ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
Leonardo CaporaliStefania MagriAndrea LegatiValentina Del DottoFrancesca TagliaviniFrancesca BalistreriAlessia NascaChiara La MorgiaMichele CarbonelliMaria L ValentinoEleonora LamanteaSilvia BarattaLudger SchölsRebecca SchülePiero BarboniMaria L CascavillaAlessandra MarescaMariantonietta CapristoAnna ArdissoneDavide PareysonGabriella CammarataLisa MelziMassimo ZevianiLorenzo PeverelliCostanza LampertiStefania B MarzoliMingyan FangMatthis SynofzikDaniele GhezziValerio CarelliFranco TaroniPublished in: Annals of neurology (2020)
This study demonstrates that mutations in AFG3L2 are a relevant cause of optic neuropathy, broadening the spectrum of clinical manifestations and genetic mechanisms associated with AFG3L2 mutations, and underscores the pivotal role of OPA1 and its processing in the pathogenesis of DOA. ANN NEUROL 2020 ANN NEUROL 2020;88:18-32.
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