Disruption of adaptive immunity does not attenuate disease in the Ndufs4(-/-) model of Leigh syndrome [0.03%]
适应性免疫的干扰不会减弱Ndufs4基因敲除莱氏综合征模型中的疾病发展
Allison R Hanaford,Asheema Khanna,Vivian Truong et al.
Allison R Hanaford et al.
Leigh syndrome (LS) is the most common pediatric presentation of genetic mitochondrial disease and characterized by neurological and metabolic abnormalities. The hallmark of the disease is the presence of progressive, bilateral, symmetric n...
Safe use of sugammadex and 5% dextrose in 0.45% saline in Leigh syndrome [0.03%]
莱氏综合征患者使用硫酸司美丁ene和5％葡萄糖在0.45％生理盐水中的安全性
Chikeluba V Okafor,Dmitry Tumin,Sunny R Cai et al.
Chikeluba V Okafor et al.
The therapeutic potential of a polyunsaturated fatty acid-enriched high-fat diet in Leigh syndrome: Insights from a preclinical model [0.03%]
长链多不饱和脂肪酸丰富型高脂饮食对莱氏综合征治疗潜能的研究——来自临床前模型的见解
Luciano Willemse,Karin Terburgh,Roan Louw
Luciano Willemse
Introduction: Leigh syndrome is often caused by Ndufs4 mutations. The Ndufs4 knockout (KO) mouse model recapitulates key disease features, including systemic inflammation, neurodegeneration, and motor deficits. While diet...
Bailyn Hogue,Mekka R Garcia,Connolly G Steigerwald et al.
Bailyn Hogue et al.
Leigh syndrome is a progressive infantile neurodegenerative disorder of mitochondrial metabolism that often leads to decompensation in the setting of metabolic stress. It is genetically heterogenous with varied inheritance patterns. One sub...
A leigh syndrome mutation perturbs long-range energy coupling in respiratory complex I [0.03%]
莱氏综合征突变扰乱呼吸链复合物I中的长程能量传递
Franziska Hoeser,Patricia Saura,Caroline Harter et al.
Franziska Hoeser et al.
Respiratory complex I is a central enzyme of cellular energy metabolism that couples electron transfer with proton translocation across a biological membrane. In doing so, it powers oxidative phosphorylation that drives energy consuming pro...
Leigh Syndrome: A Comprehensive Review of the Disease and Present and Future Treatments [0.03%]
莱氏综合征：疾病及当前和未来治疗的综合回顾
Giuseppe Magro,Vincenzo Laterza,Federico Tosto
Giuseppe Magro
Leigh 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. From a clinical standpoint, Leigh syndrome showc...
Wei-Sheng Lin
Wei-Sheng Lin
Leigh syndrome spectrum is the most common form of childhood-onset mitochondrial encephalopathy and is characterized by progressive neurodegeneration. Treatment options for this condition remain limited to date. Nonetheless, two lines of re...
Arya Behzadi,Pooya Poormehr,Hedyeh Saneifard et al.
Arya Behzadi et al.
Diabetes is one of the most common chronic disorders in the world, characterized by chronic hyperglycemia. Among the rare causes of diabetes, Leigh syndrome is a rare genetic mitochondrial disorder with unusual manifestations like neurologi...
NADH Reductive Stress and Its Correlation with Disease Severity in Leigh Syndrome: A Pilot Study Using Patient Fibroblasts and a Mouse Model [0.03%]
莱格综合征中NADH还原胁迫及其与疾病严重程度相关性的试点研究：利用患者成纤维细胞和小鼠模型进行的研究
Tamaki Ishima,Natsuka Kimura,Mizuki Kobayashi et al.
Tamaki Ishima et al.
Nicotinamide adenine dinucleotide (NAD) is a critical cofactor in mitochondrial energy production. The NADH/NAD+ ratio, reflecting the balance between NADH (reduced) and NAD+ (oxidized), is a key marker for the severity of mitochondrial dis...
Complex I deficiency remains the most frequent cause of Leigh syndrome spectrum [0.03%]
复杂I型缺乏仍然是莱格综合症最常见的原因
Shamima Rahman
Shamima Rahman
This scientific commentary refers to 'Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment', by Kaiyrzhanov et al. (https://doi.org/10.1093/braincomms/fcae453). ...
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