Article

Disruption of mitochondrial homeostasis and permeability transition pore opening in OPA1 iPSC-derived retinal ganglion cells

2024-12-23

Abstract excerpt

<title>Abstract</title> <p>Dominant optic atrophy (DOA) is the most common inherited optic neuropathy, characterised by the selective loss of retinal ganglion cells (RGCs). Over 60% of DOA cases are caused by pathogenic variants in the <italic>OPA1</italic> gene, which encodes a dynamin-related GTPase protein. OPA1 plays a key role in the maintenance of the mitochondrial network, mitochondrial DNA integrity and b...

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Literature Corpus work: e4b00cd7-4a15-53f0-b7ff-c1a576f0dc78
DOI: 10.21203/rs.3.rs-5153627/v1

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