Combined deficiency of RAB32 and RAB38 in the mouse mimics Hermansky-Pudlak syndrome and critically impairs thrombosis

Aguilar, Alicia; Weber, Josiane; Boscher, Julie; Freund, Monique; Ziessel, Catherine; Eckly, Anita; Magnenat, Stéphanie; Bourdon, Catherine; Hechler, Béatrice; H. Mangin, Pierre; Gachet, Christian; Lanza, François; Léon, Catherine

doi:10.1182/bloodadvances.2019031286

Public

Combined deficiency of RAB32 and RAB38 in the mouse mimics Hermansky-Pudlak syndrome and critically impairs thrombosis

Shared by NobleBlocks on Aug 9, 2019 • 12:00 AM UTC

Authors:

Alicia Aguilar

Josiane Weber

Julie Boscher

Abstract

Abstract The biogenesis of lysosome related organelles is defective in Hermansky-Pudlak syndrome (HPS), a disorder characterized by oculocutaneous albinism and platelet dense granule (DG) defects. The first animal model of HPS was the fawn-hooded rat, harboring a spontaneous mutation inactivating th...

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