Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy
Background The identification of the molecular basis of mitochondrial disorders continues to
be challenging and expensive. The increasing usage of next-generation sequencing is …
be challenging and expensive. The increasing usage of next-generation sequencing is …
[PDF][PDF] 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 …
[PDF][PDF] A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial …
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 …
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 …
[HTML][HTML] Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency
N Sondheimer, S Hewson, JM Cameron… - Molecular Genetics and …, 2017 - Elsevier
Abstract Coenzyme Q 10 (CoQ 10) or ubiquinone is one of the two electron carriers in the
mitochondrial respiratory chain which has an essential role in the process of oxidative …
mitochondrial respiratory chain which has an essential role in the process of oxidative …
Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency
L Garcia-Corzo, M Luna-Sánchez… - Human molecular …, 2013 - academic.oup.com
Abstract Coenzyme Q10 (CoQ10) or ubiquinone is a well-known component of the
mitochondrial respiratory chain. In humans, CoQ10 deficiency causes a mitochondrial …
mitochondrial respiratory chain. In humans, CoQ10 deficiency causes a mitochondrial …
Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy
T Ling, C Law, K Yan, N Fong, K Wong, K Lee… - Clinica Chimica …, 2019 - Elsevier
Abstract Background Primary CoQ deficiency occurs because of the defective biosynthesis
of coenzyme Q, one of the key components of the mitochondrial electron transport chain …
of coenzyme Q, one of the key components of the mitochondrial electron transport chain …
[HTML][HTML] Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese
MHC Yu, MHY Tsang, S Lai, MSP Ho, DML Tse… - NPJ Genomic …, 2019 - nature.com
Abstract Primary coenzyme Q10 deficiency-7 (COQ10D7) is a rare mitochondrial disease
caused by biallelic mutations in COQ4. Here we report the largest cohort of COQ10D7 to …
caused by biallelic mutations in COQ4. Here we report the largest cohort of COQ10D7 to …
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 …