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Article

Correction of VWF multimerization in type 2A/IIC von Willebrand disease by exogenous VWF propeptide supplementation.

Molecular therapy : the journal of the American Society of Gene Therapy - 3 Dec 2025

Zhang Ziqi, Liang Qian, Xu Xiaoqian, Li Yang, Chen Changming, Ding Qiulan, Zhou Aiwu, Wu Wenman, Wang Xuefeng, Dai Jing

Abstract excerpt

Gene therapy remains the only cure for von Willebrand disease (VWD), but it is limited by the large von Willebrand factor (VWF) gene size. Variants affecting the VWF propeptide (VWFpp) impair multimerization, causing type 2A/IIC VWD. VWFpp serves as a pH-sensitive template for VWF multimer assembly, suggesting that in trans VWFpp supplementation may restore multimerization in VWF variants with defective...

Topics

von Willebrand Factor
Animals
Humans
Mice
von Willebrand Disease, Type 2
Protein Multimerization
Disease Models, Animal
Mice, Transgenic
Mutation
Genetic Therapy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Vectors

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Open in PubMed Open full text

Identifiers

PMID: 40958414
DOI: 10.1016/j.ymthe.2025.09.027
PMCID: PMC12703184

Genes

VWF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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