Alexander Disease – Modulators of the unconventional protein secretion in AxD

Alexander Disease (AxD) is a rare fatal neurodegenerative disorder that is attributed to mutations in glial fubrillary acidic protein (GFAP). Clinically, AxD is considered a type of leukoencephalopathy sometimes characterized by demyelination of the central nervous system (CNS) and the formation of GFAP-containing Rosenthal fibers in astrocytes.

While it has been shown that GFAP mutations cause AxD, the exact pathomechanism is still unknown and there is still no accepted line of treatment.

The present invention provides a new approach for AxD therapy based on the newly indentified role of GFAP in the unconventional secretory pathway (USP).

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