Associated Papers
Disease models of Leigh syndrome: From yeast to organoids.
Henke MT et al.
Journal of Inherited Metabolic Disease, 2024
Primary mitochondrial diseases: The intertwined pathophysiology of bioenergetic dysregulation, oxidative stress and neuroinflammation.
Aguilar K et al.
European Journal of Clinical Investigation, 2024
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms.
Zanette V et al.
Genetics and Molecular Biology, 2021
Rescue from galactose-induced death of Leigh Syndrome patient cells by pyruvate and NAD.
Iannetti EF et al.
Cell Death & Disease, 2018
A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant.
Baertling F et al.
The Journal of Pediatrics, 2018
Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system.
Varghese F et al.
Human Molecular Genetics, 2015
A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations.
Ortega-Recalde O et al.
Mitochondrion, 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
A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome.
Vilain C et al.
Clinical Genetics, 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
Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology.
Janssen AJ et al.
Clinical Chemistry, 2006
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
Normal serum alanine concentration differentiates transient neonatal lactic acidemia from an inborn error of energy metabolism.
Morava E et al.
Biology of the Neonate, 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
Inhibition of mitochondrial Na+-Ca2+ exchange restores agonist-induced ATP production and Ca2+ handling in human complex I deficiency.
Visch HJ et al.
The Journal of Biological Chemistry, 2004
Mitochondrial complex I mutations in Caenorhabditis elegans produce cytochrome c oxidase deficiency, oxidative stress and vitamin-responsive lactic acidosis.
Grad LI et al.
Human Molecular Genetics, 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
Respiratory chain complex I deficiency.
Triepels RH et al.
American Journal of Medical Genetics, 2001
Mitochondrial respiratory chain diseases and mutations in nuclear DNA: a promising start?
Sue CM et al.
Brain Pathology (zurich, Switzerland), 2000
Isolated complex I deficiency in children: clinical, biochemical and genetic aspects.
Loeffen JL et al.
Human Mutation, 2000
Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.
Schuelke M et al.
Nature Genetics, 1999
Mitigation of NADH: ubiquinone oxidoreductase deficiency by chronic Trolox treatment.
Koopman WJ et al.
Biochimica Et Biophysica Acta, 0