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

31 Aug 2005

Abstract excerpt

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...

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Identifiers

PMID: 16162344
DOI: 10.1016/j.febslet.2005.08.037

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