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Article

Mutations in the B30.2 and the central helical scaffold domains of pyrin differentially affect inflammasome activation.

Cell death & disease - 25 Mar 2023

Chirita Daria, Bronnec Pauline, Magnotti Flora, Dalmon Sarah, Martin Amandine, Popoff Michel, Gerfaud-Valentin Mathieu, Sève Pascal, Belot Alexandre, Contis Anne, Duquesne Agnes, Nocturne Gaetane, Lemelle Irene, Georgin-Lavialle Sophie, Boursier Guilaine, Touitou Isabelle, Jamilloux Yvan, Henry Thomas

Abstract excerpt

Familial Mediterranean Fever (FMF) is the most common monogenic autoinflammatory disorder. FMF is caused by mutations in the MEFV gene, encoding pyrin, an inflammasome sensor. The best characterized pathogenic mutations associated with FMF cluster in exon 10. Yet, mutations have been described along the whole MEFV coding sequence. Exon 10 encodes the B30.2 domain of the pyrin protein, but the function of this...

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PMID: 36966139
DOI: 10.1038/s41419-023-05745-9
PMCID: PMC10039897

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