Dominant optic atrophy (DOA) is an inherited mitochondrial disease leading to specific
degeneration of retinal ganglion cells (RGCs), thus compromising transmission of visual …

The retina is an exquisite target for defects of oxidative phosphorylation (OXPHOS)
associated with mitochondrial impairment. Retinal involvement occurs in two ways, retinal …

Mitochondria adapt to different energetic demands reshaping their proteome. Mitochondrial
proteases are emerging as key regulators of these adaptive processes. Here, we use a …

Options for the effective treatment of hereditary optic neuropathies have been a long time
coming. The successful launch of the antioxidant idebenone for Leber's Hereditary Optic …

Since their discovery, heat shock proteins (HSPs) have been identified in all domains of life,
which demonstrates their importance and conserved functional role in maintaining protein …

Hereditary optic neuropathies are caused by the degeneration of retinal ganglion cells
whose axons form the optic nerves, with a consistent genetic heterogeneity. As part of our …

Mitochondria contain more than 1000 different proteins, including several proteolytic
enzymes. These mitochondrial proteases form a complex system that performs limited and …

Biallelic mutations in ACO2, encoding the mitochondrial aconitase 2, have been identified in
individuals with neurodegenerative syndromes, including infantile cerebellar retinal …

This review explored the role of mitochondria in retinal ganglion cells (RGCs), which are
essential for visual processing. Mitochondrial dysfunction is a key factor in the pathogenesis …

Autosomal dominant optic atrophy is one of the most common inherited optic neuropathies.
This disease is genetically heterogeneous, but most cases are due to pathogenic variants in …