Article
Endoplasmic reticulum retention and prolonged association of a von Willebrand's disease-causing von Willebrand factor variant with ERp57 and calnexin.
Biochemical and biophysical research communications - 19 Jan 2001
Allen S, Goodeve A C, Peake I R, Daly M E
Abstract excerpt
We have previously identified a mutation (R273W) in the von Willebrand factor (VWF) propeptide that results in quantitative deficiency of plasma VWF and a loss of high molecular weight VWF multimers. Recombinant VWF having the R273W mutation (rVWFR273W) expressed in COS-7 cells demonstrated severely impaired secretion and degradation in an intracellular location [Allen, S., et al. (2000) Blood 96, 560-568]. In...
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