ALEXANDER Disease - Europe PMC

Effects of Alexander disease-associated mutations on the assembly and organization of GFAP intermediate filaments.

In brain tissues of patients with Alexander disease, a significant amount of insoluble GFAP was found in Rosenthal fiber fractions, which revealed a substantial amount of insoluble GFAP. These results reveal that GFAP assembly defects contribute to tissue pathology at the tissue level, and that modified filament assembly and properties as a result of GFAP mutation are important initiating factors in Alexander disease pathogenesis.

Source link: https://europepmc.org/article/MED/35511821

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