Varaico: Literature-Extracted Genetic Variants

Gene:IKBKG
Variant:p.D311N
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IKBKG

NM_001099857.5:p.D311N

Associated Papers

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_Grb2

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.

Brünger T et al.

Genome Biology, 2025

40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1

Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.

Gagoski D et al.

Biorxiv : the Preprint Server for Biology, 2025

39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_Grb2

NEMO reshapes the α-Synuclein aggregate interface and acts as an autophagy adapter by co-condensation with p62.

Furthmann N et al.

Nature Communications, 2023

Linear ubiquitination induces NEMO phase separation to activate NF-κB signaling.

Goel S et al.

Life Science Alliance, 2023

36720498 (PubMed )
Supplement: LSA-2022-01607_review_history.pdf

Co-ordinated control of the ADP-heptose/ALPK1 signalling network by the E3 ligases TRAF6, TRAF2/c-IAP1 and LUBAC.

Snelling T et al.

The Biochemical Journal, 2022

Linear ubiquitin chain-binding domains.

Fennell LM et al.

The Febs Journal, 2018

The role of hybrid ubiquitin chains in the MyD88 and other innate immune signalling pathways.

Cohen P et al.

Cell Death and Differentiation, 2017

Significance of optineurin mutations in glaucoma and other diseases.

Minegishi Y et al.

Progress in Retinal and Eye Research, 2016

Inhibition of Canonical NF-κB Signaling by a Small Molecule Targeting NEMO-Ubiquitin Interaction.

Vincendeau M et al.

Scientific Reports, 2016

Novel hypomorphic mutation in IKBKG impairs NEMO-ubiquitylation causing ectodermal dysplasia, immunodeficiency, incontinentia pigmenti, and immune thrombocytopenic purpura.

Ramírez-Alejo N et al.

Clinical Immunology (orlando, Fla.), 2015

USP18 negatively regulates NF-κB signaling by targeting TAK1 and NEMO for deubiquitination through distinct mechanisms.

Yang Z et al.

Scientific Reports, 2015

Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signaling.

Paciolla M et al.

Genes and Immunity, 2015

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

Immune diseases caused by mutations in kinases and components of the ubiquitin system.

Cohen P

Nature Immunology, 2014

Linear ubiquitination-mediated NF-κB regulation and its related disorders.

Tokunaga F

Journal of Biochemistry, 2013

The E3 ligase parkin maintains mitochondrial integrity by increasing linear ubiquitination of NEMO.

Müller-Rischart AK et al.

Molecular Cell, 2013

Pellino1 is required for interferon production by viral double-stranded RNA.

Enesa K et al.

The Journal of Biological Chemistry, 2012

Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency.

Kawai T et al.

Allergology International : Official Journal of the Japanese Society of Allergology, 2012

NEMO binds ubiquitinated TANK-binding kinase 1 (TBK1) to regulate innate immune responses to RNA viruses.

Wang L et al.

Plos One, 2012

Polyubiquitin binding to optineurin is required for optimal activation of TANK-binding kinase 1 and production of interferon β.

Gleason CE et al.

The Journal of Biological Chemistry, 2011

Disseminated BCG infection mimicking metastatic nasopharyngeal carcinoma in an immunodeficient child with a novel hypomorphic NEMO mutation.

Imamura M et al.

Journal of Clinical Immunology, 2011

New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein.

Hubeau M et al.

Blood, 2011

NF-κB essential modulator (NEMO) interaction with linear and lys-63 ubiquitin chains contributes to NF-κB activation.

Hadian K et al.

The Journal of Biological Chemistry, 2011

Polyubiquitin binding to ABIN1 is required to prevent autoimmunity.

Nanda SK et al.

The Journal of Experimental Medicine, 2011

Novel cross-talk within the IKK family controls innate immunity.

Clark K et al.

The Biochemical Journal, 2011

DARPin-assisted crystallography of the CC2-LZ domain of NEMO reveals a coupling between dimerization and ubiquitin binding.

Grubisha O et al.

Journal of Molecular Biology, 2010

NEMO specifically recognizes K63-linked poly-ubiquitin chains through a new bipartite ubiquitin-binding domain.

Laplantine E et al.

The Embo Journal, 2009

Structural basis for recognition of diubiquitins by NEMO.

Lo YC et al.

Molecular Cell, 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

IAPs contain an evolutionarily conserved ubiquitin-binding domain that regulates NF-kappaB as well as cell survival and oncogenesis.

Gyrd-Hansen M et al.

Nature Cell Biology, 2008

The RING domain and first zinc finger of TRAF6 coordinate signaling by interleukin-1, lipopolysaccharide, and RANKL.

Lamothe B et al.

The Journal of Biological Chemistry, 2008

Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.

Fusco F et al.

Human Mutation, 2008

Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma.

Morton S et al.

Febs Letters, 2008

The IRAK-catalysed activation of the E3 ligase function of Pellino isoforms induces the Lys63-linked polyubiquitination of IRAK1.

Ordureau A et al.

The Biochemical Journal, 2008

Optineurin negatively regulates TNFalpha- induced NF-kappaB activation by competing with NEMO for ubiquitinated RIP.

Zhu G et al.

Current Biology : Cb, 2007

NF-kappaB-related genetic diseases.

Courtois G et al.

Cell Death and Differentiation, 2006

The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.

Puel A et al.

American Journal of Human Genetics, 2006

Sensing of Lys 63-linked polyubiquitination by NEMO is a key event in NF-kappaB activation [corrected].

Wu CJ et al.

Nature Cell Biology, 2006

The NF-kappaB signaling pathway in human genetic diseases.

Courtois G

Cellular and Molecular Life Sciences : Cmls, 2005

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

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.

Döffinger R et al.

Nature Genetics, 2001

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