Article
A meta-analysis of genetic variant pathogenicity and sex differences in UBQLN2-linked amyotrophic lateral sclerosis and frontotemporal dementia.
Neurobiology of disease - 1 Nov 2025
Thumbadoo Kyrah M, Nementzik Laura R, Swanson Molly E V, Dieriks Birger V, Dragunow Michael, Faull Richard L M, Curtis Maurice A, Blair Ian P, Nicholson Garth A, Williams Kelly L, Scotter Emma L
Abstract excerpt
Ubiquilin 2, encoded by the X-linked UBQLN2 gene, is a ubiquitin-binding quality control protein. Pathogenic UBQLN2 genetic variants cause X-linked dominant amyotrophic lateral sclerosis and/or frontotemporal dementia (ALS/FTD), however, clinical phenotypes from these variants show striking inter- and intra-familial heterogeneity. Further, there are many UBQLN2 variants whose significance to disease is uncertain....
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