Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention
Brain : a journal of neurology, 2021 Mitochondria are small cellular constituents that generate cellular energy (ATP) by oxidative phosphorylation (OXPHOS). Dysfunction of these organelles is linked to a heterogeneous group of multisystemic disorders, including diabetes, cancer, ageing ...
M. A. van de Wal +10 more
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Leigh syndrome with atypical cerebellar lesions
eNeurologicalSci, 2019 Leigh Syndrome is a neurodegenerative disorder caused by mitochondrial dysfunction, with significant phenotypic and genetic heterogeneity. It usually presents in early life, with a severe prognosis.
Marcos Gil Alberto da Veiga +4 more
doaj +1 more source
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases [PDF]
, 2019 TPK1 mutations are a rare, but potentially treatable, cause of thiamine deficiency. Diagnosis is challenging given the phenotypic overlap that exists with other metabolic and neurological disorders.
Bugiardini, E +11 more
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Modulation of the GABAergic pathway for the treatment of fragile X syndrome. [PDF]
, 2014 Fragile X syndrome (FXS) is the most common genetic cause of intellectual disability and the most common single-gene cause of autism. It is caused by mutations on the fragile X mental retardation gene (FMR1) and lack of fragile X mental retardation ...
Hagerman, Randi J +2 more
core +1 more source
Natural History of Leigh Syndrome: A Study of Disease Burden and Progression
Annals of Neurology, 2021 This observational cohort study aims to quantify disease burden over time, establish disease progression rates, and identify factors that may determine the disease course of Leigh syndrome.
A. Lim +13 more
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A Novel Mitochondrial DNA 8597T>C Mutation of Leigh Syndrome: Report of One Case
Pediatrics and Neonatology, 2012 Leigh syndrome is an early-onset progressive neurodegenerative disorder with a characteristic neuropathology consisting of focal, bilateral lesions in one or more areas of the central nervous system.
Jeng-Dau Tsai +3 more
doaj +1 more source
A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y. [PDF]
, 2006 Thousands die each year from sudden infant death syndrome (SIDS). Neither the cause nor basis for varied prevalence in different populations is understood.
Bowers, Peter N +8 more
core +2 more sources
Potential therapeutic use of the ketogenic diet in autism spectrum disorders. [PDF]
, 2014 The ketogenic diet (KGD) has been recognized as an effective treatment for individuals with glucose transporter 1 (GLUT1) and pyruvate dehydrogenase (PDH) deficiencies as well as with epilepsy.
Dueñas, Nadia +2 more
core +1 more source
Orphanet Journal of Rare Diseases, 2021 Background Leigh syndrome (LS) is a progressive neurodegenerative disorder associated with primary or secondary dysfunction of mitochondrial oxidative phosphorylation and is the most common mitochondrial disease in childhood.
A. Ardissone +17 more
semanticscholar +1 more source
Clinical Diagnosis and Treatment of Leigh Syndrome Based on SURF1: Genotype and Phenotype
Antioxidants, 2021 SURF1 encodes the assembly factor for maintaining the antioxidant of cytochrome c oxidase (COX) stability in the human electron respiratory chain.
Inn-Chi Lee, Kuo-Liang Chiang
semanticscholar +1 more source