A number of spontaneous mutations in GFAP, encoding an astrocyte-specific intermediate filament protein, causes a neurodegenerative disease. It seems probable that these mutations effect gain of function of the GFAP filament and thereby have an impact on the cytoskeletal architecture and interactions.
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Quinlan, R. Cytoskeletal catastrophe causes brain degeneration. Nat Genet 27, 10–11 (2001). https://doi.org/10.1038/83657
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DOI: https://doi.org/10.1038/83657