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CYLD in health and disease

Lookup NU author(s): Dr Jose Luis Marin-RubioORCiD, Dr Joe Inns, Professor Neil RajanORCiD


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© 2023. Published by The Company of Biologists Ltd. CYLD lysine 63 deubiquitinase (CYLD) is a ubiquitin hydrolase with important roles in immunity and cancer. Complete CYLD ablation, truncation and expression of alternate isoforms, including short CYLD, drive distinct phenotypes and offer insights into CYLD function in inflammation, cell death, cell cycle progression and cell transformation. Research in diverse model systems has shown that these are mediated via CYLD regulation of cellular pathways including the NF-κB, Wnt and TGF-β pathways. Recent biochemical advances and models have offered new insights into the regulation and function of CYLD. In addition, recent discoveries of gain-of-function germline pathogenic CYLD variants in patients with a neurodegenerative phenotype contrast with the more widely known loss-of-function mutations seen in patients with CYLD cutaneous syndrome and with sporadic cancers. Here, we provide a current review of mechanistic insights into CYLD function gained from CYLD animal models, as well as an update on the role of CYLD in human disease.

Publication metadata

Author(s): Marin-Rubio JL, Raote I, Inns J, Dobson-Stone C, Rajan N

Publication type: Review

Publication status: Published

Journal: Disease Models & Mechanisms

Year: 2023

Volume: 16

Issue: 6

Online publication date: 30/06/2023

Acceptance date: 02/04/2018

ISSN (print): 1754-8403

ISSN (electronic): 1754-8411

Publisher: NLM (Medline)


DOI: 10.1242/dmm.050093

PubMed id: 37387450