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Mechanism of AFG3L2 F175S Mutation in Dominant Optic Atrophy

ABSTRACT: This study aims to confirm the pathogenic role of the AFG3L2 F175S mutation in dominant optic atrophy (DOA) and elucidate its molecular mechanisms disrupting mitochondrial morphology and function.

ORGANISM(S): Homo Sapiens

SUBMITTER: Xiuxiu Jin

PROVIDER: PXD064587 | iProX | Tue Jun 03 00:00:00 BST 2025

REPOSITORIES: iProX

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