A functionally dominant mitochondrial DNA mutation (Q33979047)

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Language	Label	Description	Also known as
English	A functionally dominant mitochondrial DNA mutation	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

18337306

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30 July 2017

title

A functionally dominant mitochondrial DNA mutation (English)

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PubMed publication ID

18337306

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30 July 2017

main subject

mitochondrial DNA

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author

Salvatore DiMauro

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14

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Salvatore DiMauro

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Europe PubMed Central

PubMed publication ID

18337306

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30 July 2017

Sabrina Sacconi

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1

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Sabrina Sacconi

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PubMed publication ID

18337306

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30 July 2017

author name string

Leonardo Salviati

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2

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PubMed publication ID

18337306

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30 July 2017

Yutaka Nishigaki

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3

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Europe PubMed Central

PubMed publication ID

18337306

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30 July 2017

Winsome F Walker

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4

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18337306

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30 July 2017

Evelyn Hernandez-Rosa

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5

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18337306

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30 July 2017

Eva Trevisson

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6

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PubMed publication ID

18337306

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30 July 2017

Severine Delplace

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7

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18337306

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30 July 2017

Claude Desnuelle

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8

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PubMed publication ID

18337306

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30 July 2017

Sara Shanske

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9

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18337306

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30 July 2017

Michio Hirano

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10

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18337306

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30 July 2017

Eric A Schon

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11

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Europe PubMed Central

PubMed publication ID

18337306

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30 July 2017

Eduardo Bonilla

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12

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Europe PubMed Central

PubMed publication ID

18337306

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30 July 2017

Darryl C De Vivo

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13

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PubMed publication ID

18337306

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30 July 2017

Mercy M Davidson

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15

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PubMed publication ID

18337306

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30 July 2017

publication date

12 March 2008

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PubMed publication ID

18337306

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30 July 2017

published in

Human Molecular Genetics

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PubMed publication ID

18337306

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30 July 2017

volume

17

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18337306

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30 July 2017

issue

12

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18337306

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30 July 2017

page(s)

1814-1820

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18337306

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30 July 2017

cites work

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

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PubMed Central

reference URL

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5 July 2018

Mitochondrial encephalomyopathies: an update

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5 July 2018

Mutation screening in patients with isolated cytochrome c oxidase deficiency

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PubMed Central

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5 July 2018

Mitochondrial threshold effects.

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PubMed Central

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5 July 2018

Mitochondrial DNA depletion and dGK gene mutations

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5 July 2018

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

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5 July 2018

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18337306

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12 December 2020

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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.

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PubMed Central

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5 July 2018

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

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PubMed Central

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5 July 2018

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

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PubMed Central

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

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5 July 2018

Compilation of tRNA sequences and sequences of tRNA genes

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PubMed Central

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5 July 2018

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).

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5 July 2018

Dominance and homozygosity

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5 July 2018

In vivo labeling and analysis of human mitochondrial translation products

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PubMed Central

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5 July 2018

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

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PubMed Central

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5 July 2018

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

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PubMed Central

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

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5 July 2018

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

1 reference

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PubMed Central

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

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5 July 2018

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

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PubMed Central

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5 July 2018

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

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PubMed Central

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

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5 July 2018

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

1 reference

stated in

PubMed Central

reference URL

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

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5 July 2018

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

1 reference

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PubMed Central

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

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5 July 2018

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

1 reference

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PubMed Central

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

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5 July 2018

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

1 reference

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PubMed Central

reference URL

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

retrieved

29 October 2018

A mitochondrial tRNA anticodon swap associated with a muscle disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18337306

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytochemistry and immunocytochemistry of mitochondria in tissue sections

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18337306

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A tRNA suppressor mutation in human mitochondria

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18337306

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial codes and evolution

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18337306

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1093/HMG/DDN073

1 reference

stated in

Europe PubMed Central

PubMed publication ID

18337306

retrieved

30 July 2017

PMC publication ID

2900892

1 reference

stated in

Europe PubMed Central

PubMed publication ID

18337306

retrieved

30 July 2017

PubMed publication ID

18337306

1 reference

stated in

Europe PubMed Central

PubMed publication ID

18337306

retrieved

30 July 2017

ResearchGate publication ID

5515629

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