Associated Papers
An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation.
Mou W et al.
Journal of Clinical Immunology, 2023
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
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.
Conte MI et al.
Human Mutation, 2014
Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathology.
Gautheron J et al.
Human Molecular Genetics, 2010
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.
Fusco F et al.
Human Mutation, 2008
NF-kappaB-related genetic diseases.
Courtois G et al.
Cell Death and Differentiation, 2006
Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.
Fusco F et al.
Human Molecular Genetics, 2004
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