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A. Z. Buzatto

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Open access Sep 2026

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...

M. Zaman, A. Mohan, C. Chute et al. · 0 citations

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