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https://doi.org/10.1186/s13045-015-0166-9
Title: | Mutations in the D1 domain of von Willebrand factor impair their propeptide-dependent multimerization, intracellular trafficking and secretion | Authors: | Yin, J Ma, Z Su, J Wang, J.-W Zhao, X Ling, J Bai, X Ouyang, W Wang, Z Yu, Z Ruan, C |
Keywords: | dimer oxidoreductase protein variant von Willebrand factor von Willebrand factor Article cell migration clinical article controlled study dimerization down regulation embryo endoplasmic reticulum enzyme activity female gene mutation genotype HEK293 cell line human human cell intracellular space male mutational analysis partial thromboplastin time protein analysis protein domain protein expression protein function protein multimerization protein secretion prothrombin time thrombin time von Willebrand disease wild type genetic transfection genetics mutation HEK293 Cells Humans Mutation Transfection von Willebrand Factor |
Issue Date: | 2015 | Citation: | Yin, J, Ma, Z, Su, J, Wang, J.-W, Zhao, X, Ling, J, Bai, X, Ouyang, W, Wang, Z, Yu, Z, Ruan, C (2015). Mutations in the D1 domain of von Willebrand factor impair their propeptide-dependent multimerization, intracellular trafficking and secretion. Journal of Hematology and Oncology 8 (1) : 73. ScholarBank@NUS Repository. https://doi.org/10.1186/s13045-015-0166-9 | Rights: | Attribution 4.0 International | Abstract: | We identified three novel mutations (p.Gly39Arg, p.Lys157Glu, p.Cys379Gly) and one previously known mutation (p.Asp141Asn) in the von Willebrand factor propeptide from three von Willebrand disease patients. All four mutations impaired multimerization of von Willebrand factor, due to reduced oxidoreductase activity of isomeric propeptide. These mutations resulted in the endothelial reticulum retention and impaired basal and stimulated secretions of von Willebrand factor. Our results support that the mutations in the D1 domain lead to defective multimerization, intracellular trafficking, and secretion of von Willebrand factor and result in bleeding of patients. © 2015 Yin et al. | Source Title: | Journal of Hematology and Oncology | URI: | https://scholarbank.nus.edu.sg/handle/10635/180908 | ISSN: | 17568722 | DOI: | 10.1186/s13045-015-0166-9 | Rights: | Attribution 4.0 International |
Appears in Collections: | Elements Staff Publications |
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