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Functional Assessment of Disease-Associated Pyrin Variants.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2022

Chirita Daria, Jamilloux Yvan, Henry Thomas, Magnotti Flora

Abstract excerpt

The pyrin inflammasome detects effectors and toxins that inhibit RhoA GTPases and triggers inflammatory cytokines release and a fast cell death termed pyroptosis. Ancient plague pandemics in the Mediterranean basin have selected in the human population pyrin variants that can trigger an autoinflammatory disease termed familial Mediterranean fever (FMF). In addition, distinct mutations in MEFV, the gene encoding...

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PMID: 35759198
DOI: 10.1007/978-1-0716-2449-4_12

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