A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. (Q34088669)

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English	A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.	scientific article

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10 November 2019

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528392%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

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Marina S. Gorbatyuk

4

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10 November 2019

6

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10 November 2019

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10 November 2019

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P de Lonlay

1

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10 November 2019

I Valnot

2

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10 November 2019

A Barrientos

3

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10 November 2019

A Tzagoloff

5

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10 November 2019

E Benayoun

7

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10 November 2019

D Chrétien

8

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10 November 2019

N Kadhom

9

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10 November 2019

A Lombès

10

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10 November 2019

H O de Baulny

11

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10 November 2019

P Niaudet

12

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10 November 2019

P Rustin

14

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10 November 2019

A Munnich

13

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10 November 2019

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1 September 2001

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10 November 2019

Nature Genetics

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10 November 2019

29

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10 November 2019

1

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10 November 2019

57-60

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10 November 2019

Clinical heterogeneity in respiratory chain complex III deficiency in childhood

1 reference

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7 January 2021

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A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.

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A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance

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7 January 2021

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Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA

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A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency

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7 January 2021

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Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene

1 reference

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7 January 2021

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The Nuclear ABC1 Gene is Essential for the Correct Conformation and Functioning of the Cytochrome bc1 Complex and the Neighbouring Complexes II and IV in the Mitochondrial Respiratory Chain

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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

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7 January 2021

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Yeast/E. coli shuttle vectors with multiple unique restriction sites

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Bcs1p, an AAA-family member, is a chaperone for the assembly of the cytochrome bc(1) complex.

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7 January 2021

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

1 reference

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

1 reference

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7 January 2021

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Mutations in SURF1 are not specifically associated with Leigh syndrome

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A SURF1 gene mutation presenting as isolated leukodystrophy

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

1 reference

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Biochemical and molecular investigations in respiratory chain deficiencies

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Physical and genetic organization of petite and grande yeast mitochondrial DNA. IV. In vivo transcription products of mitochondrial DNA and localization of 23 S ribosomal RNA in petite mutants of saccharomyces cerevisiae.

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

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Detection of single-nucleotide polymorphisms with the WAVE DNA fragment analysis system

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Applications of high efficiency lithium acetate transformation of intact yeast cells using single-stranded nucleic acids as carrier

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Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency

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