Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency (Q38236847)

31 August 2017

Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency (English)

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31 August 2017

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Maria Andrea Desbats

1

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31 August 2017

Giada Lunardi

2

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31 August 2017

Mara Doimo

3

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31 August 2017

Eva Trevisson

4

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31 August 2017

Leonardo Salviati

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31 August 2017

language of work or name

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5 August 2014

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Journal of Inherited Metabolic Disease

31 August 2017

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31 August 2017

38

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31 August 2017

1

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31 August 2017

145-156

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https://scigraph.springernature.com/pub.10.1007/s10545-014-9749-9

31 August 2017

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cites work

Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency

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Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

The Saccharomyces cerevisiae COQ10 gene encodes a START domain protein required for function of coenzyme Q in respiration

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Plasma coenzyme Q10 response to oral ingestion of coenzyme Q10 formulations

21 January 2018

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Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Coenzyme Q10 distribution in blood is altered in patients with fibromyalgia.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

The diversity of coenzyme Q function

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

The emerging role of coenzyme Q-10 in aging, neurodegeneration, cardiovascular disease, cancer and diabetes mellitus

21 January 2018

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Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency.

21 January 2018

1 reference

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Determination of coenzyme Q10 status in blood mononuclear cells, skeletal muscle, and plasma by HPLC with di-propoxy-coenzyme Q10 as an internal standard.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Renal mitochondrial cytopathies

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Renal involvement in mitochondrial cytopathies

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Heterogeneity of coenzyme Q10 deficiency: patient study and literature review

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Biochemical, physiological and medical aspects of ubiquinone function

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Probucol ameliorates renal and metabolic sequelae of primary CoQ deficiency in Pdss2 mutant mice

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q10 deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Coenzyme Q10 in human blood: native levels and determinants of oxidation during processing and storage.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Focal segmental glomerulosclerosis is associated with a PDSS2 haplotype and, independently, with a decreased content of coenzyme Q10.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Coenzyme Q10 in phenylketonuria and mevalonic aciduria

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

A novel mutation in COQ2 leading to fatal infantile multisystem disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Early mitochondrial dysfunction in long-lived Mclk1+/- mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Cerebellar defects in Pdss2 conditional knockout mice during embryonic development and in adulthood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Coq3 and Coq4 define a polypeptide complex in yeast mitochondria for the biosynthesis of coenzyme Q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

The yeast Coq4 polypeptide organizes a mitochondrial protein complex essential for coenzyme Q biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

para-Aminobenzoic acid is a precursor in coenzyme Q6 biosynthesis in Saccharomyces cerevisiae

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Coenzyme Q₁₀ deficiency in mitochondrial DNA depletion syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Ubiad1 is an antioxidant enzyme that regulates eNOS activity by CoQ10 synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Mutations in COQ2 in familial and sporadic multiple-system atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Involvement of mitochondrial ferredoxin and para-aminobenzoic acid in yeast coenzyme Q biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

21 January 2018

Human CoQ10 deficiencies

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Tissue-specific oxidative stress and loss of mitochondria in CoQ-deficient Pdss2 mutant mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Coenzyme Q deficiency triggers mitochondria degradation by mitophagy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Coenzyme Q10 supplementation rescues renal disease in Pdss2kd/kd mice with mutations in prenyl diphosphate synthase subunit 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Endogenous synthesis of coenzyme Q in eukaryotes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Coenzyme Q deficiency in muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Regulatory aspects of coenzyme Q metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Metabolism and function of coenzyme Q.

21 January 2018

2 references

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

21 January 2018

12 December 2020

RETRACTED: Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotype

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Expression of the human atypical kinase ADCK3 rescues coenzyme Q biosynthesis and phosphorylation of Coq polypeptides in yeast coq8 mutants

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Overexpression of the Coq8 kinase in Saccharomyces cerevisiae coq null mutants allows for accumulation of diagnostic intermediates of the coenzyme Q6 biosynthetic pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Mutant COQ2 in Multiple-System Atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

A Ubiquinone-binding Site Regulates the Mitochondrial Permeability Transition Pore

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Coenzyme Q is an obligatory cofactor for uncoupling protein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9749-9

Ubiquinol-10 ameliorates mitochondrial encephalopathy associated with CoQ deficiency

21 January 2018

1 reference

12 December 2020

Clinical aspects of coenzyme Q10: an update

1 reference

12 December 2020

Coenzyme q10 and statin-induced mitochondrial dysfunction.

1 reference

12 December 2020

Reduced ubiquinone plasma levels in patients with liver cirrhosis and in chronic alcoholics

1 reference

12 December 2020

Secondary coenzyme Q10 deficiency triggers mitochondria degradation by mitophagy in MELAS fibroblasts

1 reference

12 December 2020

Coenzyme Q10 absorption and tolerance in children with Down syndrome: a dose-ranging trial

1 reference

12 December 2020

Rosuvastatin lowers coenzyme Q10 levels, but not mitochondrial adenosine triphosphate synthesis, in children with familial hypercholesterolemia

1 reference

12 December 2020

Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency

1 reference

12 December 2020

Neonatal presentation of coenzyme Q10 deficiency

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12 December 2020

Genetics of coenzyme q10 deficiency

1 reference

12 December 2020

Mutant COQ2 in multiple-system atrophy

1 reference

12 December 2020

Mutant COQ2 in multiple-system atrophy.

1 reference

12 December 2020

Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation

1 reference

12 December 2020

10.1007/S10545-014-9749-9

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Dimensions Publication ID

31 August 2017

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