Associated Papers
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
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.
Hock DH et al.
Genome Medicine, 2025
Mutations of the Electron Transport Chain Affect Lifespan and ROS Levels in C. elegans.
Ősz F et al.
Antioxidants (basel, Switzerland), 2025
Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.
Kaiyrzhanov R et al.
Brain Communications, 2025
Disease models of Leigh syndrome: From yeast to organoids.
Henke MT et al.
Journal of Inherited Metabolic Disease, 2024
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum.
McCormick EM et al.
Annals of Neurology, 2023
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
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse.
Maletzko A et al.
Neurogenetics, 2021
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
Alston CL et al.
American Journal of Human Genetics, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.
Gerber S et al.
Journal of Medical Genetics, 2017
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
Reid ES et al.
Brain : a Journal of Neurology, 2016
Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency.
Ehinger JK et al.
Nature Communications, 2016
Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.
Lehmann D et al.
European Journal of Human Genetics : Ejhg, 2015
Leigh syndrome: neuropathology and pathogenesis.
Lake NJ et al.
Journal of Neuropathology and Experimental Neurology, 2015
Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.
DaRe JT et al.
Bmc Medical Genetics, 2013
Relevance of mitochondrial genetics and metabolism in cancer development.
Gasparre G et al.
Cold Spring Harbor Perspectives in Biology, 2013
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
Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.
Tuppen HA et al.
European Journal of Human Genetics : Ejhg, 2012
Understanding mitochondrial complex I assembly in health and disease.
Mimaki M et al.
Biochimica Et Biophysica Acta, 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
A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations.
Yarham JW et al.
Human Mutation, 2011
Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.
Swalwell H et al.
European Journal of Human Genetics : Ejhg, 2011
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
Calvo SE et al.
Nature Genetics, 2010
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.
Tuppen HA et al.
Brain : a Journal of Neurology, 2010
A conserved arginine residue is critical for stabilizing the N2 FeS cluster in mitochondrial complex I.
Hameedi MA et al.
The Journal of Biological Chemistry, 0