Ontology highlight
ABSTRACT:
SUBMITTER: Damgaard RB
PROVIDER: S-EPMC5002269 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Damgaard Rune Busk RB Walker Jennifer A JA Marco-Casanova Paola P Morgan Neil V NV Titheradge Hannah L HL Elliott Paul R PR McHale Duncan D Maher Eamonn R ER McKenzie Andrew N J ANJ Komander David D
Cell 20160811 5
Methionine-1 (M1)-linked ubiquitin chains regulate the activity of NF-κB, immune homeostasis, and responses to infection. The importance of negative regulators of M1-linked chains in vivo remains poorly understood. Here, we show that the M1-specific deubiquitinase OTULIN is essential for preventing TNF-associated systemic inflammation in humans and mice. A homozygous hypomorphic mutation in human OTULIN causes a potentially fatal autoinflammatory condition termed OTULIN-related autoinflammatory ...[more]