ArticleBlood2013
Abnormal megakaryocyte development and platelet function in Nbeal2(-/-) mice.
Article in Blood, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed, 122 citations in OpenAlex.
- Gray platelet syndrome as a multisystem disorder: immune dysregulation, autoimmunity, and metabolic abnormalities.Annals of hematology · 2026Article
- Platelet α-granule cargo packaging and endocytosis are important for normal mouse skin wound healing.Blood advances · 2026Article
- Epigenome-Wide Association Study in Asian Cohort Identifies Novel DNA Methylation Markers for Carotid Intima-Media Thickness.Research square · 2026Article
- Nbeal2 Inactivation Triggers Abl1 Stabilisation and Dysregulated Subcellular Localisation of the Multi-Drug-Resistant Protein MDR1 (ABCB1) in Mast Cells.Immunology · 2026Article
- Epigenome-Wide Association Study in Asian Cohort Identifies Novel DNA Methylation Markers for Carotid Intima-Media Thickness.medRxiv : the preprint server for health sciences · 2025Article
- Nbeal2 knockout mice are not protected against hypoxia-induced pulmonary vascular remodeling and pulmonary hypertension.Blood advances · 2025Article
- The winding road to platelet α-granules.Frontiers in cell and developmental biology · 2025Review
- Clinical and Molecular Characteristics of Megakaryocytes in Myelodysplastic Syndrome.Global medical genetics · 2024Article
- NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells.Nature communications · 2023Article
- Sorting nexin 24 is required for α-granule biogenesis and cargo delivery in megakaryocytes.Haematologica · 2022Article
- The RNA-binding protein SRSF3 has an essential role in megakaryocyte maturation and platelet production.Blood · 2022Article
- Multimerin 1 supports platelet function in vivo and binds to specific GPAGPOGPX motifs in fibrillar collagens that enhance platelet adhesion.Journal of thrombosis and haemostasis : JTH · 2021Article
- Neutrophil specific granule and NETosis defects in gray platelet syndrome.Blood advances · 2021Article
- A Deep Dive into the Pathology of Gray Platelet Syndrome: New Insights on Immune Dysregulation.Journal of blood medicine · 2021Review
- Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.Blood · 2020Article
- Dominant negative Gfi1b mutations cause moderate thrombocytopenia and an impaired stress thrombopoiesis associated with mild erythropoietic abnormalities in mice.Haematologica · 2020Article
- Review
- Profiling the eicosanoid networks that underlie the anti- and pro-thrombotic effects of aspirin.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2020Article
- Platelet α-granules are required for occlusive high-shear-rate thrombosis.Blood advances · 2020Article
- Genetic platelet depletion is superior in platelet transfusion compared to current models.Haematologica · 2020Article
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Authors and funding
12 authors at 5 institutions in 2 countries.
Funding
Abstract
Gray platelet syndrome (GPS) is an inherited bleeding disorder associated with macrothrombocytopenia and α-granule-deficient platelets. GPS has been linked to loss of function mutations in NEABL2 (neurobeachin-like 2), and we describe here a murine GPS model, the Nbeal2(-/-) mouse. As in GPS, Nbeal2(-/-) mice exhibit splenomegaly, macrothrombocytopenia, and a deficiency of platelet α-granules and their cargo, including von Willebrand factor (VWF), thrombospondin-1, and platelet factor 4. The platelet α-granule membrane protein P-selectin is expressed at 48% of wild-type levels and externalized upon platelet activation. The presence of P-selectin and normal levels of VPS33B and VPS16B in Nbeal2(-/-) platelets suggests that NBEAL2 acts independently of VPS33B/VPS16B at a later stage of α-granule biogenesis. Impaired Nbeal2(-/-) platelet function was shown by flow cytometry, platelet aggregometry, bleeding assays, and intravital imaging of laser-induced arterial thrombus formation. Microscopic analysis detected marked abnormalities in Nbeal2(-/-) bone marrow megakaryocytes, which when cultured showed delayed maturation, decreased survival, decreased ploidy, and developmental abnormalities, including abnormal extracellular distribution of VWF. Our results confirm that α-granule secretion plays a significant role in platelet function, and they also indicate that abnormal α-granule formation in Nbeal2(-/-) mice has deleterious effects on megakaryocyte survival, development, and platelet production.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.