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Article

Upshaw-Schulman syndrome-associated ADAMTS13 variants possess proteolytic activity at the surface of endothelial cells and in simulated circulation.

PloS one - 1 Jan 2020

Letzer Anton, Lehmann Katja, Mess Christian, König Gesa, Obser Tobias, Peine Sven, Schneppenheim Sonja, Budde Ulrich, Schneider Stefan W, Schneppenheim Reinhard, Brehm Maria A

Abstract excerpt

ADAMTS13 regulates the hemostatic activity of von Willebrand factor (VWF). Determined by static assays, proteolytic activity <10IU/dL in patient plasma, in absence of ADAMTS13 autoantibodies, indicates Upshaw-Schulman syndrome (USS); the congenital form of Thrombotic Thrombocytopenic Purpura (TTP). We have recently functionally characterized sixteen USS-associated ADAMTS13 missense variants under static...

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Identifiers

PMID: 32365113
DOI: 10.1371/journal.pone.0232637
PMCID: PMC7197795

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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