| First Author | Marín-Rubio JL | Year | 2023 |
| Journal | Dis Model Mech | Volume | 16 |
| Issue | 6 | PubMed ID | 37387450 |
| Mgi Jnum | J:337987 | Mgi Id | MGI:7507661 |
| Doi | 10.1242/dmm.050093 | Citation | Marin-Rubio JL, et al. (2023) CYLD in health and disease. Dis Model Mech 16(6) |
| abstractText | 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-kappaB, Wnt and TGF-beta 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. |
