(Q33979047)

30 July 2017

title

A functionally dominant mitochondrial DNA mutation (English)

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30 July 2017

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14

Salvatore DiMauro

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30 July 2017

Sabrina Sacconi

1

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30 July 2017

Leonardo Salviati

2

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30 July 2017

Yutaka Nishigaki

3

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30 July 2017

Winsome F Walker

4

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30 July 2017

Evelyn Hernandez-Rosa

5

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30 July 2017

Eva Trevisson

6

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30 July 2017

Severine Delplace

7

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30 July 2017

Claude Desnuelle

8

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30 July 2017

Sara Shanske

9

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30 July 2017

Michio Hirano

10

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30 July 2017

Eric A Schon

11

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30 July 2017

Eduardo Bonilla

12

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30 July 2017

Darryl C De Vivo

13

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30 July 2017

Mercy M Davidson

15

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30 July 2017

publication date

12 March 2008

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30 July 2017

published in

Human Molecular Genetics

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30 July 2017

volume

17

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30 July 2017

issue

12

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30 July 2017

page(s)

1814-1820

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Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2900892

Mitochondrial encephalomyopathies: an update

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2900892

Mutation screening in patients with isolated cytochrome c oxidase deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2900892

Mitochondrial threshold effects.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2900892

Mitochondrial DNA depletion and dGK gene mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2900892

Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations

5 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2900892

5 July 2018

12 December 2020

The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2900892

Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2900892

Effect of a mutation in the anticodon of human mitochondrial tRNAPro on its post-transcriptional modification pattern

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2900892

Compilation of tRNA sequences and sequences of tRNA genes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2900892

A disease-associated G5703A mutation in human mitochondrial DNA causes a conformational change and a marked decrease in steady-state levels of mitochondrial tRNA(Asn).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2900892

Dominance and homozygosity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2900892

In vivo labeling and analysis of human mitochondrial translation products

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2900892

The second to last amino acid in the nascent peptide as a codon context determinant.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2900892

In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2900892

Identification of transfer RNA suppressors in Escherichia coli. III. Ochre suppressors of lysine tRNA.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2900892

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2900892

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2900892

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2900892

The mitochondrial tRNA(Leu)(UUR)) mutation in MELAS: a model for pathogenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2900892

The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2900892

MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2900892

A mitochondrial tRNA anticodon swap associated with a muscle disease

29 October 2018

1 reference

12 December 2020

Cytochemistry and immunocytochemistry of mitochondria in tissue sections

1 reference

12 December 2020

A tRNA suppressor mutation in human mitochondria

1 reference

12 December 2020

Mitochondrial codes and evolution

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDN073

1 reference

30 July 2017

1 reference

30 July 2017

1 reference