Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency (Q28588893)

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23255162%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

title

Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency (English)

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23255162%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1 reference

GOA release 2020-03-11

author

Marta Luna-Sánchez

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23255162%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Germaine Escames

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23255162%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

José Antonio Enríquez

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23255162%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Darío Acuña-Castroviejo

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23255162%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

12

Luis C López

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23255162%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1

Laura García-Corzo

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23255162%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

3

Carolina Doerrier

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23255162%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

author name string

Adela Guarás

5

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23255162%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Rebeca Acín-Pérez

6

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23255162%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Javier Bullejos-Peregrín

7

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23255162%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Ana López

8

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23255162%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

José A García

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23255162%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

publication date

18 December 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23255162%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

number of pages

16

1 reference

based on heuristic

inferred from page(s)

published in

Human Molecular Genetics

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23255162%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

volume

22

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23255162%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

issue

6

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23255162%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

page(s)

1233-1248

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23255162%20AND%20SRC:MED&resulttype=core&format=json

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

21 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

Kinetics of integrated electron transfer in the mitochondrial respiratory chain: random collisions vs. solid state electron channeling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

Respiratory active mitochondrial supercomplexes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

Metabolism and function of coenzyme Q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

Heterogeneity of coenzyme Q10 deficiency: patient study and literature review

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

Coenzyme Q deficiency triggers mitochondria degradation by mitophagy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

Effects of inhibiting CoQ10 biosynthesis with 4-nitrobenzoate in human fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

Mouse homologue of coq7/clk-1, longevity gene in Caenorhabditis elegans, is essential for coenzyme Q synthesis, maintenance of mitochondrial integrity, and neurogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

Overexpression of the Coq8 kinase in Saccharomyces cerevisiae coq null mutants allows for accumulation of diagnostic intermediates of the coenzyme Q6 biosynthetic pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

A new member of the family of di-iron carboxylate proteins. Coq7 (clk-1), a membrane-bound hydroxylase involved in ubiquinone biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

New developments on the functions of coenzyme Q in mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

Respiratory complex III is required to maintain complex I in mammalian mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

The submitochondrial distribution of ubiquinone affects respiration in long-lived Mclk1+/- mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

Comparison of a coq7 deletion mutant with other respiration-defective mutants in fission yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

Molecular characterization of mitochondrial apoptosis-inducing factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

Apoptosis-inducing factor is involved in the regulation of caspase-independent neuronal cell death

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

Glutathione peroxidase 4 senses and translates oxidative stress into 12/15-lipoxygenase dependent- and AIF-mediated cell death

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

Treatment of CoQ10 Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

Clk-1 deficiency induces apoptosis associated with mitochondrial dysfunction in mouse embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

Probucol ameliorates renal and metabolic sequelae of primary CoQ deficiency in Pdss2 mutant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

Molecular dissection of reactive astrogliosis and glial scar formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

High-efficiency deleter mice show that FLPe is an alternative to Cre-loxP

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

A matrix effect-free method for reliable quantification of perfluoroalkyl carboxylic acids and perfluoroalkane sulfonic acids at low parts per trillion levels in dietary samples.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

Isolation of biogenetically competent mitochondria from mammalian tissues and cultured cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

Nuclear factor-kappaB mediates cytoprotection of hydrogen peroxide preconditioning against apoptosis induced by oxidative stress in PC12 cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

Effects of prolonged water washing of tissue samples fixed in formalin on histological staining

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

Measurements of ATP in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

Dentate gyrus and hilus transection blocks seizure propagation and granule cell dispersion in a mouse model for mesial temporal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS530

21 January 2018

Identifiers

DOI

10.1093/HMG/DDS530

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23255162%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23255162%20AND%20SRC:MED&resulttype=core&format=json