(Q28115898)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17374725%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

title

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

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17374725%20AND%20SRC:MED&resulttype=core&format=json

Coenzyme Q2, polyprenyltransferase

27 December 2019

main subject

1 reference

ubiquinone biosynthetic process

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Giovanni Montini

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17374725%20AND%20SRC:MED&resulttype=core&format=json

Angeles Rodriguez-Hernandez

27 December 2019

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17374725%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Mario D Cordero

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17374725%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

José A Sánchez-Alcázar

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17374725%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

C Santos-Ocaña

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17374725%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

author name string

Leonardo Salviati

2

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17374725%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Eva Trevisson

3

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17374725%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Catarina Quinzii

6

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17374725%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Michio Hirano

7

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17374725%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Plácido Navas

12

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17374725%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

José M López-Martín

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17374725%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Salvatore DiMauro

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17374725%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

publication date

20 March 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17374725%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

published in

Human Molecular Genetics

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17374725%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

volume

16

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17374725%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

page(s)

1091-1097

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17374725%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

issue

9

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17374725%20AND%20SRC:MED&resulttype=core&format=json

Pyrimidine Nucleotide Biosynthesis in Animals: Genes, Enzymes, and Regulation of UMP Biosynthesis

27 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345105

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345105

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345105

Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345105

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345105

Stimulation of polyprenyl 4-hydroxybenzoate transferase activity by sodium cholate and 3-[(cholamidopropyl)dimethylammonio]-1-propanesulfonate.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345105

Chemotherapy induces an increase in coenzyme Q10 levels in cancer cell lines.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345105

Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345105

The role of ubiquinone in Caenorhabditis elegans longevity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345105

Regulation of ceramide signaling by plasma membrane coenzyme Q reductases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345105

Metabolism and function of coenzyme Q.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345105

Coenzyme Q-responsive Leigh's encephalopathy in two sisters

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345105

Phenotypes of fission yeast defective in ubiquinone production due to disruption of the gene for p-hydroxybenzoate polyprenyl diphosphate transferase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345105

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345105

Cerebellar ataxia and coenzyme Q10 deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345105

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345105

Coenzyme Q10 deficiency and isolated myopathy.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345105

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345105

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345105

Specificity of coenzyme Q10 for a balanced function of respiratory chain and endogenous ubiquinone biosynthesis in human cells.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345105

Uptake of exogenous coenzyme Q and transport to mitochondria is required for bc1 complex stability in yeast coq mutants

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345105

Mitochondrial encephalomyopathy with coenzyme Q10 deficiency

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17374725

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Coenzyme Q is an obligatory cofactor for uncoupling protein function

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17374725

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDM058

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17374725%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17374725%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

2 references