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Mutations in the GTPases optic atrophy 1 (OPA1) and Mfn2 are associated with autosomal dominant optic atrophy and Charcot-Marie-Tooth neuropathy type 2A, and suggest a role for abnormal mitochondrial fusion in the pathogenesis of these human diseases (Larrea et al., 2019)

The Crucial Role of the Blood-Brain Barrier in Neurodegenerative Diseases: Mechanisms of Disruption and Therapeutic Implications

Despite promising Phase 2 results and an excellent safety profile, the compound could not demonstrate sufficient efficacy in the larger confirmatory trial to justify the investment required for continued pharmaceutical development toward regulatory approval

Moser and Hebert, 1996

Loos B, Engelbrecht AM, Lockshin RA, Klionsky DJ, Zakeri Z