Characterization of Ataxia-linked MFN2 Variants Reveals a Lipid Droplet/Mitochondrial Axis Driving Ferroptosis
Pathogenic variants in the mitochondrial protein Mitofusin 2 have long been recognized to cause the peripheral neuropathy Charcot-Marie-Tooth Type 2A (CMT2A). However, a small subset of MFN2 variants also impact the central nervous system and cause cerebellar ataxia. The reason for this discrepancy and the mechanisms u...