Mutation of the extracellular domain of tumour necrosis factor receptor 1 causes reduced NF‐κB activation due to decreased surface expression

Siebert, Stefan, Fielding, Ceri A. ORCID: https://orcid.org/0000-0002-5817-3153, Williams, Bryan D. and Brennan, Paul ORCID: https://orcid.org/0000-0001-8792-0499 2005. Mutation of the extracellular domain of tumour necrosis factor receptor 1 causes reduced NF‐κB activation due to decreased surface expression. FEBS Letters 579 (23) , pp. 5193-5198. 10.1016/j.febslet.2005.08.037

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Abstract

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-κB 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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	Q Science > QH Natural history > QH426 Genetics R Medicine > RC Internal medicine > RC0254 Neoplasms. Tumors. Oncology (including Cancer)
Uncontrolled Keywords:	Tumour necrosis factor; TRAPS; NF-κB
Publisher:	Elsevier
ISSN:	0014-5793
Last Modified:	19 Oct 2022 09:40
URI:	https://orca.cardiff.ac.uk/id/eprint/21794

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