(Q39245103)

10 September 2017

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title

Molecular defects in cytochrome oxidase in mitochondrial diseases (English)

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10 September 2017

S DiMauro

1

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10 September 2017

M Zeviani

2

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10 September 2017

R Rizzuto

3

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10 September 2017

A Lombes

4

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10 September 2017

H Nakase

5

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10 September 2017

E Bonilla

6

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10 September 2017

A Miranda

7

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10 September 2017

E Schon

8

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10 September 2017

1 June 1988

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Journal of Bioenergetics and Biomembranes

10 September 2017

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10 September 2017

20

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10 September 2017

3

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10 September 2017

353-364

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https://scigraph.springernature.com/pub.10.1007/bf00769637

10 September 2017

0 references

cites work

Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscles

1 reference

12 December 2020

Sequence and organization of the human mitochondrial genome

1 reference

12 December 2020

Targeting of nuclear-encoded proteins to the mitochondrial matrix: implications for human genetic defects

1 reference

12 December 2020

Partial cytochrome oxidase (aa3) deficiency in chronic progressive external ophthalmoplegia

1 reference

12 December 2020

Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle

1 reference

12 December 2020

Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis

1 reference

12 December 2020

Isolation and characterization of a cDNA clone for bovine cytochrome c oxidase subunit IV

1 reference

12 December 2020

Congenital deficiency of two polypeptide subunits of the iron-protein fragment of mitochondrial complex I.

1 reference

12 December 2020

Fatal infhntile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency

1 reference

12 December 2020

Cytochrome oxidase deficiency: clinical and biochemical heterogeneity

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12 December 2020

Mitochondrial encephalomyopathy and partial cytochrome c oxidase deficiency

1 reference

12 December 2020

Cytochrome c oxidase deficiency in Leigh syndrome.

1 reference

12 December 2020

On the function of multiple subunits of cytochrome c oxidase from higher eukaryotes

1 reference

12 December 2020

Two childhood myopathies with abnormal mitochondria. I. Megaconial myopathy. II. Pleoconial myopathy

1 reference

12 December 2020

Cytochrome-C-oxidase deficiency in muscles of a floppy infant without mitochondrial myopathy

1 reference

12 December 2020

Peripheral neuropathy in mitochondrial disease

1 reference

12 December 2020

Benign reversible muscle cytochrome c oxidase deficiency: a second case

1 reference

12 December 2020

Structure of cytochrome c oxidase

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12 December 2020

The mitochondrial electron transport and oxidative phosphorylation system

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12 December 2020

Deficiency in ubiquinone cytochrome c reductase in a patient with mitochondrial myopathy and lactic acidosis

1 reference

12 December 2020

Fatal infantile mitochondrial myopathy due to cytochrome c oxidase deficiency

1 reference

12 December 2020

The presequences of two imported mitochondrial proteins contain information for intracellular and intramitochondrial sorting

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12 December 2020

Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency

1 reference

12 December 2020

Amino acid sequence of the heme a subunit of bovine heart cytochrome oxidase and sequence homology with hemoglobin

1 reference

12 December 2020

Two siblings with cytochromec oxidase deficiency

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12 December 2020

Maternally inherited mitochondrial myopathy and myoclonic epilepsy.

1 reference

12 December 2020

Progressive poliodystrophy (Alpers' disease) with a defect in cytochrome aa3 in muscle: a report of two unrelated patients.

1 reference

12 December 2020

Focal deficiency of cytochrome-c-oxidase in skeletal muscle of patients with progressive external ophthalmoplegia. Cytochemical-fine-structural study

1 reference

12 December 2020

1 reference

12 December 2020

A monoclonal antibody against cytochrome c oxidase distinguishes cardiac and skeletal muscle mitochondria

1 reference

12 December 2020

Mitochondrial myopathies

1 reference

12 December 2020

Isolation and properties of cytochrome c oxidase from rat liver and quantification of immunological differences between isozymes from various rat tissues with subunit-specific antisera

1 reference

12 December 2020

Mitochondrial myopathies involving the respiratory chain: a biochemical analysis

1 reference

12 December 2020

RAPID EXAMINATION OF MUSCLE TISSUE. AN IMPROVED TRICHROME METHOD FOR FRESH-FROZEN BIOPSY SECTIONS

1 reference

12 December 2020

Isolation of a cDNA clone encoding subunit IV of human cytochrome c oxidase

1 reference

12 December 2020

Mitochondrial myopathies

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12 December 2020

A partial deficiency of cytochrome c oxidase in chronic progressive external ophthalmoplegia.

1 reference

12 December 2020

Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin.

1 reference

12 December 2020

Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: immunological studies in a new patient

1 reference

12 December 2020

Trichopoliodystrophy. I. Report of a case and biochemical studies

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12 December 2020

HUMAN MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA.

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00769637

1 reference

10 September 2017

1 reference