Idebenone protects against retinal damage and loss of vision in a mouse model of Leber's hereditary optic neuropathy. [PDF]
PLoS ONE, 2012 Leber's hereditary optic neuropathy (LHON) is an inherited disease caused by mutations in complex I of the mitochondrial respiratory chain. The disease is characterized by loss of central vision due to retinal ganglion cell (RGC) dysfunction and optic ...
Fabrice D Heitz +5 more
doaj +1 more source
Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway [PDF]
, 2017 Oxidative stress is involved in the pathogenesis of Duchenne muscular dystrophy (DMD), an X-linked genetic disorder caused by mutations in the dystrophin gene and characterized by progressive, lethal muscle degeneration and chronic inflammation.
Bertini, Enrico +10 more
core +5 more sources
Biomedicines, 2020 Endoplasmic reticulum (ER) stress in intestinal secretory goblet cells has been linked to the development of ulcerative colitis (UC). Emerging evidence suggests that the short chain quinone drug idebenone displays anti-inflammatory activity in addition ...
Sonia Shastri +4 more
doaj +1 more source
Inhibition of ANO1/TMEM16A Chloride Channel by Idebenone and Its Cytotoxicity to Cancer Cell Lines. [PDF]
PLoS ONE, 2015 The expression levels of anoctamin 1 (ANO1, TMEM16A), a calcium-activated chloride channel (CaCC), are significantly increased in several tumors, and inhibition of ANO1 is known to reduce cell proliferation and migration.
Yohan Seo +6 more
doaj +1 more source
A Female Patient with Down Syndrome and Low-Penetrance Leber's Hereditary Optic Neuropathy. [PDF]
, 2014 We present the case of a 19-year-old female with a history of Down syndrome (DS) who was referred to our neuro-ophthalmology clinic for evaluation of Leber's hereditary optic neuropathy (LHON).
Frousiakis, Starleen E +3 more
core +3 more sources
Cell Death Discovery, 2022 The progression of Parkinson’s disease (PD) is often accompanied by the loss of substantia nigra dopaminergic neurons, mitophagy damage, learning, and memory impairment.
Junqiang Yan +8 more
doaj +1 more source
A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus [PDF]
, 2019 Given the limited lifespan and with the recent progress in experimental treatments for WS, timely diagnosis and multidisciplinary treatment for DI/DM, hydronephrosis, and visual/psychiatric status-maintaining quality of life-are of crucial ...
Delides, Alexandros +11 more
core +2 more sources
Synthesis and Characterization of PCL-Idebenone Nanoparticles for Potential Nose-to-Brain Delivery
Biomedicines, 2023 The present work is focused on the preparation of an optimal model of poly-ε-caprolactone nanoparticles as potential carriers for nasal administration of idebenone. A solvent/evaporation technique was used for nanoparticle preparation.
Radka Boyuklieva +2 more
doaj +1 more source
Medical management of hereditary optic neuropathies. [PDF]
, 2014 Hereditary optic neuropathies are diseases affecting the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e., the maternally inherited Leber's hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA).
Barboni, Piero +4 more
core +1 more source
The CoQ oxidoreductase FSP1 acts parallel to GPX4 to inhibit ferroptosis. [PDF]
, 2019 Ferroptosis is a form of regulated cell death that is caused by the iron-dependent peroxidation of lipids1,2. The glutathione-dependent lipid hydroperoxidase glutathione peroxidase 4 (GPX4) prevents ferroptosis by converting lipid hydroperoxides into non-
A Arroyo +43 more
core +1 more source