Associated Papers
Prenatal Diagnosis of COQ2 Variants in Suspected Coenzyme Q10 Deficiency.
Feng Z et al.
Kidney International Reports, 2025
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
Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency.
Abdelhakim AH et al.
Orphanet Journal of Rare Diseases, 2020
Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants.
Gigante M et al.
Clinical Genetics, 2017
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