Results 1 to 10 of about 12,985,405 (284)
Exclusion of sulfide:quinone oxidoreductase from mitochondria causes Leigh-like disease in mice by impairing sulfide metabolism [PDF]
The Journal of Clinical InvestigationLeigh syndrome is the most common inherited mitochondrial disease in children and is often fatal within the first few years of life. In 2020, mutations in the gene encoding sulfide:quinone oxidoreductase (SQOR), a mitochondrial protein, were identified ...
Eiki Kanemaru +11 more
doaj +3 more sources
Anesthetic considerations in Leigh disease: Case report and literature review
Saudi Journal of Anaesthesia, 2012 Leigh disease is an extremely rare disorder, characterized by a progressive neurodegenerative course, with subacute necrotizing encephalomyelopathy. It usually presents in infancy with developmental delay, seizures, dysarthria, and ataxia. These patients
Abdullah Sulieman Terkawi +3 more
doaj +3 more sources
Adult Leigh Disease Without Failure to Thrive [PDF]
The Neurologist, 2011 Most Leigh disease (LD) patients die before reaching adulthood, but there are reports of "adult LD." The clinical features of adult LD were quite different from those in infant or childhood cases. Here, we describe a normally developed patient with adult LD, who presented with spastic paraplegia that was followed several years later by acute ...
Sakushima, Ken +5 more
semanticscholar +5 more sources
Therapeutic effects of the mitochondrial ROS-redox modulator KH176 in a mammalian model of Leigh Disease [PDF]
Scientific Reports, 2017 Leigh Disease is a progressive neurometabolic disorder for which a clinical effective treatment is currently still lacking. Here, we report on the therapeutic efficacy of KH176, a new chemical entity derivative of Trolox, in Ndufs4 (-/-) mice, a ...
A Daiber +61 more
core +4 more sources
Mitochondrial Oxidative Stress Mediates Bradyarrhythmia in Leigh Syndrome Mitochondrial Disease Mice [PDF]
Antioxidants, 2023 Mitochondrial oxidative stress has been implicated in aging and several cardiovascular diseases, including heart failure and cardiomyopathy, ventricular tachycardia, and atrial fibrillation.
Biyi Chen +4 more
openalex +2 more sources
A multicenter study on Leigh syndrome: Disease course and predictors of survival [PDF]
, 2014 Background: Leigh syndrome is a progressive neurodegenerative disorder, associated with primary or secondary dysfunction of the mitochondrial oxidative phosphorylation.
Angst, I.B. (Isabel) de +14 more
core +3 more sources
Hypocapnic hypothesis of Leigh disease
Medical Hypotheses, 2017 Leigh syndrome (LS) is a neurogenetic disorder of children caused by mutations in at least 75 genes which impair mitochondrial bioenergetics. The changes have typical localization in basal ganglia and brainstem, and typical histological picture of spongiform appearance, vascular proliferation and gliosis.
E. Pronicka
openaire +3 more sources