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
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.
Mukherjee S et al.
Mitochondrion, 2020
Mutations in NDUFS1 Cause Metabolic Reprogramming and Disruption of the Electron Transfer.
Ni Y et al.
Cells, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies.
Djouadi F et al.
Cells, 2019
A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy.
Kashani A et al.
Neurogenetics, 2014
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
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
Mouse studies to shape clinical trials for mitochondrial diseases: high fat diet in Harlequin mice.
Schiff M et al.
Plos One, 2011
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
MR spectroscopy and serial magnetic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical course.
Zafeiriou DI et al.
Neuropediatrics, 2008
Activation of peroxisome proliferator-activated receptor pathway stimulates the mitochondrial respiratory chain and can correct deficiencies in patients' cells lacking its components.
Bastin J et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Molecular diagnostics of mitochondrial disorders.
Rötig A et al.
Biochimica Et Biophysica Acta, 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
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.
Bénit P et al.
American Journal of Human Genetics, 2001