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
National Rapid Genome Sequencing in Neonatal Intensive Care.
Marom D et al.
Jama Network Open, 2024
38386321 (PubMed )
Supplement: jamanetwopen-e240146-s002.xlsx › eTable_2
Mitochondrial Cardiomyopathy: Molecular Epidemiology, Diagnosis, Models, and Therapeutic Management.
Yang J et al.
Cells, 2022
Mutations in the Yeast Cox12 Subunit Severely Compromise the Activity of the Mitochondrial Complex IV.
Das S et al.
Biochemistry. Biokhimiia, 2021
Gaining Insight into Mitochondrial Genetic Variation and Downstream Pathophysiology: What Can i(PSCs) Do?
Moreira JD et al.
Genes, 2021
Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes.
Mazzaccara C et al.
International Journal of Molecular Sciences, 2021
Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.
Mukherjee S et al.
Mitochondrion, 2020
Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies.
Djouadi F et al.
Cells, 2019
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
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