Associated Papers
Whole-Exome Sequencing for Molecular Diagnosis of Paediatric Nephrotic Syndrome in Africa: A Call for Implementation.
Gcobo T et al.
Genes, 2025
Coenzyme Q10 deficiency disrupts lipid metabolism by altering cholesterol homeostasis in neurons.
Pesini A et al.
Free Radical Biology & Medicine, 2025
Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility.
Manisha KY et al.
Neurology. Genetics, 2024
Genetic stratification reveals COL4A variants and spontaneous remission in Egyptian children with proteinuria in the first 2 years of life.
Elshafey SA et al.
Acta Paediatrica (oslo, Norway : 1992), 2023
Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
Santos-Ocaña C et al.
International Journal of Molecular Sciences, 2021
Coenzyme Q10 modulates sulfide metabolism and links the mitochondrial respiratory chain to pathways associated to one carbon metabolism.
González-García P et al.
Human Molecular Genetics, 2020
Redefining infantile-onset multisystem phenotypes of coenzyme Q10-deficiency in the next-generation sequencing era.
Berardo A et al.
Journal of Translational Genetics and Genomics, 2020
Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency.
Iványi B et al.
Pediatric Nephrology (berlin, Germany), 2018
Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.
Hughes BG et al.
Scientific Reports, 2017
Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.
Ziosi M et al.
Embo Molecular Medicine, 2017
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Biochemical diagnosis of coenzyme q10 deficiency.
Yubero D et al.
Molecular Syndromology, 2014
The molecular genetics of coenzyme Q biosynthesis in health and disease.
Laredj LN et al.
Biochimie, 2014
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.
Salviati L et al.
Journal of Medical Genetics, 2012
Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency.
Quinzii CM et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2008