Article
Drosophila model to clarify the pathological significance of OPA1 in autosomal dominant optic atrophy.
eLife - 23 Aug 2024
Nitta Yohei, Osaka Jiro, Maki Ryuto, Hakeda-Suzuki Satoko, Suzuki Emiko, Ueki Satoshi, Suzuki Takashi, Sugie Atsushi
Abstract excerpt
Autosomal dominant optic atrophy (DOA) is a progressive form of blindness caused by degeneration of retinal ganglion cells and their axons, mainly caused by mutations in the OPA1 mitochondrial dynamin like GTPase (OPA1) gene. OPA1 encodes a dynamin-like GTPase present in the mitochondrial inner membrane. When associated with OPA1 mutations, DOA can present not only ocular symptoms but also multi-organ symptoms...
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