Results 11 to 20 of about 13,047,524 (291)

Double administration of self-complementary AAV9NDUFS4 prevents Leigh disease in Ndufs4-/- mice. [PDF]

Brain, 2022
Leigh disease, or subacute necrotizing encephalomyelopathy, a genetically heterogeneous condition consistently characterized by defective mitochondrial bioenergetics, is the most common oxidative-phosphorylation related disease in infancy.
Corrà S, Cerutti R, Balmaceda V, Viscomi C, Zeviani M.   +4 more
europepmc   +2 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

Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease. [PDF]

J Inherit Metab Dis, 2020
Hydrogen sulfide, a signaling molecule formed mainly from cysteine, is catabolized by sulfide:quinone oxidoreductase (gene SQOR). Toxic hydrogen sulfide exposure inhibits complex IV.
Friederich MW, Elias AF, Kuster A, Laugwitz L, Larson AA, Landry AP, Ellwood-Digel L, Mirsky DM, Dimmock D, Haven J, Jiang H, MacLean KN, Styren K, Schoof J, Goujon L, Lefrancois T, Friederich M, Coughlin CR, Banerjee R, Haack TB, Van Hove JLK.   +20 more
europepmc   +2 more sources

Exclusion of sulfide:quinone oxidoreductase from mitochondria causes Leigh-like disease in mice by impairing sulfide metabolism

The Journal of Clinical Investigation
Leigh 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, Kakeru Shimoda, Eizo Marutani, Masanobu Morita, Maria Miranda, Yusuke Miyazaki, Claire Sinow, Rohit Sharma, Fangcong Dong, Donald B. Bloch, Takaaki Akaike, Fumito Ichinose   +11 more
doaj   +2 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, Tsuji-Akimoto, Sachiko, Niino, Masaaki, Saitoh, Shinji, Yabe, Ichiro, Sasaki, Hidenao   +5 more
openaire   +4 more sources

Leigh Disease [PDF]

Definitions, 2020
openaire   +2 more sources

Usefulness of Magnetic Resonance Spectroscopy for the Initial Diagnosis of Mitochondrial DNA-Associated Leigh Syndrome [PDF]

Annals of Child Neurology, 2022
Purpose Diagnosing Leigh syndrome (LS), a representative mitochondrial disease, remains challenging. Mitochondrial DNA (mtDNA)-associated LS, which is maternally inherited, has relatively well-known genetic variants.
Ji-Hoon Na, Je Hee Shin, Hyunjoo Lee, Young-Mock Lee   +3 more
doaj   +1 more source

Leigh disease

Radiopaedia.org, 2014
A. Goel, M. Venkatesh
semanticscholar   +3 more sources

Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome

Frontiers in Pharmacology, 2021
3-Hydroxyisobutyryl-CoA hydrolase (HIBCH, NM_014362.3) gene mutation can cause HIBCH deficiency, leading to Leigh/Leigh-like disease. To date, few case series have investigated the relationship between metabolites and clinical phenotypes or the effects ...
Junling Wang, Zhimei Liu, Manting Xu, Xiaodi Han, Changhong Ren, Xinying Yang, Chunhua Zhang, Fang Fang   +7 more
doaj   +1 more source

Teamwork makes the dream work: functional collaborations between families, scientists, and healthcare providers to drive progress in the treatment of Leigh Syndrome

Orphanet Journal of Rare Diseases, 2023
Background Leigh syndrome, an inherited neurometabolic disorder, is estimated to be the most common pediatric manifestation of mitochondrial disease. No treatments are currently available for Leigh syndrome due to many hurdles in drug discovery efforts ...
Jesse D. Moreira, Karan K. Smith, Sophia Zilber, Kasey Woleben, Jessica L. Fetterman   +4 more
doaj   +1 more source