Article
An ALS-associated mutation affecting TDP-43 enhances protein aggregation, fibril formation and neurotoxicity.
Nature structural & molecular biology - 12 Jun 2011
Guo Weirui, Chen Yanbo, Zhou Xiaohong, Kar Amar, Ray Payal, Chen Xiaoping, Rao Elizabeth J, Yang Mengxue, Ye Haihong, Zhu Li, Liu Jianghong, Xu Meng, Yang Yanlian, Wang Chen, Zhang David, Bigio Eileen H, Mesulam Marsel, Shen Yan, Xu Qi, Fushimi Kazuo, Wu Jane Y
Abstract excerpt
Mutations in TARDBP, encoding TAR DNA-binding protein-43 (TDP-43), are associated with TDP-43 proteinopathies, including amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). We compared wild-type TDP-43 and an ALS-associated mutant TDP-43 in vitro and in vivo. The A315T mutant enhances neurotoxicity and the formation of aberrant TDP-43 species, including protease-resistant fragments....
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