Mutations in Neurobeachin-like 2 do not impact Weibel-Palade body biogenesis and von Willebrand factor secretion in gray platelet syndrome Endothelial Colony Forming Cells

BACKGROUND: Patients with gray platelet syndrome (GPS) and Neurobeachin-like 2 (NBEAL2) deficiency produce platelets lacking alpha-granules (AGs) and present with lifelong bleeding symptoms. AGs are lysosome-related organelles and store the hemostatic protein von Willebrand factor (VWF) and the tran...

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Detalles Bibliográficos
Autores principales: Kat, Marije, van Moort, Iris, Bürgisser, Petra E., Kuijpers, Taco W., Hofman, Menno, Favier, Marie, Favier, Rémi, Margadant, Coert, Voorberg, Jan, Bierings, Ruben
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10009729/
https://www.ncbi.nlm.nih.gov/pubmed/36923710
http://dx.doi.org/10.1016/j.rpth.2023.100086

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