Associated Papers
Disease models of Leigh syndrome: From yeast to organoids.
Henke MT et al.
Journal of Inherited Metabolic Disease, 2024
Generation of an induced pluripotent stem cell line (IUFi002-A) from a Leigh syndrome patient carrying mutations in the NDUFS1 gene.
Valente O et al.
Stem Cell Research, 2022
Neuroligin-mediated neurodevelopmental defects are induced by mitochondrial dysfunction and prevented by lutein in C. elegans.
Maglioni S et al.
Nature Communications, 2022
35551180 (PubMed )
Supplement: 41467_2022_29972_MOESM9_ESM.docx
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
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
22644603 (PubMed )
Supplement: 10545_2012_9492_MOESM1_ESM.xls › Blad1
Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells.
Invernizzi F et al.
Mitochondrion, 2012
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
Haack TB et al.
Journal of Medical Genetics, 2012
Mitochondrial Oxidative Stress due to Complex I Dysfunction Promotes Fibroblast Activation and Melanoma Cell Invasiveness.
Taddei ML et al.
Journal of Signal Transduction, 2012
Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies.
Hoefs SJ et al.
Molecular Genetics and Metabolism, 2010
The antioxidant Trolox restores mitochondrial membrane potential and Ca2+ -stimulated ATP production in human complex I deficiency.
Distelmaier F et al.
Journal of Molecular Medicine (berlin, Germany), 2009
Decreased agonist-stimulated mitochondrial ATP production caused by a pathological reduction in endoplasmic reticulum calcium content in human complex I deficiency.
Visch HJ et al.
Biochimica Et Biophysica Acta, 2006
Mitochondrial network complexity and pathological decrease in complex I activity are tightly correlated in isolated human complex I deficiency.
Koopman WJ et al.
American Journal of Physiology. Cell Physiology, 2005
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.
Bénit P et al.
American Journal of Human Genetics, 2001
Mitigation of NADH: ubiquinone oxidoreductase deficiency by chronic Trolox treatment.
Koopman WJ et al.
Biochimica Et Biophysica Acta, 0
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