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

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 the small g...

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Bibliografische gegevens
Gepubliceerd in:Blood Adv
Hoofdauteurs: Aguilar, Alicia, Weber, Josiane, Boscher, Julie, Freund, Monique, Ziessel, Catherine, Eckly, Anita, Magnenat, Stéphanie, Bourdon, Catherine, Hechler, Béatrice, Mangin, Pierre H., Gachet, Christian, Lanza, François, Léon, Catherine
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Society of Hematology 2019
Onderwerpen:
Platelets and Thrombopoiesis
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6693013/
https://ncbi.nlm.nih.gov/pubmed/31399401
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/bloodadvances.2019031286
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