(Q28204376)

https://doi.org/10.1203%2F01.PDR.0000048100.91730.6A

20 May 2017

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9

Salvatore DiMauro

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author name string

Sabrina Sacconi

1

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Leonardo Salviati

2

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Carolyn M Sue

3

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Sara Shanske

4

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Mercy M Davidson

5

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Eduardo Bonilla

6

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Ali B Naini

7

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Darryl C De Vivo

8

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language of work or name

English

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publication date

February 2003

1 reference

https://doi.org/10.1203%2F01.PDR.0000048100.91730.6A

20 May 2017

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https://doi.org/10.1203%2F01.PDR.0000048100.91730.6A

20 May 2017

volume

53

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https://doi.org/10.1203%2F01.PDR.0000048100.91730.6A

20 May 2017

issue

2

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https://doi.org/10.1203%2F01.PDR.0000048100.91730.6A

20 May 2017

page(s)

224-230

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https://doi.org/10.1203%2F01.PDR.0000048100.91730.6A

Cytochrome c oxidase: structure and spectroscopy

20 May 2017

cites work

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

Cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

Cytochrome c oxidase deficiency in Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutant

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

Isolation of a cDNA encoding the human homolog of COX17, a yeast gene essential for mitochondrial copper recruitment

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

An investigation of the metabolism of isoleucine to active Amyl alcohol in Saccharomyces cerevisiae

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

Cox11p is required for stable formation of the Cu(B) and magnesium centers of cytochrome c oxidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

Involvement of mitochondrial ferredoxin and Cox15p in hydroxylation of heme O.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

Shy1p occurs in a high molecular weight complex and is required for efficient assembly of cytochrome c oxidase in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

A SURF1 gene mutation presenting as isolated leukodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

Mutations in SURF1 are not specifically associated with Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

A Novel Mutation in SURF1 Causes Skipping of Exon 8 in a Patient with Cytochrome c Oxidase-Deficient Leigh Syndrome and Hypertrichosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

New splicing-site mutations in the SURF1 gene in Leigh syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000048100.91730.6A

10.1203/00006450-200302000-00005

21 January 2018

Identifiers

DOI

1 reference

https://doi.org/10.1203%2F01.PDR.0000048100.91730.6A

10.1203/01.PDR.0000048100.91730.6A

20 May 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

Dimensions Publication ID

1030952463

0 references

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

12538779

1 reference

Consolidated OpenCitations Corpus – April 2017