A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec (Q35194856)

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11 October 2019

title

A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec (English)

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11 October 2019

author name string

Merante F

1

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11 October 2019

Petrova-Benedict R

2

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11 October 2019

MacKay N

3

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11 October 2019

Mitchell G

4

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11 October 2019

Lambert M

5

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11 October 2019

Morin C

6

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11 October 2019

De Braekeleer M

7

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11 October 2019

Laframboise R

8

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11 October 2019

Gagné R

9

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11 October 2019

Robinson BH

10

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11 October 2019

language of work or name

English

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publication date

1 August 1993

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American Journal of Human Genetics

11 October 2019

published in

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11 October 2019

volume

53

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11 October 2019

issue

2

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11 October 2019

page(s)

481-487

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Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean.

11 October 2019

cites work

1 reference

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

13 July 2018

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Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia

13 July 2018

1 reference

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Characterization of cytochrome-c oxidase mutants in human fibroblasts

13 July 2018

1 reference

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Cytochrome c oxidase deficiency in Leigh syndrome

13 July 2018

1 reference

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Abnormal kinetic behavior of cytochrome oxidase in a case of Leigh disease

13 July 2018

1 reference

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Sequence of a cDNA specifying subunit VIIa of human cytochrome c oxidase

13 July 2018

1 reference

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Sequence of a cDNA specifying subunit VIa of human cytochrome c oxidase

13 July 2018

1 reference

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The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia

13 July 2018

1 reference

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Cytochrome oxidase assembly in yeast requires the product of COX11, a homolog of the P. denitrificans protein encoded by ORF3.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682348

COX10 codes for a protein homologous to the ORF1 product of Paracoccus denitrificans and is required for the synthesis of yeast cytochrome oxidase

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682348

Demonstration of two isoforms of subunit VIIa of cytochrome c oxidase from human skeletal muscle. Implications for mitochondrial myopathies

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682348

Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682348

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high

13 July 2018

1 reference

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Fatal combined defects in mitochondrial multienzyme complexes in two siblings

13 July 2018

1 reference

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Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682348

Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682348

Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682348

Separation of mammalian cytochrome c oxidase into 13 polypeptides by a sodium dodecyl sulfate-gel electrophoretic procedure

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682348

Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues to pathogenesis of Leigh disease

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682348

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

27 September 2018

1 reference

12 December 2020

Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency

1 reference

12 December 2020

Deficiency of cytochromes b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiency

1 reference

12 December 2020

Cytochrome c oxidase deficiency

1 reference

12 December 2020

Identifiers

1 reference

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11 October 2019

PubMed publication ID

8392290

1 reference