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.
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