title: Weibel-Palade bodies: a window to von Willebrand disease.
abstract: Weibel-Palade bodies (WPBs) are the storage organelles for von Willebrand factor (VWF) in endothelial cells. VWF forms multimers that assemble into tubular structures in WPBs. Upon demand, VWF is secreted into the blood circulation, where it unfolds into strings that capture platelets during the onset of primary hemostasis. Numerous mutations affecting VWF lead to the bleeding disorder von Willebrand disease. This review reports the recent findings on the effects of VWF mutations on the biosynthetic pathway of VWF and its storage in WPBs. These new findings have deepened our understanding of VWF synthesis, storage, secretion, and function.
authors: Department of Molecular Cell Biology, Section Electron Microscopy, Leiden University Medical Center, Leiden, The Netherlands.
authors: K M
authors: KM
authors: Valentijn
authors: J
authors: J
authors: Eikenboom
mesh_terms: D006801:Humans; D009154:Mutation; D020302:Weibel-Palade Bodies / Q000473:pathology*; D014842:von Willebrand Diseases / Q000473:pathology*; D014841:von Willebrand Factor / Q000096:biosynthesis / Q000235:genetics
chemical_list: D014841:von Willebrand Factor