Characterisation of human iPS cells harbouring the p.A329T variant of caspase-1
نویسندگان
چکیده
Introduction Naturally occurring genetic variants of the CASP1 gene are associated with autoinflammation in patients suffering from recurrent febrile episodes and generalized inflammation. The resulting caspase-1 variants have reduced enzymatic activity due to destabilization of the caspase-1 tetramer. In addition, autoprocessing of the pro-caspase-1 variants is reduced and hence, CARDCARD interactions with RIP2, enabling NFkB activation, is enhanced in a cell culture model.
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