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DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling.
Harapas CR, Robinson KS, Lay K, Wong J, Moreno Traspas R, Nabavizadeh N, Rass-Rothschild A, Boisson B, Drutman SB, Laohamonthonkul P, Bonner D, Xiong JR, Gorrell MD, Davidson S, Yu CH, Fleming MD, Gudera J, Stein J, Ben-Harosh M, Groopman E, Shimamura A, Tamary H, Kayserili H, Hatipoğlu N, Casanova JL, Bernstein JA, Zhong FL, Masters SL, Reversade B. Harapas CR, et al. Among authors: lay k. Sci Immunol. 2022 Sep 16;7(75):eabi4611. doi: 10.1126/sciimmunol.abi4611. Epub 2022 Sep 16. Sci Immunol. 2022. PMID: 36112693 Free PMC article.
Structural basis for distinct inflammasome complex assembly by human NLRP1 and CARD8.
Gong Q, Robinson K, Xu C, Huynh PT, Chong KHC, Tan EYJ, Zhang J, Boo ZZ, Teo DET, Lay K, Zhang Y, Lim JSY, Goh WI, Wright G, Zhong FL, Reversade B, Wu B. Gong Q, et al. Among authors: lay k. Nat Commun. 2021 Jan 8;12(1):188. doi: 10.1038/s41467-020-20319-5. Nat Commun. 2021. PMID: 33420028 Free PMC article.
Human NLRP1 is a sensor of pathogenic coronavirus 3CL proteases in lung epithelial cells.
Planès R, Pinilla M, Santoni K, Hessel A, Passemar C, Lay K, Paillette P, Valadão AC, Robinson KS, Bastard P, Lam N, Fadrique R, Rossi I, Pericat D, Bagayoko S, Leon-Icaza SA, Rombouts Y, Perouzel E, Tiraby M; COVID Human Genetic Effort; Zhang Q, Cicuta P, Jouanguy E, Neyrolles O, Bryant CE, Floto AR, Goujon C, Lei FZ, Martin-Blondel G, Silva S, Casanova JL, Cougoule C, Reversade B, Marcoux J, Ravet E, Meunier E. Planès R, et al. Among authors: lay k. Mol Cell. 2022 Jul 7;82(13):2385-2400.e9. doi: 10.1016/j.molcel.2022.04.033. Epub 2022 May 16. Mol Cell. 2022. PMID: 35594856 Free PMC article.
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.
Moreno Traspas R, Teoh TS, Wong PM, Maier M, Chia CY, Lay K, Ali NA, Larson A, Al Mutairi F, Al-Sannaa NA, Faqeih EA, Alfadhel M, Cheema HA, Dupont J, Bézieau S, Isidor B, Low DY, Wang Y, Tan G, Lai PS, Piloquet H, Joubert M, Kayserili H, Kripps KA, Nahas SA, Wartchow EP, Warren M, Bhavani GS, Dasouki M, Sandoval R, Carvalho E, Ramos L, Porta G, Wu B, Lashkari HP, AlSaleem B, BaAbbad RM, Abreu Ferrão AN, Karageorgou V, Ordonez-Herrera N, Khan S, Bauer P, Cogne B, Bertoli-Avella AM, Vincent M, Girisha KM, Reversade B. Moreno Traspas R, et al. Among authors: lay k. Nat Genet. 2022 Aug;54(8):1214-1226. doi: 10.1038/s41588-022-01120-0. Epub 2022 Jul 21. Nat Genet. 2022. PMID: 35864190 Free PMC article.
103 results