(Q24534480)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11013136%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

title

Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11013136%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11013136%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

Valérie Cormier-Daire

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11013136%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

Jean-Paul Bonnefont

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11013136%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

Agnès Rötig

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11013136%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

author name string

I Valnot

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11013136%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

S Osmond

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11013136%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

N Gigarel

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11013136%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

B Mehaye

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11013136%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

P Rustin

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11013136%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

A Munnich

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11013136%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

language of work or name

English

0 references

publication date

28 September 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11013136%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

31 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11013136%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

volume

67

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11013136%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11013136%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

page(s)

1104-1109

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11013136%20AND%20SRC:MED&resulttype=core&format=json

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency

31 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288552

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288552

Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288552

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288552

A comprehensive genetic map of the human genome based on 5,264 microsatellites

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288552

Immunological identification of yeast SCO1 protein as a component of the inner mitochondrial membrane

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288552

A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288552

Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288552

Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288552

Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288552

Human members of the SCO1 gene family: complementation analysis in yeast and intracellular localization

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288552

A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288552

Mitochondrial respiratory chain disorders I: mitochondrial DNA defects

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288552

Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288552

Mitochondrial defects in cardiomyopathy and neuromuscular disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288552

Does the patient have a mitochondrial encephalomyopathy?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288552

A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288552

An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288552

A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288552

Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288552

Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288552

Mutations in SURF1 are not specifically associated with Leigh syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288552

Biochemical parameters for the diagnosis of mitochondrial respiratory chain deficiency in humans, and their lack of age-related changes

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288552

Human cytochrome c oxidase: structure, function, and deficiency.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288552

Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288552

SCO1 and SCO2 act as high copy suppressors of a mitochondrial copper recruitment defect in Saccharomyces cerevisiae

29 November 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9297%2807%2962940-1

A pathogenic 15-base pair deletion in mitochondrial DNA-encoded cytochrome c oxidase subunit III results in the absence of functional cytochrome c oxidase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9297%2807%2962940-1

Mitochondrial copper metabolism in yeast: mutational analysis of Sco1p involved in the biogenesis of cytochrome c oxidase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9297%2807%2962940-1

Biochemical and molecular investigations in respiratory chain deficiencies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9297%2807%2962940-1

Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochromec oxidase deficiency

7 January 2021

2 references

https://api.crossref.org/works/10.1016%2FS0002-9297%2807%2962940-1

7 January 2021

https://api.crossref.org/works/10.1016%2FS0002-9297%2807%2962940-1

inferred from DOI database lookup

7 January 2021

based on heuristic

Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9297%2807%2962940-1

Psychological response and survival in breast cancer

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9297%2807%2962940-1

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1086/321202

1 reference

PubMed ID

11013136

10.1016/S0002-9297(07)62940-1

5 July 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11013136%20AND%20SRC:MED&resulttype=core&format=json

release_7qwqxuqvlresvkdwjaw4jf6mki

31 October 2019

Fatcat ID

0 references

release_tfjuio7x2fggvmzgwkad73vcee

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11013136%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

1 reference