Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.
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Numb activates the E3 ligase Itch to control Gli1 function through a novel degradation signalStructure of a novel phosphotyrosine-binding domain in Hakai that targets E-cadherinUbiquitylation as a Rheostat for TCR Signaling: From Targeted Approaches Toward Global ProfilingUbiquitin in the immune systemRIP2 activity in inflammatory disease and implications for novel therapeuticsItch is required for lateral line development in zebrafishMechanism-Based Strategies for the Management of Autoimmunity and Immune Dysregulation in Primary ImmunodeficienciesAdvantages of Extracellular Ubiquitin in Modulation of Immune ResponsesGenetics of inflammatory bowel disease from multifactorial to monogenic formsGenetic mapping and exome sequencing identify variants associated with five novel diseasesGenetics and pathogenesis of inflammatory bowel diseaseE3 Ubiquitin Ligases Neurobiological Mechanisms: Development to DegenerationImmune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases.A splice site variant in the bovine RNF11 gene compromises growth and regulation of the inflammatory response.A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.When ubiquitination meets phosphorylation: a systems biology perspective of EGFR/MAPK signalling.Inhibition of RIP2's tyrosine kinase activity limits NOD2-driven cytokine responses.Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.Regulation of T cell receptor complex-mediated signaling by ubiquitin and ubiquitin-like modificationsItch E3 ubiquitin ligase positively regulates TGF-β signaling to EMT via Smad7 ubiquitination.Gene/cell therapy approaches for Immune Dysregulation Polyendocrinopathy Enteropathy X-linked syndrome.Comparative distribution of protein components of the A20 ubiquitin-editing complex in normal human brain.Itch WW Domains Inhibit Its E3 Ubiquitin Ligase Activity by Blocking E2-E3 Ligase Trans-thiolation.p63 threonine phosphorylation signals the interaction with the WW domain of the E3 ligase ItchA discrete ubiquitin-mediated network regulates the strength of NOD2 signaling.Ndfip-mediated degradation of Jak1 tunes cytokine signalling to limit expansion of CD4+ effector T cellsFemale mice with loss-of-function ITCH display an altered reproductive phenotypeUbiquitin e3 ligase itch negatively regulates osteoblast differentiation from mesenchymal progenitor cellsThe emerging role of the ubiquitin proteasome in pulmonary biology and disease.Ubiquitin E3 ligase Itch negatively regulates osteoclast formation by promoting deubiquitination of tumor necrosis factor (TNF) receptor-associated factor 6.Emerging therapies targeting the ubiquitin proteasome system in cancerDe novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic featuresNew molecular targets for the treatment of sarcoidosis.Ndfip1 mediates peripheral tolerance to self and exogenous antigen by inducing cell cycle exit in responding CD4+ T cells.Ubiquitin E3 ligase Itch negatively regulates osteoblast function by promoting proteasome degradation of osteogenic proteinsUbiquitination and phosphorylation in the regulation of NOD2 signaling and NOD2-mediated diseaseCrosstalk between kinases and Nedd4 family ubiquitin ligases.Multifaceted role of the ubiquitin ligase Itch in immune regulation.The E3 ligase Itch in immune regulation and beyond.
P2860
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P2860
Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.
description
2010 nî lūn-bûn
@nan
2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Human ITCH E3 ubiquitin ligase ...... ultisystem autoimmune disease.
@ast
Human ITCH E3 ubiquitin ligase ...... ultisystem autoimmune disease.
@en
type
label
Human ITCH E3 ubiquitin ligase ...... ultisystem autoimmune disease.
@ast
Human ITCH E3 ubiquitin ligase ...... ultisystem autoimmune disease.
@en
prefLabel
Human ITCH E3 ubiquitin ligase ...... ultisystem autoimmune disease.
@ast
Human ITCH E3 ubiquitin ligase ...... ultisystem autoimmune disease.
@en
P2093
P2860
P1476
Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease
@en
P2093
D Holmes Morton
Erik G Puffenberger
Kevin A Strauss
Kudakwashe R Chikwava
Naomi J Lohr
Nicholas L Rider
Oscar W Cummings
Robert H Squires
Wilfredo Torres-Martinez
P2860
P304
P356
10.1016/J.AJHG.2010.01.028
P407
P577
2010-02-18T00:00:00Z