Associated Papers
Disease models of Leigh syndrome: From yeast to organoids.
Henke MT et al.
Journal of Inherited Metabolic Disease, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
Metformin delays neurological symptom onset in a mouse model of neuronal complex I deficiency.
Peralta S et al.
Jci Insight, 2020
Myopathy reversion in mice after restauration of mitochondrial complex I.
Pereira CV et al.
Embo Molecular Medicine, 2020
Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies.
Djouadi F et al.
Cells, 2019
A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome.
Lou X et al.
Journal of Human Genetics, 2018
Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling.
Lopes Costa A et al.
Human Molecular Genetics, 2014
Human mitochondrial NDUFS3 protein bearing Leigh syndrome mutation is more prone to aggregation than its wild-type.
Jaokar TM et al.
Biochimie, 2013
Complex I impairment in mitochondrial diseases and cancer: parallel roads leading to different outcomes.
Iommarini L et al.
The International Journal of Biochemistry & Cell Biology, 2013
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.
Koene S et al.
Journal of Inherited Metabolic Disease, 2012
Activation of peroxisome proliferator-activated receptor pathway stimulates the mitochondrial respiratory chain and can correct deficiencies in patients' cells lacking its components.
Bastin J et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Molecular diagnostics of mitochondrial disorders.
Rötig A et al.
Biochimica Et Biophysica Acta, 2004
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.
Bénit P et al.
Journal of Medical Genetics, 2004
Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.
Johnstone T et al.
Molecular Genetics and Metabolism, 0
Mitochondrial Ultrastructural Defects in NDUFS3-Related Disorder.
Samanta D et al.
Journal of Pediatric Neurosciences, 0