Article
Two mutations G335D and Q343R within the amyloidogenic core region of TDP-43 influence its aggregation and inclusion formation.
Scientific reports - 31 Mar 2016
Jiang Lei-Lei, Zhao Jian, Yin Xiao-Fang, He Wen-Tian, Yang Hui, Che Mei-Xia, Hu Hong-Yu
Abstract excerpt
TDP-43 is a DNA/RNA binding protein associated with TDP-43 proteinopathies. Many mutations have been identified in the flexible C-terminal region, which is implicated in the disease pathology. We investigated four point mutations in the amyloidogenic core region (residues 311-360) of TDP-43 by biochemical and spectroscopic methods. We found that the G335D mutation enhances the aggregation and inclusion formation...
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