Article
Site-specific phosphorylation and caspase cleavage of GFAP are new markers of Alexander disease severity.
eLife - 4 Nov 2019
Battaglia Rachel A, Beltran Adriana S, Delic Samed, Dumitru Raluca, Robinson Jasmine A, Kabiraj Parijat, Herring Laura E, Madden Victoria J, Ravinder Namritha, Willems Erik, Newman Rhonda A, Quinlan Roy A, Goldman James E, Perng Ming-Der, Inagaki Masaki, Snider Natasha T
Abstract excerpt
Alexander disease (AxD) is a fatal neurodegenerative disorder caused by mutations in glial fibrillary acidic protein (GFAP), which supports the structural integrity of astrocytes. Over 70 GFAP missense mutations cause AxD, but the mechanism linking different mutations to disease-relevant phenotypes remains unknown. We used AxD patient brain tissue and induced pluripotent stem cell (iPSC)-derived astrocytes to...
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