NF-kappaB signaling pathway
Thursday 20 November 2003
Disruption of NF-kappaB or IKK function contributes to many human diseases, including cancer.
However, the NF-kappaB and IKK pathways do not exist in isolation and there are many mechanisms that integrate their activity with other cell-signalling networks. This crosstalk constitutes a decision-making process that determines the consequences of NF-kappaB and IKK activation and, ultimately, cell fate.
- Wild-type PLEKHG5 activated the nuclear factor kappa B (NF kappa B) signaling pathway and that both the stability and the intracellular location of mutant PLEKHG5 protein were altered, severely impairing the NF kappa B transduction pathway. (17564964)
- The nuclear factor kappaB-activator gene PLEKHG5 is mutated in autosomal recessive distal spinal muscular atrophy type 4 (DSMA4) (MIM.611067) at 1p36, a form of autosomal recessive lower motor neuron disease with childhood onset.
- Loss of PLEKHG5 function and aggregate formation may contribute to neurotoxicity in this form of LMND.
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Puel A, Picard C, Ku CL, Smahi A, Casanova JL. Inherited disorders of NF-kappaB-mediated immunity in man. Curr Opin Immunol. 2004 Feb;16(1):34-41. PMID: 14734108
Smahi A, Courtois G, Rabia SH, Doffinger R, Bodemer C, Munnich A, Casanova JL, Israel A. The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Hum Mol Genet. 2002 Oct 1;11(20):2371-5. PMID: 12351572
Maystadt I, Rezsohazy R, Barkats M, Duque S, Vannuffel P, Remacle S, Lambert B, Najimi M, Sokal E, Munnich A, Viollet L, Verellen-Dumoulin C. The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. Am J Hum Genet. 2007 Jul;81(1):67-76. PMID: 17564964