Associated Papers
Functional Testing of Human Disease Missense Variants in Caenorhabditis elegans by Targeting COQ2 Variants.
Lee GY et al.
Kidney International Reports, 2025
Coenzyme Q10 deficiency disrupts lipid metabolism by altering cholesterol homeostasis in neurons.
Pesini A et al.
Free Radical Biology & Medicine, 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
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
A steroid-resistant nephrotic syndrome in an infant resulting from a consanguineous marriage with COQ2 and ARSB gene mutations: a case report.
Wu X et al.
Bmc Medical Genetics, 2019
The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.
Desbats MA et al.
Human Molecular Genetics, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
A novel mutation in COQ2 leading to fatal infantile multisystem disease.
Jakobs BS et al.
Journal of the Neurological Sciences, 2013
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-
COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.
Diomedi-Camassei F et al.
Journal of the American Society of Nephrology : Jasn, 2007
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