RAB31-Mediated Endosomal Trafficking Is Defective in RUNX1 Haplodeficiency

Conclusions: These studies provide the first evidence that RAB31 is a direct transcriptional target of RUNX1 and a mechanism for RAB31 downregulation in RUNX1 haplodeficient patients. Downregulation of RAB31 or RUNX1 results in impaired endosomal maturation/trafficking, and this may contribute to the defective handling of α-granule proteins recognized in patients with RUNX1 mutations.DisclosuresLambert: Sysmex: Consultancy; Rigel: Consultancy; Bayer: Membership on an entity's Board of Directors or advisory committees; Educational Concepts in Medicine: Consultancy; CSL: Consultancy; Novartis: Membership on an entity's Board of Directors or advisory committees; Summus: Consultancy; Amgen: Membership on an entity's Board of Directors or advisory committees; Shionogi: Consultancy.

Source: Blood - November 21, 2018 Category: Hematology Authors: Jalagadugula, G. S., Mao, G., Goldfinger, L. E., Wurtzel, J., Lambert, M. P., Rao, A. K. Tags: 311. Disorders of Platelet Number or Function: New Insights into the Production and Function of Platelets Source Type: research