Article
OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts.
Human molecular genetics - 18 Apr 2024
Zanfardino Paola, Amati Alessandro, Doccini Stefano, Cox Sharon N, Tullo Apollonia, Longo Giovanna, D'Erchia Annamaria, Picardi Ernesto, Nesti Claudia, Santorelli Filippo M, Petruzzella Vittoria
Abstract excerpt
In several cases of mitochondrial diseases, the underlying genetic and bioenergetic causes of reduced oxidative phosphorylation (OxPhos) in mitochondrial dysfunction are well understood. However, there is still limited knowledge about the specific cellular outcomes and factors involved for each gene and mutation, which contributes to the lack of effective treatments for these disorders. This study focused on...
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