Intermediate filament dysregulation and astrocytopathy in the human disease model of KLHL16 mutation in giant axonal neuropathy (GAN)
R. Battaglia, M. Faridounnia, A. Beltran, J. Robinson, K. Kinghorn, J. A. Ezzell, D. Bharucha-Goebel, C. Bonnemann, J. E. Hooper, P. Opal, T. W. Bouldin, D. Armao, N. Snider
This study investigates KLHL16 mutations in GAN using patient-derived iPSCs, revealing dysregulated intermediate filaments and astrocytic pathology.
bioRxiv · Mar 13, 2023 · PreprintCell Biology