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Article

Pathogenic mutations in UBQLN2 exhibit diverse aggregation propensity and neurotoxicity.

Scientific reports - 13 Mar 2024

Safren Nathaniel, Dao Thuy P, Mohan Harihar Milaganur, Huang Camellia, Trotter Bryce, Castañeda Carlos A, Paulson Henry, Barmada Sami, Sharkey Lisa M

Abstract excerpt

The ubiquitin-adaptor protein UBQLN2 promotes degradation of several aggregate-prone proteins implicated in neurodegenerative diseases. Missense UBQLN2 mutations also cause X-linked amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Previously we demonstrated that the liquid-like properties of UBQLN2 molecular assemblies are altered by a specific pathogenic mutation, P506T, and that the...

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Identifiers

PMID: 38472280
DOI: 10.1038/s41598-024-55582-9
PMCID: PMC10933299

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