Mutations in the D1 domain of von Willebrand factor impair their propeptide-dependent multimerization, intracellular trafficking and secretion

• Main Authors: Yin, J, Ma, Z, Su, J, Wang, J.-W, Zhao, X, Ling, J, Bai, X, Ouyang, W, Wang, Z, Yu, Z, Ruan, C
• Other Authors: SURGERY
• Format: Article
• Published: 2020
• Subjects: dimer; oxidoreductase; protein variant; 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
• Online Access: https://scholarbank.nus.edu.sg/handle/10635/180908
• Institution: National University of Singapore

10.1186/s13045-015-0166-9