Results 21 to 30 of about 15,339 (211)

Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. [PDF]

PLoS Genetics, 2015
Here we demonstrate association of variants in the mitochondrial asparaginyl-tRNA synthetase NARS2 with human hearing loss and Leigh syndrome. A homozygous missense mutation ([c.637G>T; p.Val213Phe]) is the underlying cause of nonsyndromic hearing loss ...
Mariella Simon, Elodie M Richard, Xinjian Wang, Mohsin Shahzad, Vincent H Huang, Tanveer A Qaiser, Prasanth Potluri, Sarah E Mahl, Antonio Davila, Sabiha Nazli, Saege Hancock, Margret Yu, Jay Gargus, Richard Chang, Nada Al-Sheqaih, William G Newman, Jose Abdenur, Arnold Starr, Rashmi Hegde, Thomas Dorn, Anke Busch, Eddie Park, Jie Wu, Hagen Schwenzer, Adrian Flierl, Catherine Florentz, Marie Sissler, Shaheen N Khan, Ronghua Li, Min-Xin Guan, Thomas B Friedman, Doris K Wu, Vincent Procaccio, Sheikh Riazuddin, Douglas C Wallace, Zubair M Ahmed, Taosheng Huang, Saima Riazuddin   +37 more
doaj   +2 more sources

NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model [PDF]

Scientific Reports
Two Jack-Russell Terrier × Chihuahua mixed-breed littermates with Leigh syndrome were investigated. The dogs presented with progressive ataxia, dystonia, and increased lactate levels.
Matthias Christen, Anne Gregor, Rodrigo Gutierrez-Quintana, Jos Bongers, Angie Rupp, Jacques Penderis, G. Diane Shelton, Vidhya Jagannathan, Christiane Zweier, Tosso Leeb   +9 more
doaj   +2 more sources

Leigh syndrome associated with TRMU gene mutations [PDF]

, 2021
Insuficiència hepàtica aguda: Síndrome de Leigh; TRMUInsuficiencia hepática aguda; Síndrome de Leigh; TRMUAcute liver failure; Leigh syndrome; TRMUtRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency causes an early onset ...
García Arumí, Elena, Sala Coromina, Julia, Dougherty-de Miguel, Lucia, Sánchez-Montáñez García-Carpintero, Ángel, del Toro Riera, Mireia, Carreño Gago, Lidia, Arranz Amo, José Antonio, Carnicer Cáceres, Clara, de las Heras, Javier, Lasa Aranzasti, Amaia   +9 more
core   +3 more sources

Leigh Syndrome [PDF]

Journal of Neuropathology & Experimental Neurology, 2015
Leigh syndrome (LS) is the most common pediatric presentation of a defined mitochondrial disease. This progressive encephalopathy is characterized pathologically by the development of bilateral symmetrical lesions in the brainstem and basal ganglia that show gliosis, vacuolation, capillary proliferation, relative neuronal preservation, and by ...
Nicole J, Lake, Matthew J, Bird, Pirjo, Isohanni, Anders, Paetau   +3 more
openaire   +3 more sources

Case Report: m.13513 G>A Mutation in a Chinese Patient With Both Leigh Syndrome and Wolff-Parkinson-White Syndrome

Frontiers in Pediatrics, 2021
A number of causative mutations in mitochondrial and nuclear DNA have been identified for Leigh syndrome, a neurodegenerative encephalopathy, including m.
Jian-Min Liang, Jian-Min Liang, Cui-Juan Xin, Guang-Liang Wang, Xue-Mei Wu, Xue-Mei Wu   +5 more
doaj   +1 more source

Novel NARS2 variant causing leigh syndrome with normal lactate levels

Human Genome Variation, 2022
Leigh syndrome is the most genetically heterogenous phenotype of mitochondrial disease. We describe a patient with Leigh syndrome whose diagnosis had not been confirmed because of normal metabolic screening results at the initial presentation.
Ryosuke Tanaka, Ryo Takeguchi, Mami Kuroda, Nao Suzuki, Yoshio Makita, Kumiko Yanagi, Tadashi Kaname, Satoru Takahashi   +7 more
doaj   +1 more source

Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point Mutation

Frontiers in Neurology, 2021
Background and Purpose: Recent advances in molecular genetic testing have led to a rapid increase in the understanding of the genetics of Leigh syndrome.
Ji-Hoon Na, Min Jung Lee, Chul Ho Lee, Young-Mock Lee, Young-Mock Lee   +4 more
doaj   +1 more source

Generation of human induced pluripotent stem cell (hiPSC) line UOMi001-A from a patient with Leigh-like syndrome harbouring compound heterozygous variants in ECHS1 gene

Stem Cell Research, 2020
Leigh syndrome is a rare multi-organ system disorder that affects less than 1 in 5000 births. In cases where clinical heterogeneity makes some presentations difficult to categorize as Leigh syndrome, but are highly suggestive, those are referred to as ...
Glen Lester Sequiera, Cheryl Rockman-Greenberg, Sanjiv Dhingra   +2 more
doaj   +1 more source

Activated microglia and neuroinflammation as a pathogenic mechanism in Leigh syndrome

Frontiers in Neuroscience, 2023
Neuroinflammation is one of the main mechanisms leading to neuronal death and dysfunction in neurodegenerative diseases. The role of microglia as primary mediators of inflammation is unclear in Leigh syndrome (LS) patients.
Nastaran Daneshgar, Mariah R. Leidinger, Stephanie Le, Marco Hefti, Alessandro Prigione, Dao-Fu Dai   +5 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