Article
Correction of a dominant-negative von Willebrand factor multimerization defect by small interfering RNA-mediated allele-specific inhibition of mutant von Willebrand factor.
Journal of thrombosis and haemostasis : JTH - 1 Jul 2018
de Jong A, Dirven R J, Oud J A, Tio D, van Vlijmen B J M, Eikenboom J
Abstract excerpt
Essentials Substitution therapy for von Willebrand (VW) disease leaves mutant VW factor (VWF) unhindered. Presence of mutant VWF may negatively affect phenotypes despite treatment. Inhibition of VWF by allele-specific siRNAs targeting single-nucleotide polymorphisms is effective. Allele-specific inhibition of VWF p.Cys2773Ser improves multimerization. SUMMARY: Background Treatment of the bleeding disorder von...
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