(Q56592348)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21607760%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7 (English)

1 reference

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2 February 2020

1

1 reference

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2 February 2020

Simon Edvardson

2

1 reference

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2 February 2020

Chaim Jalas

7

1 reference

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2 February 2020

author name string

Avraham Shaag

3

1 reference

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2 February 2020

Reeval Segel

5

1 reference

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2 February 2020

Chaya Miller

6

1 reference

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2 February 2020

Orly Elpeleg

8

1 reference

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2 February 2020

Wendy K Chung

4

1 reference

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2 February 2020

publication date

24 May 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21607760%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

2 February 2020

published in

1 reference

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2 February 2020

volume

35

1 reference

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2 February 2020

issue

1

1 reference

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2 February 2020

page(s)

125-131

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https://scigraph.springernature.com/pub.10.1007/s10545-011-9348-y

2 February 2020

exact match

0 references

cites work

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9348-Y

The post-translational modifications of the nuclear encoded subunits of complex I from bovine heart mitochondria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9348-Y

Bovine complex I is a complex of 45 different subunits.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9348-Y

Nuclear power and mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9348-Y

Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9348-Y

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9348-Y

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9348-Y

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9348-Y

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9348-Y

Mitochondrial complex I: structure, function and pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9348-Y

Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9348-Y

Assembly of mitochondrial complex I and defects in disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9348-Y

Assembly factors of human mitochondrial complex I and their defects in disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9348-Y

Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9348-Y

A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9348-Y

A mitochondrial protein compendium elucidates complex I disease biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9348-Y

Quantification of total mitochondrial DNA and the 4977-bp common deletion in Pearson's syndrome lymphoblasts using a fluorogenic 5'-nuclease (TaqMan) real-time polymerase chain reaction assay and plasmid external calibration standards.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9348-Y

Evaluation of enzymatic assays and compounds affecting ATP production in mitochondrial respiratory chain complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9348-Y

C6ORF66 is an assembly factor of mitochondrial complex I

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9348-Y

Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9348-Y

Prevalence of mitochondrial DNA disease in adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9348-Y

Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9348-Y

Minimum birth prevalence of mitochondrial respiratory chain disorders in children

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9348-Y

Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9348-Y

IAP antagonists target cIAP1 to induce TNFalpha-dependent apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9348-Y

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9348-Y

Antibiotic effects on mitochondrial translation and in patients with mitochondrial translational defects

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21607760

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The unique neuroradiology of complex I deficiency due to NDUFA12L defect

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21607760

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10545-011-9348-Y

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21607760%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference