Associated Papers
A conserved core region of the scaffold NEMO is essential for signal-induced conformational change and liquid-liquid phase separation.
DiRusso CJ et al.
The Journal of Biological Chemistry, 2023
A Conserved Core Region of the Scaffold NEMO is Essential for Signal-induced Conformational Change and Liquid-liquid Phase Separation.
DiRusso CJ et al.
Biorxiv : the Preprint Server for Biology, 2023
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
Structurally plastic NEMO and oligomerization prone IKK2 subunits define the behavior of human IKK2:NEMO complexes in solution.
Ko MS et al.
Biochimica Et Biophysica Acta. Proteins and Proteomics, 2020
A Central Region of NF-κB Essential Modulator Is Required for IKKβ-Induced Conformational Change and for Signal Propagation.
Shaffer R et al.
Biochemistry, 2019
Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti.
Bal E et al.
The Journal of Allergy and Clinical Immunology, 2017
Hematopoietic stem cell transplantation for RelB deficiency.
Ovadia A et al.
The Journal of Allergy and Clinical Immunology, 2017
Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.
Miot C et al.
Blood, 2017
Recruitment of A20 by the C-terminal domain of NEMO suppresses NF-κB activation and autoinflammatory disease.
Zilberman-Rudenko J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2016
EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation.
Fusco F et al.
International Reviews of Immunology, 2015
Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency.
Kawai T et al.
Allergology International : Official Journal of the Japanese Society of Allergology, 2012
Derivation of human embryonic stem cells with NEMO deficiency.
Guan X et al.
Stem Cell Research, 2012
A novel missense mutation in the nuclear factor-κB essential modulator (NEMO) gene resulting in impaired activation of the NF-κB pathway and a unique clinical phenotype presenting as MRSA subdural empyema.
Devora GA et al.
Journal of Clinical Immunology, 2010
A mutation of Ikbkg causes immune deficiency without impairing degradation of IkappaB alpha.
Siggs OM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010
Allogeneic hematopoietic stem cell transplantation for X-linked ectodermal dysplasia and immunodeficiency: case report and review of outcomes.
Permaul P et al.
Immunologic Research, 2009
Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity.
Hanson EP et al.
The Journal of Allergy and Clinical Immunology, 2008
Allogeneic transplantation successfully corrects immune defects, but not susceptibility to colitis, in a patient with nuclear factor-kappaB essential modulator deficiency.
Pai SY et al.
The Journal of Allergy and Clinical Immunology, 2008
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.
Fusco F et al.
Human Mutation, 2008
IKBKG (nuclear factor-kappa B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function.
Salt BH et al.
The Journal of Allergy and Clinical Immunology, 2008
X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.
Filipe-Santos O et al.
The Journal of Experimental Medicine, 2006
NF-kappaB-related genetic diseases.
Courtois G et al.
Cell Death and Differentiation, 2006
Inherited disorders of human Toll-like receptor signaling: immunological implications.
Ku CL et al.
Immunological Reviews, 2005
Human disease resulting from gene mutations that interfere with appropriate nuclear factor-kappaB activation.
Orange JS et al.
Immunological Reviews, 2005
Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations.
Orange JS et al.
The Journal of Clinical Investigation, 2002