A semi‐automated ASC speck assay to evaluate pyrin inflammasome activation

Abstract Objective To develop a rapid functional assay to validate variants of uncertain significance (VUS) in the MEFV gene. Methods Overactivity of the pyrin inflammasome pathway and ASC speck oligomerisation in response to stimulation with low concentrations of Clostridium difficile toxin A was d...

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Hlavní autoři:	Pei Dai, Oliver Skinner, Xufeng Lin, Aiden Telfser, Stephanie Ruiz‐Diaz, Rohit G Saldanha, Katie Frith, Ming‐Wei Lin, Kahn Preece, Paul E Gray, Alberto Pinzon‐Charry, Anna Sullivan, Stephen Adelstein, Winnie WY Tong, Matthew JS Parker, Laila Girgis, Brynn Wainstein, Samar Ojami, Elissa K Deenick, Leonard D Goldstein, Michael J Rogers, Tri Giang Phan
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Wiley 2025-01-01
Edice:	Clinical & Translational Immunology
Témata:	ASC speck functional testing inflammasome MEFV pyrin VUS
On-line přístup:	https://doi.org/10.1002/cti2.70054
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