Article
Distribution of ubiquilin 2 and TDP-43 aggregates throughout the CNS in UBQLN2 p.T487I-linked amyotrophic lateral sclerosis and frontotemporal dementia.
Brain pathology (Zurich, Switzerland) - 1 May 2024
Nementzik Laura R, Thumbadoo Kyrah M, Murray Helen C, Gordon David, Yang Shu, Blair Ian P, Turner Clinton, Faull Richard L M, Curtis Maurice A, McLean Catriona, Nicholson Garth A, Swanson Molly E V, Scotter Emma L
Abstract excerpt
Mutations in the UBQLN2 gene cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The neuropathology of such UBQLN2-linked cases of ALS/FTD is characterised by aggregates of the ubiquilin 2 protein in addition to aggregates of the transactive response DNA-binding protein of 43 kDa (TDP-43). ALS and FTD without UBQLN2 mutations are also characterised by TDP-43 aggregates, that may or may...
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