Article

Mutations in NBEAL2 do not impact Weibel-Palade body biogenesis and Von Willebrand factor secretion in Gray Platelet Syndrome Endothelial Colony Forming Cells

2022-06-08

Abstract excerpt

<h4>Background</h4> Gray Platelet Syndrome (GPS) patients with Neurobeachin-like 2 (NBEAL2) deficiency produce platelets lacking alpha-granules (AGs) and present with lifelong bleeding symptoms. AGs are lysosome-related organelles (LROs) and store the hemostatic protein Von Willebrand factor (VWF) and the transmembrane protein P-selectin. Weibel-Palade bodies (WPBs) are LROs of endothelial cells and also store VW...

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Literature Corpus work: 0ca48eed-0806-59e1-ab2b-b30249c25d76
DOI: 10.1101/2022.06.08.495181

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