Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8713193 | Journal of Allergy and Clinical Immunology | 2018 | 40 Pages |
Abstract
This is the first report of a mutation in the STAT1 sumoylation motif associated with clinical disease. These data reinforce sumoylation as a key posttranslational regulatory modification of STAT1 and identify a novel mechanism for gain-of-function STAT1 disease in human subjects.
Keywords
sentrin-specific proteaseGOFSUMOGFPpStat1LOFSENPSUMOylationIFN-γIRFIP10CMCStat1loss of functionsmall ubiquitin-related modifierGain of functionMolecular dynamicsinterferon regulatory factorphycoerythrinsignal transducer and activator of transcription 1wild-typeInterferon-inducible protein 10green fluorescent proteinchronic mucocutaneous candidiasis
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Authors
Elizabeth P. MD, PhD, Li MD, Stacey R. MD, Phillip PhD, Amy P. BS, Anuj BA, Lindsey B. BS, Margery PhD, Tatyana A. BS, Elise M.N. PA, Meredith K. DO, Christa S. MD, Michail S. MD, ScD, Steven M. MD,