Ontology highlight
ABSTRACT:
SUBMITTER: van Oorschot R
PROVIDER: S-EPMC6601108 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
van Oorschot Rinske R Hansen Marten M Koornneef Johanna M JM Marneth Anna E AE Bergevoet Saskia M SM van Bergen Maaike G J M MGJM van Alphen Floris P J FPJ van der Zwaan Carmen C Martens Joost H A JHA Vermeulen Michiel M Jansen Pascal W T C PWTC Baltissen Marijke P A MPA Gorkom Britta A P Laros-van BAPL Janssen Hans H Jansen Joop H JH von Lindern Marieke M Meijer Alexander B AB van den Akker Emile E van der Reijden Bert A BA
Haematologica 20190117 7
Dominant-negative mutations in the transcription factor Growth Factor Independence-1B (GFI1B), such as GFI1B<sup>Q287*</sup>, cause a bleeding disorder characterized by a plethora of megakaryocyte and platelet abnormalities. The deregulated molecular mechanisms and pathways are unknown. Here we show that both normal and Q287* mutant GFI1B interacted most strongly with the lysine specific demethylase-1 - REST corepressor - histone deacetylase (LSD1-RCOR-HDAC) complex in megakaryoblasts. Sequestra ...[more]