Article
Glial fibrillary acidic protein is pathologically modified in Alexander disease.
The Journal of biological chemistry - 1 Jul 2024
Lin Ni-Hsuan, Jian Wan-Syuan, Snider Natasha, Perng Ming-Der
Abstract excerpt
Here, we describe pathological events potentially involved in the disease pathogenesis of Alexander disease (AxD). This is a primary genetic disorder of astrocyte caused by dominant gain-of-function mutations in the gene coding for an intermediate filament protein glial fibrillary acidic protein (GFAP). Pathologically, this disease is characterized by the upregulation of GFAP and its accumulation as Rosenthal...
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