

7. Institut Hospitalo-Universitaire L’Institut de Rythmologie et Modelisation Cardiaque, Hopital Xavier Arnozan, Pessac, France;

8. Département d’Hématologie, Assistance-Publique Hôpitaux de Paris, Centre de Référence des Pathologies Plaquettaires, Hôpital Armand Trousseau, Paris, France;

9. INSERM, Villejuif, France;

10. Cardiovascular Epidemiology Unit of the Medical Research Council/British Heart Foundation, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom; and

11. Structural Genomics Consortium, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, United Kingdom

Abstract

Key Points Nbeal2 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.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/131/9/1000/1406544/blood800359.pdf

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