Journal
FEBS LETTERS
Volume 579, Issue 23, Pages 5193-5198Publisher
WILEY
DOI: 10.1016/j.febslet.2005.08.037
Keywords
tumour necrosis factor; TRAPS; NF-kappa B
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Tumour necrosis factor receptor-associated periodic syndrome (TRAPS) results from point mutations in the extracellular domain of TNF receptor 1 (TNFRSF1A), but the effects of the mutations are controversial. This study shows that reduced NF-kappa B signalling is a feature of four TRAPS mutations. Reduced signalling correlates with reduced surface expression, measured by flow cytometry and microscopy. This suggests that correct formation of the extracellular domain of TNFRSF1A is important for localisation and receptor function. Importantly, our data provides a mechanism for the reduced TNFRSF1 signalling observed in a patient cell line. (c) 2005 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.
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