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
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
Emerging Roles of NDUFS8 Located in Mitochondrial Complex I in Different Diseases.
Wang S et al.
Molecules (basel, Switzerland), 2022
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
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Disease-causing mutations in subunits of OXPHOS complex I affect certain physical interactions.
Barshad G et al.
Scientific Reports, 2019
The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.
Vincent AE et al.
Scientific Reports, 2016
Mitochondrial complex I-linked disease.
Rodenburg RJ
Biochimica Et Biophysica Acta, 2016
Mitochondrial Proteins Containing Coiled-Coil-Helix-Coiled-Coil-Helix (CHCH) Domains in Health and Disease.
Modjtahedi N et al.
Trends in Biochemical Sciences, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome.
Marina AD et al.
Jimd Reports, 2013
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.
Tuppen HA et al.
Brain : a Journal of Neurology, 2010
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
Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology.
Janssen AJ et al.
Clinical Chemistry, 2006
Neurospora strains harboring mitochondrial disease-associated mutations in iron-sulfur subunits of complex I.
Duarte M et al.
Genetics, 2005
Unusual features of mitochondrial degeneration in skeletal muscle of patients with nuclear complex I mutation.
Dinopoulos A et al.
Acta Neuropathologica, 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
Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations.
Procaccio V et al.
Neurology, 2004
Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency.
Ugalde C 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
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
A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome.
Petruzzella V et al.
Human Molecular Genetics, 2001
Respiratory chain complex I deficiency.
Triepels RH et al.
American Journal of Medical Genetics, 2001
Application of the obligate aerobic yeast Yarrowia lipolytica as a eucaryotic model to analyse Leigh syndrome mutations in the complex I core subunits PSST and TYKY.
Ahlers PM et al.
Biochimica Et Biophysica Acta, 2000
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
The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.
Loeffen J et al.
American Journal of Human Genetics, 1998