Dominant optic atrophy: Culprit mitochondria in the optic nerve
Dominant optic atrophy (DOA) is an inherited mitochondrial disease leading to specific
degeneration of retinal ganglion cells (RGCs), thus compromising transmission of visual …
degeneration of retinal ganglion cells (RGCs), thus compromising transmission of visual …
Role of oxidative stress in ocular diseases associated with retinal ganglion cells degeneration
Ocular diseases associated with retinal ganglion cell (RGC) degeneration is the most
common neurodegenerative disorder that causes irreversible blindness worldwide. It is …
common neurodegenerative disorder that causes irreversible blindness worldwide. It is …
Mitochondrial retinopathies
The retina is an exquisite target for defects of oxidative phosphorylation (OXPHOS)
associated with mitochondrial impairment. Retinal involvement occurs in two ways, retinal …
associated with mitochondrial impairment. Retinal involvement occurs in two ways, retinal …
Therapeutic options in hereditary optic neuropathies
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 …
coming. The successful launch of the antioxidant idebenone for Leber's Hereditary Optic …
Understanding the molecular basis and pathogenesis of hereditary optic neuropathies: towards improved diagnosis and management
NJ Newman, P Yu-Wai-Man, V Biousse… - The Lancet …, 2023 - thelancet.com
Hereditary optic neuropathies result from defects in the human genome, both nuclear and
mitochondrial. The two main and most recognised phenotypes are dominant optic atrophy …
mitochondrial. The two main and most recognised phenotypes are dominant optic atrophy …
Mitochondria and the eye—manifestations of mitochondrial diseases and their management
Historically, distinct mitochondrial syndromes were recognised clinically by their ocular
features. Due to their predilection for metabolically active tissue, mitochondrial diseases …
features. Due to their predilection for metabolically active tissue, mitochondrial diseases …
[HTML][HTML] Mitochondrial disorders
T Klopstock, C Priglinger, A Yilmaz… - Deutsches Ärzteblatt …, 2021 - ncbi.nlm.nih.gov
Background Mitochondrial disorders are among the most common heritable diseases, with
an overall lifetime risk of approximately one in 1500. Nonetheless, their diagnosis is often …
an overall lifetime risk of approximately one in 1500. Nonetheless, their diagnosis is often …
Therapeutic approaches to treat mitochondrial diseases:“one-size-fits-all” and “precision medicine” strategies
E Bottani, C Lamperti, A Prigione, V Tiranti, N Persico… - Pharmaceutics, 2020 - mdpi.com
Primary mitochondrial diseases (PMD) refer to a group of severe, often inherited genetic
conditions due to mutations in the mitochondrial genome or in the nuclear genes encoding …
conditions due to mutations in the mitochondrial genome or in the nuclear genes encoding …
Mitochondrial dynamics: molecular mechanisms, related primary mitochondrial disorders and therapeutic approaches
M Di Nottia, D Verrigni, A Torraco, T Rizza, E Bertini… - Genes, 2021 - mdpi.com
Mitochondria do not exist as individual entities in the cell—conversely, they constitute an
interconnected community governed by the constant and opposite process of fission and …
interconnected community governed by the constant and opposite process of fission and …
CRISPR-Cas9 correction of OPA1 c. 1334G> A: p. R445H restores mitochondrial homeostasis in dominant optic atrophy patient-derived iPSCs
PE Sladen, PRL Perdigão, G Salsbury… - … Therapy-Nucleic Acids, 2021 - cell.com
Autosomal dominant optic atrophy (DOA) is the most common inherited optic neuropathy in
the United Kingdom. DOA has an insidious onset in early childhood, typically presenting …
the United Kingdom. DOA has an insidious onset in early childhood, typically presenting …