Article
Aberrant function of pathogenic STAT3 mutant proteins is linked to altered stability of monomers and homodimers.
Blood - 23 Mar 2023
Kasembeli Moses M, Kaparos Efiyenia, Bharadwaj Uddalak, Allaw Ahmad, Khouri Alain, Acot Bianca, Tweardy David J
Abstract excerpt
STAT3 mutations, predominantly in the DNA-binding domain (DBD) and Src-homology 2 domain (SH2D), cause rare cases of immunodeficiency, malignancy, and autoimmunity. The exact mechanisms by which these mutations abrogate or enhance STAT3 function are not completely understood. Here, we examined how loss-of-function (LOF) and gain-of-function (GOF) STAT3 mutations within the DBD and SH2D affect monomer and...
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