Results 11 to 20 of about 12,985,405 (284)
Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase [PDF]
Orphanet Journal of Rare Diseases, 2013 BackgroundSynthesis and apoenzyme attachment of lipoic acid have emerged as a new complex metabolic pathway. Mutations in several genes involved in the lipoic acid de novo pathway have recently been described (i.e., LIAS, NFU1, BOLA3, IBA57), but no ...
Yohan Sorèze +17 more
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Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum [PDF]
Annals of Neurology, 2023 Primary mitochondrial diseases (PMDs) are heterogeneous disorders caused by inherited mitochondrial dysfunction. Classically defined neuropathologically as subacute necrotizing encephalomyelopathy, Leigh syndrome spectrum (LSS) is the most frequent ...
Elizabeth M. McCormick +11 more
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Interferon‐gamma contributes to disease progression in the Ndufs4 (−/−) model of Leigh syndrome [PDF]
Neuropathology and Applied NeurobiologyLeigh syndrome (LS), the most common paediatric presentation of genetic mitochondrial dysfunction, is a multi‐system disorder characterised by severe neurologic and metabolic abnormalities.
Allison R. Hanaford +14 more
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Leighs disease: powerhouse failure
MRIMS Journal of Health Sciences, 2018 Leigh disease, also known as juvenile sub acute necrotizing encephalomyelopathy, Leigh syndrome, infantile sub acute necrotizing encephalomyelopathy, and sub acute necrotizing encephalomyelopathy (SNEM), is a rare inherited neurometabolic disorder that ...
Himanshu Dua, Radhika Mantry
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Leigh Syndrome: A Comprehensive Review of the Disease and Present and Future Treatments [PDF]
BiomedicinesLeigh syndrome (LS) is a severe neurodegenerative condition with an early onset, typically during early childhood or infancy. The disorder exhibits substantial clinical and genetic diversity.
Giuseppe Magro +2 more
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Leigh Syndrome: A Tale of Two Genomes
Frontiers in Physiology, 2021 Leigh syndrome is a rare, complex, and incurable early onset (typically infant or early childhood) mitochondrial disorder with both phenotypic and genetic heterogeneity.
Ajibola B Bakare +2 more
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Teaching Neuro Images : Neuroradiologic evolution of Leigh disease [PDF]
Neurology, 2016 A 2-year-old girl with no significant family history presented with motor developmental delay and strabismus. MRI revealed unilateral basal ganglia and brainstem lesions (figure 1). Eighteen months later, she developed acute onset right arm weakness, leading to a diagnosis of multiphasic disseminated encephalomyelitis.
Ng, Yi Shiau +3 more
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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 ...
Sarah E Mahl +2 more
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Disease models of Leigh syndrome: From yeast to organoids [PDF]
Journal of Inherited Metabolic DiseaseLeigh syndrome (LS) is a severe mitochondrial disease that results from mutations in the nuclear or mitochondrial DNA that impairs cellular respiration and ATP production. Mutations in more than 100 genes have been demonstrated to cause LS.
Marie‐Thérèse Henke +2 more
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