Defective RAB1B-related megakaryocytic ER-to-Golgi transport in RUNX1 haplodeficiency: impact on von Willebrand factor.

@article{Jalagadugula2018DefectiveRM,
  title={Defective RAB1B-related megakaryocytic ER-to-Golgi transport in RUNX1 haplodeficiency: impact on von Willebrand factor.},
  author={Gauthami S. Jalagadugula and Lawrence E. Goldfinger and Guangfen Mao and Michele P Lambert and A Koneti Rao},
  journal={Blood advances},
  year={2018},
  volume={2 7},
  pages={797-806}
}
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 protein. RAB GTPases regulate vesicle trafficking, and RAB1B is implicated in… CONTINUE READING