Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency. (Q41885632)

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28 February 2020

title

Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency (English)

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28 February 2020

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8

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28 February 2020

C Santos-Ocaña

5

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28 February 2020

author name string

Mara Doimo

1

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28 February 2020

Eva Trevisson

2

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28 February 2020

Rannar Airik

3

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28 February 2020

Marc Bergdoll

4

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28 February 2020

Friedhelm Hildebrandt

6

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28 February 2020

Placido Navas

7

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28 February 2020

Leonardo Salviati

9

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28 February 2020

language of work or name

English

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publication date

18 October 2013

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Biochimica et Biophysica Acta

28 February 2020

published in

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volume

1842

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28 February 2020

issue

1

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28 February 2020

page(s)

1-6

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Restoring de novo coenzyme Q biosynthesis in Caenorhabditis elegans coq-3 mutants yields profound rescue compared to exogenous coenzyme Q supplementation

28 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898990

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

5 June 2018

1 reference

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Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898990

The food additive vanillic acid controls transgene expression in mammalian cells and mice

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898990

Coenzyme Q biosynthesis: Coq6 is required for the C5-hydroxylation reaction and substrate analogs rescue Coq6 deficiency

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898990

Coenzyme Q deficiency in muscle

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898990

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898990

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898990

Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898990

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898990

Crystal structures of two aromatic hydroxylases involved in the early tailoring steps of angucycline biosynthesis

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898990

Endogenous synthesis of coenzyme Q in eukaryotes

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898990

Metabolism and function of coenzyme Q.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898990

Ubiquinone is necessary for mouse embryonic development but is not essential for mitochondrial respiration

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898990

Redox environment of the cell as viewed through the redox state of the glutathione disulfide/glutathione couple

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898990

Crystal structure of the p-hydroxybenzoate hydroxylase-substrate complex refined at 1.9 A resolution. Analysis of the enzyme-substrate and enzyme-product complexes

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898990

A novel CRYAB mutation resulting in multisystemic disease

5 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24140869

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.BBADIS.2013.10.007

1 reference

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28 February 2020

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28 February 2020

PubMed publication ID

24140869

1 reference

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