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
Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1 H HR-MAS NMR.
Meyer C et al.
Journal of Inherited Metabolic Disease, 2024
Exome analysis focusing on epilepsy-related genes in children and adults with sudden unexplained death.
Buerki SE et al.
Seizure, 2023
Genetic aberration analysis of mitochondrial respiratory complex I implications in the development of neurological disorders and their clinical significance.
Dar GM et al.
Ageing Research Reviews, 2023
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Metformin delays neurological symptom onset in a mouse model of neuronal complex I deficiency.
Peralta S et al.
Jci Insight, 2020
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.
Mukherjee S et al.
Mitochondrion, 2020
Myopathy reversion in mice after restauration of mitochondrial complex I.
Pereira CV et al.
Embo Molecular Medicine, 2020
Molecular basis of Leigh syndrome: a current look.
Schubert Baldo M et al.
Orphanet Journal of Rare Diseases, 2020
Disease-causing mutations in subunits of OXPHOS complex I affect certain physical interactions.
Barshad G et al.
Scientific Reports, 2019
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
Correction: A novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome.
Lou X et al.
Journal of Human Genetics, 2018
Germline SAMD9 mutation in siblings with monosomy 7 and myelodysplastic syndrome.
Schwartz JR et al.
Leukemia, 2017
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.
Legati A et al.
Biochimica Et Biophysica Acta, 2016
Cell Type-Specific Modulation of Respiratory Chain Supercomplex Organization.
Sun D et al.
International Journal of Molecular Sciences, 2016
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
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
Haack TB et al.
Journal of Medical Genetics, 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