Cytochrome c oxidase deficiency (Q28189586)

American Journal of Medical Genetics Part A

Europe PubMed Central

title

Cytochrome c oxidase deficiency (English)

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author name string

E A Shoubridge

series ordinal

1

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language of work or name

English

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publication date

2001

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published in

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volume

106

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issue

1

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page(s)

46-52

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cites work

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

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

21 January 2018

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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

21 January 2018

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

21 January 2018

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

21 January 2018

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Characterization of cytochrome-c oxidase mutants in human fibroblasts

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Cloning and characterization of COX14, whose product is required for assembly of yeast cytochrome oxidase

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Mitochondrial assembly in yeast.

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

21 January 2018

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Membrane translocation of mitochondrially coded Cox2p: distinct requirements for export of N and C termini and dependence on the conserved protein Oxa1p

21 January 2018

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Oxa1p mediates the export of the N- and C-termini of pCoxII from the mitochondrial matrix to the intermembrane space

21 January 2018

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

21 January 2018

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

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Structure at 2.8 Å resolution of cytochrome c oxidase from Paracoccus denitrificans

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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

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

21 January 2018

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

21 January 2018

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

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

21 January 2018

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A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene

21 January 2018

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SHY1, the yeast homolog of the mammalian SURF-1 gene, encodes a mitochondrial protein required for respiration

21 January 2018

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

21 January 2018

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Assembly of cytochrome-c oxidase in cultured human cells

21 January 2018

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

21 January 2018

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Somatic mutations of the mitochondrial genome in human colorectal tumours

21 January 2018

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

21 January 2018

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

21 January 2018

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Human cytochrome oxidase deficiency

21 January 2018

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Structural features of cytochrome oxidase

21 January 2018

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Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency

21 January 2018

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

21 January 2018

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

21 January 2018

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A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome

21 January 2018

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The whole structure of the 13-subunit oxidized cytochrome c oxidase at 2.8 A

21 January 2018

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

21 January 2018

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Mutations in SURF1 are not specifically associated with Leigh syndrome

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1002/AJMG.1378

1 reference

Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

11579424

1 reference

Consolidated OpenCitations Corpus – April 2017