Article

Lysosomal function, resistance to stress and repair are compromised by expression of the Alexander disease GFAP R239C mutant

2024-12-04

Abstract excerpt

Intermediate filaments are critical regulators of cell responses and organizers of cellular structures. GFAP (glial fibrillary acidic protein) is an intermediate filament protein mainly expressed in astrocytes. GFAP mutations are associated with Alexander disease (AxD), a type of leukodystrophy that causes degeneration of astrocytes and ultimately neurodegeneration. AxD astrocytes display protein aggregation, prot...

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Literature Corpus work: a219a3af-b3ea-5ac2-bb42-59da1809a130
DOI: 10.1101/2024.12.03.626547

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