Associated Papers
Preclinical and first-in-human evidence of 4-hydroxybenzoic acid for mitochondrial COQ2 deficiency.
Distelmaier F et al.
Brain : a Journal of Neurology, 2025
4-Hydroxybenzoic acid rescues multisystemic disease and perinatal lethality in a mouse model of mitochondrial disease.
Corral-Sarasa J et al.
Cell Reports, 2024
An AlphaFold Structure Analysis of COQ2 as Key a Component of the Coenzyme Q Synthesis Complex.
Vargas-Pérez MLÁ et al.
Antioxidants (basel, Switzerland), 2024
Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
Santos-Ocaña C et al.
International Journal of Molecular Sciences, 2021
Secondary CoQ10 deficiency, bioenergetics unbalance in disease and aging.
Navas P et al.
Biofactors (oxford, England), 2021
Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency.
Abdelhakim AH et al.
Orphanet Journal of Rare Diseases, 2020
The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.
Desbats MA et al.
Human Molecular Genetics, 2016
Analysis of COQ2 gene in multiple system atrophy.
Ogaki K et al.
Molecular Neurodegeneration, 2014
A novel mutation in COQ2 leading to fatal infantile multisystem disease.
Jakobs BS et al.
Journal of the Neurological Sciences, 2013
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