(Q43682257)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11464242%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Functional characterization of novel mutations in the human cytochrome b gene (English)

1 reference

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9 November 2019

2

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9 November 2019

author name string

F Legros

1

1 reference

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9 November 2019

P Frachon

3

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9 November 2019

H Ogier De Baulny

4

1 reference

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9 November 2019

P Laforêt

5

1 reference

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9 November 2019

C Jardel

6

1 reference

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9 November 2019

C Godinot

7

1 reference

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9 November 2019

A Lombès

8

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9 November 2019

publication date

1 July 2001

1 reference

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European Journal of Human Genetics

9 November 2019

published in

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9 November 2019

volume

9

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9 November 2019

issue

7

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9 November 2019

page(s)

510-518

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Biogenesis of mitochondria

9 November 2019

cites work

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7 January 2021

Rapid evolution of animal mitochondrial DNA

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7 January 2021

Mitochondrial DNA sequence variation in human evolution and disease.

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7 January 2021

MITOMAP: an update on the status of the human mitochondrial genome database

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7 January 2021

Clinical heterogeneity in respiratory chain complex III deficiency in childhood

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7 January 2021

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

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7 January 2021

The bc1 complexes of Rhodobacter sphaeroides and Rhodobacter capsulatus

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7 January 2021

Random mutant generation and its utility in uncovering structural and functional features of cytochrome b in Saccharomyces cerevisiae

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7 January 2021

Structure and function of cytochrome bc complexes.

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7 January 2021

Antimycin resistance and ubiquinol cytochrome c reductase instability associated with a human cytochrome b mutation.

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7 January 2021

Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy

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7 January 2021

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

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7 January 2021

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

A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Cytochrome b mutations in Leber hereditary optic neuropathy

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7 January 2021

Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation

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7 January 2021

Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations

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7 January 2021

Polymorphic variants in the human mitochondrial cytochrome b gene

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7 January 2021

Mitochondrial disorders: clinical and genetic features

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7 January 2021

[31] Detection and localization of single base changes by denaturing gradient gel electrophoresis

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7 January 2021

DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: correspondence with melting theory

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7 January 2021

Sequence and organization of the human mitochondrial genome

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7 January 2021

Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?

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7 January 2021

Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain

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7 January 2021

Isolation of the eleven protein subunits of the bc1 complex from beef heart

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7 January 2021

Immunohistochemical analysis of muscle cytochrome c oxidase deficiency in children

1 reference

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7 January 2021

Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular genetics

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7 January 2021

Complete structure of the 11-subunit bovine mitochondrial cytochrome bc1 complex

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7 January 2021

A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria

1 reference

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7 January 2021

Investigation of the Iron-Sulfur Clusters in Some Mitochondria1 Mutants of Saccharomyces cerevisiae. A Possible Correlation between Rieske's Iron-Sulfur Cluster and Cytochrome b

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7 January 2021

Decreased amounts of core proteins I and II and the iron-sulfur protein in mitochondria from yeast lacking cytochrome b but containing cytochrome c1

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7 January 2021

The C-terminal domain of yeast cytochrome b is essential for a correct assembly of the mitochondrial cytochrome bc1 complex

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7 January 2021

Point mutation in cytochrome b of yeast ubihydroquinone:cytochrome-c oxidoreductase causing myxothiazol resistance and facilitated dissociation of the iron-sulfur subunit.

1 reference

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7 January 2021

Role of the evolutionarily conserved cytochrome b tryptophan 142 in the ubiquinol oxidation catalyzed by the bc1 complex in the yeast Saccharomyces cerevisiae.

1 reference

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7 January 2021

Analysis of exon and intron mutants in the cytochrome b mitochondrial gene of Saccharomyces cerevisiae

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7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200678

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11464242%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

9 November 2019

1050733873

0 references

1 reference