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A small-molecule inhibitor of the NLRP3 inflammasome for the treatment of inflammatory diseases.

artículo científico publicado en 2015

Aberrant actin depolymerization triggers the pyrin inflammasome and autoinflammatory disease that is dependent on IL-18, not IL-1β.

artículo científico publicado en 2015

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.

artículo científico publicado en 2018

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

scientific journal article

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

artículo científico publicado en 2016

Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis

scientific article published on 29 June 2020

Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease

scientific journal article

Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease

artículo científico publicado en 2017

Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome

artículo científico publicado en 2010

Connecting two pathways through Ca 2+ signaling: NLRP3 inflammasome activation induced by a hypermorphic PLCG2 mutation

artículo científico publicado en 2015

De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases

artículo científico publicado en 2002

Early-onset stroke and vasculopathy associated with mutations in ADA2

artículo científico publicado en 2014

Familial Mediterranean fever with a single MEFV mutation: where is the second hit?

artículo científico publicado en 2009

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease

artículo científico publicado en 2015

Microarray-based gene expression profiling in patients with cryopyrin-associated periodic syndromes defines a disease-related signature and IL-1-responsive transcripts

artículo científico publicado en 2012

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

scientific article published on 11 December 2019

NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy

artículo científico publicado en 2017

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

article

Prostaglandin E2 Inhibits NLRP3 Inflammasome Activation through EP4 Receptor and Intracellular Cyclic AMP in Human Macrophages

artículo científico publicado en 2015

The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production

artículo científico publicado en 2006

The Pyrin Inflammasome in Health and Disease

scientific article published on 07 August 2019

The Yersinia Virulence Factor YopM Hijacks Host Kinases to Inhibit Type III Effector-Triggered Activation of the Pyrin Inflammasome

artículo científico publicado en 2016

The calcium-sensing receptor regulates the NLRP3 inflammasome through Ca2+ and cAMP.

artículo científico publicado en 2012

The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations

artículo científico publicado en 2003

The familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF-kappaB through its N-terminal fragment

artículo científico publicado en 2008