Associated Papers
The cytochrome c oxidase subunit COX6B1 is required for redox-sensitive early assembly and late stabilization of complex IV.
Čunátová K et al.
The Journal of Biological Chemistry, 2025
A novel homozygous pathogenic missense variant in COX6B1: Further delineation of the phenotype.
Jennions E et al.
American Journal of Medical Genetics. Part A, 2024
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
Mutations in the Yeast Cox12 Subunit Severely Compromise the Activity of the Mitochondrial Complex IV.
Das S et al.
Biochemistry. Biokhimiia, 2021
Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.
Abdulhag UN et al.
European Journal of Human Genetics : Ejhg, 2015
Quaternary protein modeling to predict the function of DNA variation found in human mitochondrial cytochrome c oxidase.
Horan MP et al.
Journal of Human Genetics, 2013
Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.
Massa V et al.
American Journal of Human Genetics, 2008
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