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

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 r...

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Vydáno v:Blood Adv
Hlavní autoři: Jalagadugula, Gauthami, Goldfinger, Lawrence E., Mao, Guangfen, Lambert, Michele P., Rao, A. Koneti
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Hematology 2018
Témata:
Platelets and Thrombopoiesis
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5894258/
https://ncbi.nlm.nih.gov/pubmed/29632235
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/bloodadvances.2017014274
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