A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease (Q24645475)

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

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scholarly article

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

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based on heuristic

inferred from title

mitochondrial disease

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based on heuristic

inferred from title

Michael I Sadowski

object named as

Michael I Sadowski

9

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Brigitte Meunier

object named as

Brigitte Meunier

3

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object named as

Luis C López

6

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John Anthony Hardy

10

object named as

John Hardy

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Andrew Singleton

11

object named as

Andrew Singleton

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13

object named as

Shamima Rahman

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Maria Bitner-Glindzicz

2

object named as

Maria Bitner-Glindzicz

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author name string

Andrew J Duncan

1

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Harry Costello

4

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Iain P Hargreaves

5

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Michio Hirano

7

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Catarina M Quinzii

8

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Peter T Clayton

12

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language of work or name

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publication date

May 2009

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American Journal of Human Genetics

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84

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5

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558-66

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Runs of homozygosity in European populations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

7 April 2017

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

7 April 2017

Comparative protein modelling by satisfaction of spatial restraints

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

7 April 2017

Saccharomyces cerevisiae Coq9 polypeptide is a subunit of the mitochondrial coenzyme Q biosynthetic complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

7 April 2017

COQ9, a new gene required for the biosynthesis of coenzyme Q in Saccharomyces cerevisiae

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

7 April 2017

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

7 April 2017

Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

7 April 2017

A graph-theory algorithm for rapid protein side-chain prediction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

7 April 2017

3D-Jury: a simple approach to improve protein structure predictions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

7 April 2017

Human CoQ10 deficiencies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

27 September 2017

Coenzyme Q10: is there a clinical role and a case for measurement?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

27 September 2017

Benchmarking template selection and model quality assessment for high-resolution comparative modeling.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

27 September 2017

Infantile and pediatric quinone deficiency diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

27 September 2017

Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

27 September 2017

Human coenzyme Q10 deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

27 September 2017

Application of genome-wide single nucleotide polymorphism typing: simple association and beyond

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

27 September 2017

Muscle coenzyme Q10 level in statin-related myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

27 September 2017

Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

27 September 2017

Metabolism and function of coenzyme Q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

27 September 2017

Prediction of disordered regions in proteins from position specific score matrices

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

27 September 2017

The European Bioinformatics Institute's data resources.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

27 September 2017

Coenzyme Q-responsive Leigh's encephalopathy in two sisters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

27 September 2017

A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

27 September 2017

Cerebellar ataxia and coenzyme Q10 deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

30 May 2018

Evaluation of protein models by atomic solvation preference.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

30 May 2018

Extended tracts of homozygosity in outbred human populations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

28 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

28 November 2018

Familial cerebellar ataxia with muscle coenzyme Q10 deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681001

28 November 2018

Mitochondrial encephalomyopathy with coenzyme Q10 deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/19375058

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/19375058

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal presentation of coenzyme Q10 deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/19375058

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/19375058

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The bioavailability of coenzyme Q10 supplements available in New Zealand differs markedly

1 reference

https://pubmed.ncbi.nlm.nih.gov/19375058

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/19375058

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2009.03.018

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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