(Q32884383)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25901006%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

title

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25901006%20AND%20SRC:MED&resulttype=core&format=json

NADH:ubiquinone oxidoreductase subunit A13

6 March 2020

main subject

1 reference

mitochondrial respiratory chain complex I assembly

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25901006%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Pierre-Olivier Guichet

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25901006%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Maxime Hebrard

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25901006%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Guy Lenaers

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25901006%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

2

Majida Charif

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25901006%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

14

Agathe Roubertie

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25901006%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

author name string

Claire Angebault

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25901006%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Naig Guegen

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25901006%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Camille Piro-Megy

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25901006%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Benedicte Mousson de Camaret

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25901006%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Gael Manes

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25901006%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Nicolas Leboucq

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25901006%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

François Rivier

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25901006%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Christian P Hamel

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25901006%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

publication date

21 April 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25901006%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25901006%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

volume

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25901006%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

issue

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25901006%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

page(s)

3948-3955

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25901006%20AND%20SRC:MED&resulttype=core&format=json

Assembly of mitochondrial complex I and defects in disease

6 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV133

NDUFA4 is a subunit of complex IV of the mammalian electron transport chain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV133

Molecular base of biochemical complex I deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV133

Respiratory active mitochondrial supercomplexes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV133

Supramolecular organization of protein complexes in the mitochondrial inner membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV133

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV133

Complex I deficiency: clinical features, biochemistry and molecular genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV133

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV133

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV133

Mitochondrial dysfunction as a cause of optic neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV133

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV133

GRIM-19 function in cancer development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV133

Thioredoxin reductase mediates cell death effects of the combination of beta interferon and retinoic acid

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV133

GRIM-19, a cell death regulatory protein, is essential for assembly and function of mitochondrial complex I

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV133

Viral interferon regulatory factor 1 of Kaposi's sarcoma-associated herpesvirus interacts with a cell death regulator, GRIM19, and inhibits interferon/retinoic acid-induced cell death.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV133

The cell death regulator GRIM-19 is an inhibitor of signal transducer and activator of transcription 3

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV133

The import of the transcription factor STAT3 into mitochondria depends on GRIM-19, a component of the electron transport chain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV133

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV133