Functional Characterization of the VWF p.Cys2163Tyr Variant Reveals Impaired Secretion and Intracellular Processing.

doi:10.3390/biom16081088

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Article

Functional Characterization of the VWF p.Cys2163Tyr Variant Reveals Impaired Secretion and Intracellular Processing.

Biomolecules - 25 Jul 2026

Zhang Yuxin, Zhang Yingkun, Yang Aizhen, Zuo Yabei, Yan Xiaofeng, Zhang Feifei, Wang Yan, Niu Zhiyun, Chen Fengwu, Wu Yi, Zhang Jingyu

Abstract excerpt

Von Willebrand disease (VWD) is the most common inherited bleeding disorder, yet the contribution of specific VWF domains to its pathogenesis remains incompletely understood. In particular, the role of the D4 domain in VWF secretion, intracellular maturation, and multimer formation has not been fully elucidated. Here, we investigated the functional impact of a heterozygous p.Cys2163Tyr variant located in the D4...

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PMID: 42650756
DOI: 10.3390/biom16081088
PMCID: PMC13510912

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