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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.
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)
URL: https://doi.org/10.1242/dmm.050093
DOI: 10.1242/dmm.050093
PubMed id: 37387450
