Article

A systematic approach to understanding how patient variants affect the activity of Wiskott-Aldrich syndrome protein

2026-05-21

Abstract excerpt

Wiskott-Aldrich syndrome (WAS) and X-linked neutropenia (XLN) are caused by genetic variants in the WAS gene. How WAS variants lead to clinical disease remains unsolved in many cases. We expressed human WASp using a spider silk inspired solubility tag (NT*-tag) and inserted patient’s variants. Native mass spectrometry and pyrene actin assays showed that five variants (L270P, F271S, S272P, I290T, I294T) predicted...

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Literature Corpus work: e8e3db00-bdc2-537a-b549-33392c01fe7d
DOI: 10.64898/2026.05.19.726146

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