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

Siebert, Stefan, Fielding, Ceri Alan, Williams, Bryan D. and Brennan, Paul 2005. Mutation of the extracellular domain of tumour necrosis factor receptor 1 causes reduced NF-kappaB 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-kappaB 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: R Medicine > R Medicine (General)
R Medicine > RZ Other systems of medicine
Uncontrolled Keywords: Animals,Cell Death,Cell Line,Humans,NF-kappa B/metabolism*,Point Mutation*,Protein Structure Tertiary,Receptors Tumor Necrosis Factor Type I/genetics*,Receptors Tumor Necrosis Factor Type I/metabolism*,Signal Transduction/physiology,Syndrome Substances NF-kappa B,Receptors, Tumor Necrosis Factor, Type I
Additional Information: Publication Types Research Support, Non-U.S. Gov't Full Text Sources Elsevier Science Gale Databases Other Literature Sources COS Scholar Universe Medical TNFRSF1A Gene - Genetics Home Reference
Publisher: Elsevier
ISSN: 0014-5793
Last Modified: 04 Jun 2017 06:21
URI: http://orca-mwe.cf.ac.uk/id/eprint/59082

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