Article
Effects of Alexander disease-associated mutations on the assembly and organization of GFAP intermediate filaments.
Molecular biology of the cell - 1 Jul 2022
Yang Ai-Wen, Lin Ni-Hsuan, Yeh Ting-Hung, Snider Natasha, Perng Ming-Der
Abstract excerpt
Alexander disease is a primary genetic disorder of astrocytes caused by dominant mutations in the gene encoding glial fibrillary acidic protein (GFAP). How single-amino-acid changes can lead to cytoskeletal catastrophe and brain degeneration remains poorly understood. In this study, we have analyzed 14 missense mutations located in the GFAP rod domain to investigate how these mutations affect in vitro filament...
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