N. Snider

Intermediate filament dysregulation and astrocytopathy in the human disease model of KLHL16 mutation in giant axonal neuropathy (GAN)

This study investigates KLHL16 mutations in GAN using patient-derived iPSCs, revealing dysregulated intermediate filaments and astrocytic pathology.

Calpain-mediated proteolysis of vimentin filaments is augmented in Giant Axonal Neuropathy (GAN) fibroblasts exposed to hypotonic stress

This study shows that hypotonic stress increases calpain-mediated vimentin proteolysis in GAN fibroblasts, which is more pronounced than in controls.