Associated Papers
Whole exome sequencing for identifying rare genetic variants related to idiopathic granulomatous mastitis.
Ozer L et al.
Clinical Rheumatology, 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
Oxygen consumption rate for evaluation of COQ2 variants associated with multiple system atrophy.
Yasuda T et al.
Neurogenetics, 2019
The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.
Desbats MA et al.
Human Molecular Genetics, 2016
Decreased Coenzyme Q10 Levels in Multiple System Atrophy Cerebellum.
Barca E et al.
Journal of Neuropathology and Experimental Neurology, 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
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
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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