Article
Truncation and pathogenic mutations facilitate the formation of intracellular aggregates of TDP-43.
Human molecular genetics - 15 Sept 2009
Nonaka Takashi, Kametani Fuyuki, Arai Tetsuaki, Akiyama Haruhiko, Hasegawa Masato
Abstract excerpt
TAR DNA binding protein of 43 kDa (TDP-43) is a major component of the ubiquitin-positive inclusions found in the brain of patients with frontotemporal lobar degeneration (FTLD-U) and amyotrophic lateral sclerosis (ALS). Here, we report that expression of TDP-43 C-terminal fragments as green fluorescent protein (GFP) fusions in SH-SY5Y cells results in the formation of abnormally phosphorylated and ubiquitinated...
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