Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease

By M. Brenner, Anne B. Johnson, O. Boespflug-Tanguy, D. Rodriguez, J. Goldman, A. Messing. Nature Genetics, 2001

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Astrocyte reactivity and reactive astrogliosis: costs and benefits. (2014, background): “It is caused by a mutation in GFAP gene that acts in a gain-of-function fashion and leads on a cellular level to overexpression of a mutant GFAP and its toxic accumulation in Rosenthal fibers together with small stress proteins, such as HSP27 and B-crystallin (31, 150).”
Astrocyte reactivity: Subtypes, states and functions in CNS innate immunity (2020, background): “For example, gene mutations or polymorphisms in HD [58, 86], familial ALS [55], Alexander disease [87], AD with APOE4 polymorphism [56], infections with prions [68] or viruses [88], or exposure to environmental toxins [25], can all directly lead to disease-induced cellautonomous astrocyte dysfunctio”
Astrocytes: biology and pathology (2009, background): “Alexander disease is a genetic disorder of astrocytes caused by a dominant, gain-of-function mutation of the gene encoding GFAP [25].”