Ubiquilins (UBQLNs) are multifunctional proteins that interact with a variety of components of the cell's protein quality control (PQC) machinery. UBQLN mutations are most frequently connected to amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and other neurodegenerative diseases. Studies have shown that UBQLN proteins undergo phase separation and form condensates and pathogenic aggregates (32965492, 33431932).
Formation, Composition & dynamics (Assembly and disassembly)
32965492 reviewed the structure, dynamics and functions of UBQLNs in detail.
Relation to human disease
BQLN mutations are most frequently connected to amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and other neurodegenerative diseases (32965492, 32653673, 30333186).
UBQLNs 1, 2 and 4 (33431932).
Zheng T, Yang Y, Castañeda CA. Structure, dynamics and functions of UBQLNs: at the crossroads of protein quality control machinery. Biochem J. 2020 Sep 30;477(18):3471-3497. doi: 10.1042/BCJ20190497. PMID: 32965492; PMCID: PMC7737201.
Gerson JE, Linton H, Xing J, Sutter AB, Kakos FS, Ryou J, Liggans N, Sharkey LM, Safren N, Paulson HL, Ivanova MI. Shared and divergent phase separation and aggregation properties of brain-expressed ubiquilins. Sci Rep. 2021 Jan 11;11(1):287. doi: 10.1038/s41598-020-78775-4. PMID: 33431932; PMCID: PMC7801659.