Loss of the mitochondrial i‐AAA protease YME1L leads to ocular dysfunction and spinal axonopathy

Abstract excerpt

Abstract Disturbances in the morphology and function of mitochondria cause neurological diseases, which can affect the central and peripheral nervous system. The i ‐AAA protease YME1L ensures mitochondrial proteostasis and regulates mitochondrial dynamics by processing of the dynamin‐like GTPase OPA1. Mutations in YME1L cause a multi‐systemic mitochondriopathy associated with neurological dysfunction and...

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