Intracellular Storage and Regulated Secretion of Von Willebrand Factor in Quantitative Von Willebrand Disease

Several missense mutations in the von Willebrand Factor (VWF) gene of von Willebrand disease (VWD) patients have been shown to cause impaired constitutive secretion and intracellular retention of VWF. However, the effects of those mutations on the intracellular storage in Weibel-Palade bodies (WPBs)...

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Veröffentlicht in:	The Journal of biological chemistry 2011-07, Vol.286 (27), p.24180-24188
Hauptverfasser:	Wang, Jiong-Wei, Valentijn, Karine M., de Boer, Hetty C., Dirven, Richard J., van Zonneveld, Anton Jan, Koster, Abraham J., Voorberg, Jan, Reitsma, Pieter H., Eikenboom, Jeroen
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Substitution Blood Coagulation Factors Confocal Microscopy Electron Microscopy (EM) Exocytosis Genetic Diseases HEK293 Cells Hemostasis Humans Molecular Bases of Disease Mutation, Missense Protein Secretion Subcellular Organelles von Willebrand Diseases - genetics von Willebrand Diseases - metabolism Von Willebrand Factor von Willebrand Factor - genetics von Willebrand Factor - metabolism Weibel-Palade Bodies - genetics Weibel-Palade Bodies - metabolism Weibel-Palade Body
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