Associated Papers
Loss of heterozygosity exposes germline mutations in complex I and drives Warburg metabolism in oncocytic carcinoma of the thyroid.
de la Calle Arregui C et al.
Biorxiv : the Preprint Server for Biology, 2025
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
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
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
37273706 (PubMed )
Supplement: Table_2.xlsx › Blad1
Lip cyanosis as the first symptom of Leigh syndrome associated with mitochondrial complex I deficiency due to a compound heterozygous NDUFS1 mutation: A case report.
Men L et al.
Medicine, 2022
Mutations in NDUFS1 Cause Metabolic Reprogramming and Disruption of the Electron Transfer.
Ni Y et al.
Cells, 2019
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
Molecular base of biochemical complex I deficiency.
Hoefs SJ et al.
Mitochondrion, 2012
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
Haack TB et al.
Journal of Medical Genetics, 2012
Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies.
Hoefs SJ et al.
Molecular Genetics and Metabolism, 2010
Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects.
Pagniez-Mammeri H et al.
Molecular Genetics and Metabolism, 2009
Leukoencephalopathy with vanishing white matter caused by compound heterozygous mutations in mitochondrial complex I NDUFS1 subunit.
Pagniez-Mammeri H et al.
Molecular Genetics and Metabolism, 0
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