Associated Papers
Compound heterozygosity of a De novo 16q24.1 deletion and missense mutation in COX4I1 leads to developmental regression, intellectual disability, and seizures.
Liu Z et al.
Epilepsia Open, 2025
Mutations of the Electron Transport Chain Affect Lifespan and ROS Levels in C. elegans.
Ősz F et al.
Antioxidants (basel, Switzerland), 2025
Replicative Stress Coincides with Impaired Nuclear DNA Damage Response in COX4-1 Deficiency.
Douiev L et al.
International Journal of Molecular Sciences, 2022
Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies.
Djouadi F et al.
Cells, 2019
Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia.
Abu-Libdeh B et al.
European Journal of Human Genetics : Ejhg, 2017
Select a paper to view details