COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency (Q35059346)

6 August 2017

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COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency (English)

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Masakazu Kohda

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Sabine Scholl-Bürgi

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Daniela Karall

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Sabrina Dusi

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Federica Invernizzi

Federica Invernizzi

5

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Nicola Laforgia

Nicola Laforgia

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Nicoletta Resta

Nicoletta Resta

13

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Daniele Ghezzi

Daniele Ghezzi

30

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Rosalba Carrozzo

Rosalba Carrozzo

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Johannes A Mayr

Johannes A Mayr

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Holger Prokisch

Holger Prokisch

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Enrico Bertini

Enrico Bertini

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Massimo Zeviani

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Massimo Zeviani

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Costanza Lamperti

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Tobias B Haack

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Tim M Strom

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Peter Freisinger

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Uwe Ahting

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Kei Murayama

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Yasushi Okazaki

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Akira Ohtake

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Gloria Brea-Calvo

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Laura Kremer

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Christine Fauth

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Elisabeth Graf

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Daniela Verrigni

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Diego Martinelli

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Atilano Lacson

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Placido Navas

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6 August 2017

language of work or name

English

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publication date

1 February 2015

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American Journal of Human Genetics

6 August 2017

published in

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6 August 2017

volume

96

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issue

2

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6 August 2017

page(s)

309-317

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Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.

6 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

The effect of coenzyme Q10 on morbidity and mortality in chronic heart failure: results from Q-SYMBIO: a randomized double-blind trial

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

Genetics of coenzyme q10 deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

Clinical presentations of coenzyme q10 deficiency syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

The clinical maze of mitochondrial neurology

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

Coenzyme Q--biosynthesis and functions

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

Biosynthesis and bioproduction of coenzyme Q10 by yeasts and other organisms

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

Influence of Coenzyme Q_{10} on release of pro-inflammatory chemokines in the human monocytic cell line THP-1.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

Metabolism and function of coenzyme Q.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

Cerebellar ataxia and coenzyme Q10 deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

Coenzyme Q-responsive Leigh's encephalopathy in two sisters

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

Evidence of plasma CoQ10-lowering effect by HMG-CoA reductase inhibitors: a double-blind, placebo-controlled study

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

Distribution and redox state of ubiquinones in rat and human tissues

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

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).

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

The mitochondrial proteome database: MitoP2.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

Statin cardiomyopathy? A potential role for Co-Enzyme Q10 therapy for statin-induced changes in diastolic LV performance: description of a clinical protocol

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

Familial cerebellar ataxia with muscle coenzyme Q10 deficiency

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

25 October 2018

Mitochondrial disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320255

Mammalian dihydroorotate--ubiquinone reducatse complex. II. Correlation with cytochrome oxidase, mode of linkage with the cytochrome chain, and general properties

9 December 2018

1 reference

12 December 2020

Ratio of low-density lipoprotein cholesterol to ubiquinone as a coronary risk factor

1 reference

12 December 2020

Long-term efficacy and safety of coenzyme Q10 therapy for idiopathic dilated cardiomyopathy

1 reference

12 December 2020

Coenzyme Q10 in dilated cardiomyopathy

1 reference

12 December 2020

Coenzyme Q is an obligatory cofactor for uncoupling protein function

1 reference

12 December 2020

10.1016/J.AJHG.2014.12.023

Identifiers

DOI

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6 August 2017

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6 August 2017

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