Article
Mutated FUS in familial amyotrophic lateral sclerosis involves multiple hnRNPs in the formation of neuronal cytoplasmic inclusions.
Journal of neuropathology and experimental neurology - 21 Feb 2023
Honda Hiroyuki, Yoshimura Motoi, Arahata Hajime, Yagita Kaoru, Sadashima Shoko, Hamasaki Hideomi, Shijo Masahiro, Koyama Sachiko, Noguchi Hideko, Sasagasako Naokazu
Abstract excerpt
Fused in sarcoma (FUS), coded by FUS, is a heterogeneous nuclear ribonucleoprotein (hnRNP). FUS mutations are among the major mutations in familial amyotrophic lateral sclerosis (ALS-FUS: ALS6). The pathological hallmarks of ALS-FUS are FUS-positive neuronal cytoplasmic inclusions (NCI). We examined various hnRNPs in FUS NCIs in the hippocampus in ALS-FUS cases with different FUS mutations (Case 1, H517P; Case 2,...
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