RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology - Aix-Marseille Université Access content directly
Journal Articles International Journal of Molecular Sciences Year : 2020

RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology

Abstract

RasGRP2 is calcium and diacylglycerol-regulated guanine nucleotide exchange factor I that activates Rap1, which is an essential signaling-knot in "inside-out" αIIbβ3 integrin activation in platelets. Inherited platelet function disorder caused by variants of RASGRP2 represents a new congenital bleeding disorder referred to as platelet-type bleeding disorder-18 (BDPLT18). We review here the structure of RasGRP2 and its functions in the pathophysiology of platelets and of the other cellular types that express it. We will also examine the different pathogenic variants reported so far as well as strategies for the diagnosis and management of patients with BDPLT18.
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hal-03162242 , version 1 (08-03-2021)

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Matthias Canault, Marie-Christine Alessi. RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology. International Journal of Molecular Sciences, 2020, 21 (3), pp.1075. ⟨10.3390/ijms21031075⟩. ⟨hal-03162242⟩
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