(Q39837453)

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Human CoQ10 deficiencies

scientific article

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scholarly article

1 reference

Europe PubMed Central

15 September 2017

Human CoQ10 deficiencies (English)

1 reference

Europe PubMed Central

15 September 2017

author name string

C M Quinzii

1

1 reference

Europe PubMed Central

15 September 2017

L C López

2

1 reference

Europe PubMed Central

15 September 2017

A Naini

3

1 reference

Europe PubMed Central

15 September 2017

S DiMauro

4

1 reference

Europe PubMed Central

15 September 2017

M Hirano

5

1 reference

Europe PubMed Central

15 September 2017

publication date

1 January 2008

1 reference

Europe PubMed Central

15 September 2017

1 reference

Europe PubMed Central

15 September 2017

32

1 reference

Europe PubMed Central

15 September 2017

1-4

1 reference

Europe PubMed Central

15 September 2017

113-118

1 reference

Europe PubMed Central

15 September 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=3625975

22 September 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=3625975

22 September 2017

Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625975

22 September 2017

Defective DNA repair and neurodegenerative disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625975

22 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=3625975

22 September 2017

The antioxidant role of coenzyme Q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625975

22 September 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=3625975

22 September 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=3625975

22 September 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=3625975

22 September 2017

Mutations in coenzyme Q10 biosynthetic genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625975

22 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=3625975

22 September 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=3625975

22 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=3625975

22 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=3625975

22 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=3625975

22 September 2017

Isolation of a novel gene, CABC1, encoding a mitochondrial protein that is highly homologous to yeast activity of bc1 complex.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625975

22 September 2017

The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625975

22 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=3625975

22 September 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=3625975

22 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=3625975

25 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=3625975

17 June 2018

Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625975

20 August 2018

Coenzyme Q10 deficiency and isolated myopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625975

20 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625975

20 August 2018

Progression despite replacement of a myopathic form of coenzyme Q10 defect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625975

20 August 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=3625975

20 August 2018

Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625975

2 December 2018

Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/19096106

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/19096106

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/19096106

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human cultured skin fibroblasts survive profound inherited ubiquinone depletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/19096106

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/19096106

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial encephalomyopathy with coenzyme Q10 deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/19096106

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/19096106

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/BIOF.5520320113

1 reference

Europe PubMed Central

15 September 2017

1 reference

Europe PubMed Central

15 September 2017

1 reference

Europe PubMed Central

15 September 2017

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