[HTML][HTML] Primary coenzyme Q10 deficiency overview
Primary deficiency of coenzyme Q 10 (CoQ 10), a lipid component of the mitochondrial
respiratory chain, is classified as a mitochondrial respiratory chain disorder [DiMauro et al …
respiratory chain, is classified as a mitochondrial respiratory chain disorder [DiMauro et al …
Coenzyme Q10 Deficiency
CM Quinzii, LC Lopez - Diagnosis and Management of Mitochondrial …, 2019 - Springer
Abstract Coenzyme Q 10 (CoQ 10) deficiency is defined as the low amount of the lipid
molecule CoQ 10 in muscle and/or other tissue. CoQ 10 deficiencies are autosomal …
molecule CoQ 10 in muscle and/or other tissue. CoQ 10 deficiencies are autosomal …
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency
Primary coenzyme Q10 (CoQ 10) deficiencies are rare, clinically heterogeneous disorders
caused by mutations in several genes encoding proteins involved in CoQ 10 biosynthesis …
caused by mutations in several genes encoding proteins involved in CoQ 10 biosynthesis …
Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic …
A Cotta, CL Alston, S Baptista‐Junior, JF Paim… - JIMD …, 2020 - Wiley Online Library
Abstract Coenzyme Q10 (CoQ10) deficiency is a clinically and genetically heterogeneous
subtype of mitochondrial disease. We report two girls with ataxia and mitochondrial …
subtype of mitochondrial disease. We report two girls with ataxia and mitochondrial …
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities
P Wongkittichote, MLD Lasio, M Magistrati… - Molecular genetics and …, 2023 - Elsevier
Abstract Primary coenzyme Q10 (CoQ 10) deficiency is a group of inborn errors of
metabolism caused by defects in CoQ 10 biosynthesis. Biallelic pathogenic variants in …
metabolism caused by defects in CoQ 10 biosynthesis. Biallelic pathogenic variants in …
Secondary CoQ10 deficiency, bioenergetics unbalance in disease and aging
P Navas, MV Cascajo, M Alcázar‐Fabra… - Biofactors, 2021 - Wiley Online Library
Abstract Coenzyme Q10 (CoQ10) deficiency is a rare disease characterized by a decreased
accumulation of CoQ10 in cell membranes. Considering that CoQ10 synthesis and most of …
accumulation of CoQ10 in cell membranes. Considering that CoQ10 synthesis and most of …
A fatal case of COQ7‐associated primary coenzyme Q10 deficiency
AKY Kwong, ATG Chiu, MHY Tsang, KS Lun… - JIMD …, 2019 - Wiley Online Library
Abstract Background Primary coenzyme Q10 (CoQ10) deficiencies are clinically and
genetically heterogeneous group of disorders associated with defects of genes involved in …
genetically heterogeneous group of disorders associated with defects of genes involved in …
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease
AJ Duncan, M Bitner-Glindzicz, B Meunier… - The American Journal of …, 2009 - cell.com
Coenzyme Q 10 is a mobile lipophilic electron carrier located in the inner mitochondrial
membrane. Defects of coenzyme Q 10 biosynthesis represent one of the few treatable …
membrane. Defects of coenzyme Q 10 biosynthesis represent one of the few treatable …
[PDF][PDF] Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathy
L Leeuwen, CMA Lubout, HP Nijenhuis… - Clinical …, 2022 - research.rug.nl
Primary coenzyme Q10 deficiency (primary COQ10 deficiency) is a rare mitochondrial
respiratory chain disease caused by biallelic variants in: COQ2, COQ4, COQ6, COQ7 …
respiratory chain disease caused by biallelic variants in: COQ2, COQ4, COQ6, COQ7 …
Coenzyme Q and mitochondrial disease
CM Quinzii, M Hirano - Developmental disabilities research …, 2010 - Wiley Online Library
Abstract Coenzyme Q10 (CoQ10) is an essential electron carrier in the mitochondrial
respiratory chain and an important antioxidant. Deficiency of CoQ10 is a clinically and …
respiratory chain and an important antioxidant. Deficiency of CoQ10 is a clinically and …