Associated Papers
NDUFS8-Related Leigh Syndrome Mimicking a Leukodystrophy.
Hogue B et al.
Journal of Child Neurology, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
Disease models of Leigh syndrome: From yeast to organoids.
Henke MT et al.
Journal of Inherited Metabolic Disease, 2024
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
Blickhäuser B et al.
Brain : a Journal of 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
Expanding the phenotype of DNAJC30-associated Leigh syndrome.
Zawadzka M et al.
Clinical Genetics, 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
Heterozygous Cystic Fibrosis Transmembrane Regulator Gene Missense Variants Are Associated With Worse Cardiac Function in Patients With Duchenne Muscular Dystrophy.
Jiang X et al.
Journal of the American Heart Association, 2020
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
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
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
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
Disorders related to mitochondrial membranes: pathology of the respiratory chain and neurodegeneration.
Di Donato S
Journal of Inherited Metabolic Disease, 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