Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling.
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OTULIN restricts Met1-linked ubiquitination to control innate immune signalingRegulation of Met1-linked polyubiquitin signalling by the deubiquitinase OTULINRegulation of Cell Death by IAPs and Their AntagonistsNOD-Like Receptors: Master Regulators of Inflammation and CancerUbiquitin in the immune systemCancers Related to Immunodeficiencies: Update and PerspectivesCYLD Limits Lys63- and Met1-Linked Ubiquitin at Receptor Complexes to Regulate Innate Immune SignalingThe Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and AutoimmunityThe linear ubiquitin assembly complex (LUBAC) is essential for NLRP3 inflammasome activation.Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiencyNOD1 and NOD2: signaling, host defense, and inflammatory disease.BID-dependent release of mitochondrial SMAC dampens XIAP-mediated immunity against Shigella.The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiencyInflammatory Signaling by NOD-RIPK2 Is Inhibited by Clinically Relevant Type II Kinase Inhibitors.USP9X stabilizes XIAP to regulate mitotic cell death and chemoresistance in aggressive B-cell lymphoma.Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning.Immune diseases caused by mutations in kinases and components of the ubiquitin system.Met1-linked ubiquitination in immune signalling.X-linked inhibitor of apoptosis protein deficiency: more than an X-linked lymphoproliferative syndrome.Roles of linear ubiquitinylation, a crucial regulator of NF-κB and cell death, in the immune system.Nucleotide-binding oligomerization domain (NOD) signaling defects and cell death susceptibility cannot be uncoupled in X-linked inhibitor of apoptosis (XIAP)-driven inflammatory disease.How genetic testing can lead to targeted management of XIAP deficiency-related inflammatory bowel disease.Linear ubiquitin chains: enzymes, mechanisms and biologyDiverse ubiquitin linkages regulate RIP kinases-mediated inflammatory and cell death signaling.SPATA2 Links CYLD to LUBAC, Activates CYLD, and Controls LUBAC SignalingImpaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease.XIAP deficiency and MEFV variants resulting in an autoinflammatory lymphoproliferative syndrome.Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease.Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency.Nucleotide-binding oligomerization domain 1 and gastrointestinal disorders.XIAP variants in male Crohn's disease.Novel X-Linked Inhibitor of Apoptosis Mutation in Very Early-Onset Inflammatory Bowel Disease Child Successfully Treated with HLA-Haploidentical Hemapoietic Stem Cells Transplant after Removal of αβ+ T and B Cells.Epstein-Barr Virus and Hemophagocytic Lymphohistiocytosis.A RIPK2 inhibitor delays NOD signalling events yet prevents inflammatory cytokine production.Molecular modeling in the age of clinical genomics, the enterprise of the next generation.A female patient with incomplete hemophagocytic lymphohistiocytosis caused by a heterozygous XIAP mutation associated with non-random X-chromosome inactivation skewed towards the wild-type XIAP allele.A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency.A critical role for cellular inhibitor of protein 2 (cIAP2) in colitis-associated colorectal cancer and intestinal homeostasis mediated by the inflammasome and survival pathways.Inhibitor of apoptosis proteins are required for effective fusion of autophagosomes with lysosomes.Inherited Immunodeficiencies With High Predisposition to Epstein–Barr Virus-Driven Lymphoproliferative Diseases.
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P2860
Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on July 2013
@en
vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
Disease-causing mutations in t ...... 2-dependent immune signalling.
@en
Disease-causing mutations in t ...... 2-dependent immune signalling.
@nl
type
label
Disease-causing mutations in t ...... 2-dependent immune signalling.
@en
Disease-causing mutations in t ...... 2-dependent immune signalling.
@nl
prefLabel
Disease-causing mutations in t ...... 2-dependent immune signalling.
@en
Disease-causing mutations in t ...... 2-dependent immune signalling.
@nl
P2093
P2860
P50
P356
P1476
Disease-causing mutations in t ...... 2-dependent immune signalling.
@en
P2093
Berthe Katrine Fiil
Monica Yabal
Niels Mailand
Philipp J Jost
Stephan Ehl
P2860
P304
P356
10.1002/EMMM.201303090
P577
2013-07-01T00:00:00Z