Naturally occurring genetic variants of human caspase-1 differ considerably in structure and the ability to activate interleukin-1β.

doi:10.1002/humu.22169

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Article

Naturally occurring genetic variants of human caspase-1 differ considerably in structure and the ability to activate interleukin-1β.

Human mutation - 1 Jan 2013

Luksch Hella, Romanowski Michael J, Chara Osvaldo, Tüngler Victoria, Caffarena Ernesto R, Heymann Michael C, Lohse Peter, Aksentijevich Ivona, Remmers Elaine F, Flecks Silvana, Quoos Nadine, Gramatté Johannes, Petzold Cathleen, Hofmann Sigrun R, Winkler Stefan, Pessler Frank, Kallinich Tilmann, Ganser Gerd, Nimtz-Talaska Antje, Baumann Ulrich, Runde Volker, Grimbacher Bodo, Birmelin Jennifer, Gahr Manfred, Roesler Joachim, Rösen-Wolff Angela

Abstract excerpt

Caspase-1 (Interleukin-1 Converting Enzyme, ICE) is a proinflammatory enzyme that plays pivotal roles in innate immunity and many inflammatory conditions such as periodic fever syndromes and gout. Inflammation is often mediated by enzymatic activation of interleukin (IL)-1β and IL-18. We detected seven naturally occurring human CASP1 variants with different effects on protein structure, expression, and enzymatic...

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PMID: 22833538
DOI: 10.1002/humu.22169

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CASP1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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