Associated Papers
Structural robustness of the NADH binding site in NADH:ubiquinone oxidoreductase (complex I).
Göppert-Asadollahpour S et al.
Biochimica Et Biophysica Acta. Bioenergetics, 2024
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
Clinical and Genetic Spectrum of 50 Children with Inborn Errors of Metabolism from Central India.
Passi GR et al.
Indian Journal of Pediatrics, 2022
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
Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling.
Lopes Costa A et al.
Human Molecular Genetics, 2014
A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations.
Ortega-Recalde O et al.
Mitochondrion, 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
22644603 (PubMed )
Supplement: 10545_2012_9492_MOESM1_ESM.xls › Blad1
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
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