(Q51656878)

9 April 2018

title

Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome. (English)

1 reference

9 April 2018

author

Jiri Zeman

9

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9 April 2018

Petr Pecina

object named as

Petr Pecina

1

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Zdenek Drahota

object named as

Zdenek Drahota

4

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Alena Pecinová

1 reference

ORCID Public Data File 2021

author name string

Markéta Capková

2

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9 April 2018

Subir K R Chowdhury

3

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9 April 2018

Audrey Dubot

5

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9 April 2018

Alena Vojtísková

6

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9 April 2018

Hana Hansíková

7

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9 April 2018

Hana Houst'ková

8

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9 April 2018

Catherine Godinot

10

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9 April 2018

Josef Houstek

11

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9 April 2018

publication date

1 September 2003

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9 April 2018

number of pages

11

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Biochimica et Biophysica Acta

inferred from page(s)

published in

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9 April 2018

volume

1639

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9 April 2018

issue

1

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9 April 2018

page(s)

53-63

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9 April 2018

Cytochrome oxidase deficiency: clinical and biochemical heterogeneity

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1 reference

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Leigh syndrome: clinical features and biochemical and DNA abnormalities.

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7 January 2021

Human cytochrome oxidase deficiency

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7 January 2021

Cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence for a nuclear DNA-encoded mutation.

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7 January 2021

Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants

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7 January 2021

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

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7 January 2021

Complementation analysis of systemic cytochrome oxidase deficiency presenting as Leigh syndrome

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7 January 2021

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

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7 January 2021

Crosstalk between nuclear and mitochondrial genomes

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7 January 2021

Mitochondrial assembly in yeast.

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Sequence conservation from human to prokaryotes of Surf1, a protein involved in cytochrome c oxidase assembly, deficient in Leigh syndrome

1 reference

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7 January 2021

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

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7 January 2021

Assembly of cytochrome-c oxidase in cultured human cells

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

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7 January 2021

Abnormal calcium homeostasis in fibroblasts from patients with Leigh disease.

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7 January 2021

Immunohistochemical analysis of muscle cytochrome c oxidase deficiency in children

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7 January 2021

Analysis of oxidative phosphorylation complexes in cultured human fibroblasts and amniocytes by blue-native-electrophoresis using mitoplasts isolated with the help of digitonin.

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7 January 2021

Blue-native gels to isolate protein complexes from mitochondria.

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7 January 2021

Tricine-sodium dodecyl sulfate-polyacrylamide gel electrophoresis for the separation of proteins in the range from 1 to 100 kDa

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7 January 2021

Activities of mitochondrial oxidative phosphorylation enzymes in cultured amniocytes

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7 January 2021

Tetramethyl rhodamine methyl ester (TMRM) is suitable for cytofluorometric measurements of mitochondrial membrane potential in cells treated with digitonin

1 reference

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7 January 2021

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

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7 January 2021

A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.

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7 January 2021

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

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

In vivo control of respiration by cytochrome c oxidase in wild-type and mitochondrial DNA mutation-carrying human cells

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7 January 2021

Supercomplexes in the respiratory chains of yeast and mammalian mitochondria

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https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900127-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900127-3

7 January 2021

OXA1, a Saccharomyces cerevisiae nuclear gene whose sequence is conserved from prokaryotes to eukaryotes controls cytochrome oxidase biogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900127-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900127-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900127-3

7 January 2021

Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy

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7 January 2021

Cytochrome c oxidase deficiency

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7 January 2021

Low reserve of cytochrome c oxidase capacity in vivo in the respiratory chain of a variety of human cell types.

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7 January 2021

Mitochondrial energy metabolism is regulated via nuclear-coded subunits of cytochrome c oxidase

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7 January 2021

Modified structure and kinetics of cytochrome-c oxidase in fibroblasts from patients with Leigh syndrome

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https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900127-3

7 January 2021

Evolutionary aspects of cytochrome c oxidase

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7 January 2021

Defective kinetics of cytochrome c oxidase and alteration of mitochondrial membrane potential in fibroblasts and cytoplasmic hybrid cells with the mutation for myoclonus epilepsy with ragged-red fibres ('MERRF') at position 8344 nt.

1 reference

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7 January 2021

Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2

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https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900127-3

7 January 2021

Cytochrome c oxidase-deficient patients have distinct subunit assembly profiles

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900127-3

7 January 2021

Mutations in SURF1 are not specifically associated with Leigh syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900127-3

7 January 2021

Immunological phenotyping of fibroblast cultures from patients with a mitochondrial respiratory chain deficit

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900127-3

7 January 2021

Selective removal of subunit VIb increases the activity of cytochrome c oxidase

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900127-3

7 January 2021

10.1016/S0925-4439(03)00127-3

Identifiers

DOI

1 reference

9 April 2018

1 reference

9 April 2018