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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10039897/
https://www.ncbi.nlm.nih.gov/pubmed/36966139
http://dx.doi.org/10.1038/s41419-023-05745-9