von Willebrand factor propeptide missense variants affect anterograde transport to Golgi resulting in ER retention
Author:
Affiliation:
1. Institute of Experimental Haematology and Transfusion Medicine University Clinics Bonn Bonn Germany
2. National Institute of Blood Disease & Bone Marrow Transplantation Karachi Pakistan
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24204
Reference57 articles.
1. Characterization ofVWFgene conversions causing von Willebrand disease
2. Characterization of the mutation spectrum in a Pakistani cohort of type 3 von Willebrand disease
3. A novel von Willebrand disease–causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion
4. Structural organization of Weibel-Palade bodies revealed by cryo-EM of vitrified endothelial cells
5. Reduced von Willebrand factor secretion is associated with loss of Weibel-Palade body formation
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1. VWF‐Gly2752Ser, a novel non‐cysteine substitution variant in the CK domain, exhibits severe secretory impairment by hampering C‐terminal dimer formation;Journal of Thrombosis and Haemostasis;2022-08
2. von Willebrand factor propeptide variants lead to impaired storage and ER retention in patient‐derived endothelial colony‐forming cells;Journal of Thrombosis and Haemostasis;2022-07
3. Genetic Alterations, DNA Methylation, Alloantibodies and Phenotypic Heterogeneity in Type III von Willebrand Disease;Genes;2022-05-28
4. A Homozygous Deep Intronic Variant Causes Von Willebrand Factor Deficiency and Lack of Endothelial-Specific Secretory Organelles, Weibel–Palade Bodies;International Journal of Molecular Sciences;2022-03-13
5. Multifaceted pathomolecular mechanism of a VWF large deletion involved in the pathogenesis of severe VWD;Blood Advances;2022-02-07
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