STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation

Signal transducer and activator of transcription (STAT1)1 gain of function (GOF) pathogenic variants have been associated with increased levels of phosphorylated STAT1 and STAT1-dependent cellular responses. Delayed dephosphorylation was proposed as the underlying mechanism leading to the characteri...

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Bibliographic Details
Main Authors: Ofer Zimmerman, Peter Olbrich, Alexandra F. Freeman, Lindsey B. Rosen, Gulbu Uzel, Christa S. Zerbe, Sergio D. Rosenzweig, Hye Sun Kuehn, Kevin L. Holmes, David Stephany, Li Ding, Elizabeth P. Sampaio, Amy P. Hsu, Steven M. Holland
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-07-01
Series:Frontiers in Immunology
Subjects:
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2019.01433/full