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Published in 2018 at "Blood advances"
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…
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Keywords:
rab1b;
runx1;
golgi transport;
runx1 haplodeficiency ... See more keywords
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Published in 2023 at "Life Science Alliance"
DOI: 10.26508/lsa.202201810
Abstract: Gyurkovska et al show that whereas both Rab1A and Rab1B regulate secretion, Rab1A-HVD enables it to localize to autophagosomes and regulate autophagy. This provides a mechanism for a dual functionality of a single Rab in…
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Keywords:
secretion autophagy;
rab1a;
hypervariable domain;
secretion ... See more keywords