Associated Papers
An Alternative Metabolic Pathway of Glucose Oxidation Induced by Mitochondrial Complex I Inhibition: Serinogenesis and Folate Cycling.
Abrosimov R et al.
International Journal of Molecular Sciences, 2025
Molecular Alterations in Core Subunits of Mitochondrial Complex I and Their Relation to Parkinson's Disease.
Epifane-de-Assunção MC et al.
Molecular Neurobiology, 2025
Mutations of the Electron Transport Chain Affect Lifespan and ROS Levels in C. elegans.
Ősz F et al.
Antioxidants (basel, Switzerland), 2025
Analysis of compound heterozygous and homozygous mutations found in peripheral subunits of human respiratory Complex I, NDUFS1, NDUFS2, NDUFS8 and NDUFV1, by modeling in the E. coli enzyme.
Alkhaldi HA et al.
Mitochondrion, 2023
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
Gaining Insight into Mitochondrial Genetic Variation and Downstream Pathophysiology: What Can i(PSCs) Do?
Moreira JD et al.
Genes, 2021
Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies.
Djouadi F et al.
Cells, 2019
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
A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome.
Ngu LH et al.
Biochimica Et Biophysica Acta, 2012
Isolated deficiencies of OXPHOS complexes I and IV are identified accurately and quickly by simple enzyme activity immunocapture assays.
Willis JH et al.
Biochimica Et Biophysica Acta, 2009
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
Application of the yeast Yarrowia lipolytica as a model to analyse human pathogenic mutations in mitochondrial complex I (NADH:ubiquinone oxidoreductase).
Kerscher S et al.
Biochimica Et Biophysica Acta, 2004
Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.
Bénit P et al.
Human Genetics, 2003
Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns.
Triepels RH et al.
The Journal of Biological Chemistry, 2001
Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.
Loeffen J et al.
Annals of Neurology, 2001
Respiratory chain complex I deficiency.
Triepels RH et al.
American Journal of Medical Genetics, 2001
Mitigation of NADH: ubiquinone oxidoreductase deficiency by chronic Trolox treatment.
Koopman WJ et al.
Biochimica Et Biophysica Acta, 0