Medicine and Health
A C-Terminally Truncated TDP-43 Splice Isoform Exhibits Neuronal Specific Cytoplasmic Aggregation and Contributes to TDP-43 Pathology in ALS
M. Shenouda, S. Xiao, et al.
Neuronal cytoplasmic aggregation and ubiquitination of TDP-43 link ALS and FTLD. The authors identify a novel C-terminally truncated TDP-43 variant, TDP43C-spl, produced by non‑canonical exon 6 splicing that retains a unique 18‑amino‑acid sequence and forms ubiquitinated cytoplasmic aggregates in neurons but remains nuclear in glia. This research was conducted by Marc Shenouda, Shangxi Xiao, Laura MacNair, Agnes Lau, and Janice Robertson.
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