Defective acid hydrolase secretion in RUNX1 haplodeficiency: Evidence for a global platelet secretory defect
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DOI: 10.1111/hae.13280
Abstract: RUNX1 haplodeficiency is associated with thrombocytopenia, platelet dysfunction and a predisposition to acute leukaemia. Platelets possess three distinct types of granules and secretory processes involving dense granules (DG), α‐granules and vesicles or lysosomes containing acid… read more here.
Keywords: runx1 haplodeficiency; secretory; runx1; acid ... See more keywords
RAB31-Mediated Endosomal Trafficking Is Defective in RUNX1 Haplodeficiency
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DOI: 10.1182/blood-2018-99-118312
Abstract: RAB GTPases are key players in vesicle trafficking, granule targeting of proteins, granule biogenesis and secretion. RAB31 (Ras-related protein 31) has been implicated in the regulation of vesicular trafficking between the Golgi/TGN and endosomes, and… read more here.
Keywords: runx1 haplodeficiency; runx1; rab31; role ... See more keywords
Defective RAB1B-related megakaryocytic ER-to-Golgi transport in RUNX1 haplodeficiency: impact on von Willebrand factor.
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DOI: 10.1182/bloodadvances.2017014274
Abstract: Patients with RUNX1 haplodeficiency have thrombocytopenia, platelet dysfunction, and deficiencies of α-granules and dense granules. Platelet expression profiling of a patient with a heterozygous RUNX1 mutation (c.969-323G>T) revealed decreased RAB1B, which encodes a small G… read more here.
Keywords: rab1b; runx1; golgi transport; runx1 haplodeficiency ... See more keywords