NF-kappaB signaling pathway
Thursday 20 November 2003
Nuclear factor (NF)-kappaB and inhibitor of NF-kappaB kinase (IKK) proteins regulate many physiological processes, including the innate- and adaptive-immune responses, cell death and inflammation.
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.
PLEKHG5 mutations in distal spinal muscular atrophy type 4 (DSMA4) (MIM.611067) (#17564964#)
- 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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