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1. Intermediate filament dysregulation in astrocytes in the human disease model of KLHL16mutation in giant axonal neuropathy (GAN)

Author

Battaglia, Rachel A., Faridounnia, Maryam, Beltran, Adriana, Robinson, Jasmine, Kinghorn, Karina, Ezzell, J. Ashley, Bharucha-Goebel, Diana, Bönnemann, Carsten G., Hooper, Jody E., Opal, Puneet, Bouldin, Thomas W., Armao, Diane, and Snider, Natasha T.

Abstract

In this work, the authors we used patient-derived induced- pluripotent stem cells (iPSCs) and directed differentiation to develop human astrocyte and brain- organoid models of giant- axonal neuropathy (GAN), which is caused by KLHL16 gene mutations. These models reproduce abnormalities of the intermediate- filament cytoskeleton similar to astrocytes of GAN patients in vivo. The studies reveal new mechanisms regarding the role of vimentin in glial fibrillary acidic- protein (GFAP) aggregation and KLHL16mRNA localization in cells.

Published
2023
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