Article
OPA1 disease-causing mutants have domain-specific effects on mitochondrial ultrastructure and fusion.
Proceedings of the National Academy of Sciences of the United States of America - 21 Mar 2023
Cartes-Saavedra Benjamín, Lagos Daniel, Macuada Josefa, Arancibia Duxan, Burté Florence, Sjöberg-Herrera Marcela K, Andrés María Estela, Horvath Rita, Yu-Wai-Man Patrick, Hajnóczky György, Eisner Verónica
Abstract excerpt
Inner mitochondrial membrane fusion and cristae shape depend on optic atrophy protein 1, OPA1. Mutations in OPA1 lead to autosomal dominant optic atrophy (ADOA), an important cause of inherited blindness. The Guanosin Triphosphatase (GTPase) and GTPase effector domains (GEDs) of OPA1 are essential for mitochondrial fusion; yet, their specific roles remain elusive. Intriguingly, patients carrying OPA1 GTPase...
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