[HTML][HTML] Biogenesis of Weibel-Palade bodies in von Willebrand's disease variants with impaired von Willebrand factor intrachain or interchain disulfide bond formation
haematologica, 2012•ncbi.nlm.nih.gov
Background Mutations of cysteine residues in von Willebrand factor are known to reduce the
storage and secretion of this factor, thus leading to reduced antigen levels. However, one
cysteine mutation, p. Cys2773Ser, has been found in patients with type 2A (IID) von
Willebrand's disease who have normal plasma levels of von Willebrand factor. We
hypothesize that disruption of either intra-or interchain disulfide bonds by cysteine mutations
in von Willebrand factor has different effects on the biogenesis of Weibel-Palade bodies.
storage and secretion of this factor, thus leading to reduced antigen levels. However, one
cysteine mutation, p. Cys2773Ser, has been found in patients with type 2A (IID) von
Willebrand's disease who have normal plasma levels of von Willebrand factor. We
hypothesize that disruption of either intra-or interchain disulfide bonds by cysteine mutations
in von Willebrand factor has different effects on the biogenesis of Weibel-Palade bodies.
Abstract
Background
Mutations of cysteine residues in von Willebrand factor are known to reduce the storage and secretion of this factor, thus leading to reduced antigen levels. However, one cysteine mutation, p. Cys2773Ser, has been found in patients with type 2A (IID) von Willebrand’s disease who have normal plasma levels of von Willebrand factor. We hypothesize that disruption of either intra-or interchain disulfide bonds by cysteine mutations in von Willebrand factor has different effects on the biogenesis of Weibel-Palade bodies.
ncbi.nlm.nih.gov
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