Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects. [PDF]
PLoS ONE, 2010 BackgroundCoenzyme Q(10) (CoQ(10)) and its analogs are used therapeutically by virtue of their functions as electron carriers, antioxidant compounds, or both.
Luis C López +8 more
doaj +7 more sources
Lethal neonatal CoQ deficiency due to a COQ9 variant
Journal of Pediatric Neurosciences, 2018 Josef Finsterer +4 more
doaj +5 more sources
Probucol ameliorates renal and metabolic sequelae of primary CoQ deficiency in Pdss2 mutant mice [PDF]
EMBO Molecular Medicine, 2011 Therapy of mitochondrial respiratory chain diseases is complicated by limited understanding of cellular mechanisms that cause the widely variable clinical findings. Here, we show that focal segmental glomerulopathy-like kidney disease in Pdss2 mutant animals with primary coenzyme Q (CoQ) deficiency is significantly ameliorated by oral treatment with ...
Falk, Marni J +15 more
openaire +5 more sources
Case Report: Pediatric nephrology—expanding the genotypic spectrum of COQ2-related nephropathy with a novel splice site variant in CoQ10-responsive SRNS [PDF]
Frontiers in MedicineCoenzyme Q10, also known as CoQ10, CoQ, and ubiquinone is an essential component of the mitochondrial electron-transport chain and functions as an energy transfer molecule as well as a redox carrier and is a lipid-soluble antioxidant.
Yu-Ren Huang +5 more
doaj +2 more sources
Statin-Induced Coenzyme Q Deficiency Induces Metabolic Reprogramming in Astrocytes [PDF]
AntioxidantsStatins are commonly used cholesterol-lowering drugs, but their effects on astrocyte oxidative metabolism are poorly understood. To investigate this, rat astrocytes were exposed to 200 nM atorvastatin or simvastatin for 6 days and then assessed for ...
Krzysztof Wojcicki +4 more
doaj +2 more sources
Finerenone Use in Coenzyme Q8B–Related Focal Segmental Glomerulosclerosis [PDF]
Kidney MedicineGenetic focal segmental glomerulosclerosis (FSGS) caused by mutations affecting coenzyme Q (CoQ) biosynthesis is a rare podocytopathy that is associated with poor response to immunosuppression.
Manaf Aljishi +3 more
doaj +2 more sources
Genetic bases and clinical manifestations of coenzyme Q 10 (CoQ 10 ) deficiency
Journal of Inherited Metabolic Disease, 2014 Abstract Coenzyme Q 10 is a remarkable lipid involved in many cellular processes such as energy production through the mitochondrial respiratory chain (RC), beta‐oxidation of fatty acids, and pyrimidine biosynthesis, but it is also one of the main cellular antioxidants.
Maria Andrea, Desbats +4 more
openaire +3 more sources
Functional Testing of Human Disease Missense Variants in Caenorhabditis elegans by Targeting COQ2 Variants [PDF]
Kidney International ReportsIntroduction: Missense variants introduce single amino acid substitutions into proteins that might affect their functions and cause genetic diseases, including kidney disease.
Gee-Yoon Lee +5 more
doaj +2 more sources
BPM31510 Increases the CoQ Pool in Chemically Induced CoQ-Deficient Cells, CoQ-Deficient Patient Fibroblasts, and in Metabolically Active Murine Tissues. [PDF]
FASEB JCoenzyme Q10 (CoQ10) is a lipid-soluble redox cofactor essential for mitochondrial electron transport, membrane stabilization, and antioxidant defense in its reduced form. Broad clinical utility has been hampered by poor oral bioavailability and low tissue uptake using nutraceutical formulations.
Aristizabal-Henao JJ +18 more
europepmc +4 more sources
Severe Neurological Presentation in Siblings With COQ5‐Related Primary Coenzyme Q10 Deficiency: Expanding Clinical and Molecular Spectrum [PDF]
JIMD ReportsCoenzyme Q10 (CoQ10) is a coenzyme and antioxidant involved in multiple bioenergetic and biosynthetic processes, particularly within mitochondria. The biosynthesis of CoQ10 is a tightly regulated process that involves multiple enzymes, including the ...
Parith Wongkittichote +6 more
doaj +2 more sources