Article
Aberrant neurodevelopment in human iPS cell-derived models of Alexander disease.
Glia - 1 Jan 2025
Matusova Zuzana, Dykstra Werner, de Pablo Yolanda, Zetterdahl Oskar G, Canals Isaac, van Gelder Charlotte A G H, Vos Harmjan R, Pérez-Sala Dolores, Kubista Mikael, Abaffy Pavel, Ahlenius Henrik, Valihrach Lukas, Hol Elly M, Pekny Milos
Abstract excerpt
Alexander disease (AxD) is a rare and severe neurodegenerative disorder caused by mutations in glial fibrillary acidic protein (GFAP). While the exact disease mechanism remains unknown, previous studies suggest that mutant GFAP influences many cellular processes, including cytoskeleton stability, mechanosensing, metabolism, and proteasome function. While most studies have primarily focused on GFAP-expressing...
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