NF-κB Defects in Humans: The NEMO/Incontinentia Pigmenti Connection

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Science's STKE  14 Nov 2000:
Vol. 2000, Issue 58, pp. pe1
DOI: 10.1126/stke.2000.58.pe1

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The components of the nuclear factor-κB (NF-κB) family of transcription factors are critical for regulating the response to immune challenges. Recently, a role for NF-κB in skin biology has been revealed. Within the cascade of proteins whose activities impinge upon the activation of NF-κB, the NEMO (NF-κB essential modulator)/IKKγ protein is required for the activation of the IκB kinases, which in turn, promote the degradation of IκB proteins, leading to the derepression of NF-κB activity. Courtois and Israël discuss the role of NEMO/IKKγ in normal physiological activation of NF-κB and the consequences of defective NF-κB activation, as an effect of NEMO/IKKγ mutations, which can lead to incontinentia pigmenti, a disease marked by alopecia, tooth eruption, skin lesions, and changes in skin pigmentation.

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