Article
Converging Role for REEP1/SPG31 in Oxidative Stress.
International journal of molecular sciences - 9 Feb 2023
Naef Valentina, Meschini Maria C, Tessa Alessandra, Morani Federica, Corsinovi Debora, Ogi Asahi, Marchese Maria, Ori Michela, Santorelli Filippo M, Doccini Stefano
Abstract excerpt
Mutations in the receptor expression-enhancing protein 1 gene (REEP1) are associated with hereditary spastic paraplegia type 31 (SPG31), a neurological disorder characterized by length-dependent degeneration of upper motor neuron axons. Mitochondrial dysfunctions have been observed in patients harboring pathogenic variants in REEP1, suggesting a key role of bioenergetics in disease-related manifestations....
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