(Q35203201)

7 August 2017

1 reference

title

Disorders of mitochondrial protein synthesis (English)

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7 August 2017

Howard T Jacobs

1

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7 August 2017

publication date

19 August 2003

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7 August 2017

published in

Human Molecular Genetics

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7 August 2017

volume

12 Spec No 2

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7 August 2017

page(s)

R293-301

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Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome?

7 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

Heteroplasmic segregation associated with trisomy-9 in cultured human cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

Mitochondrial tRNALeu isoforms in lung carcinoma cybrid cells containing the np 3243 mtDNA mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

Search for differences in post-transcriptional modification patterns of mitochondrial DNA-encoded wild-type and mutant human tRNALys and tRNALeu(UUR).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

Taurine as a constituent of mitochondrial tRNAs: new insights into the functions of taurine and human mitochondrial diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNA(Lys) with the MERRF encephalomyopathy pathogenic mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

Wobble modification defect in tRNA disturbs codon-anticodon interaction in a mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np 7445 deafness-associated mitochondrial mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

In vitro 3'-end endonucleolytic processing defect in a human mitochondrial tRNA(Ser(UCN)) precursor with the U7445C substitution, which causes non-syndromic deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation of tRNASer(UCN) but not its structure or rate of turnover

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

A pathogenic point mutation reduces stability of mitochondrial mutant tRNA(Ile)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

tRNA imbalance promotes -1 frameshifting via near-cognate decoding

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

How do alterations in plant mitochondrial genomes disrupt pollen development?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

Tissue variation in the control of oxidative phosphorylation: implication for mitochondrial diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

Proteomic Consequences of a Human Mitochondrial tRNA Mutation beyond the Frame of Mitochondrial Translation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

Regulation of energy metabolism in human cells in aging and diabetes: FoF(1), mtDNA, UCP, and ROS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

MTO1 codes for a mitochondrial protein required for respiration in paromomycin-resistant mutants of Saccharomyces cerevisiae.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

Expression of the gene for mitoribosomal protein S12 is controlled in human cells at the levels of transcription, RNA splicing, and translation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

Interactions among COX1, COX2, and COX3 mRNA-specific translational activator proteins on the inner surface of the mitochondrial inner membrane of Saccharomyces cerevisiae.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

Membrane protein degradation by AAA proteases in mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

A common mitochondrial DNA variant associated with susceptibility to dilated cardiomyopathy in two different populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

Nuclear genetic control of mitochondrial DNA segregation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG285

21 January 2018

Identifiers

DOI

10.1093/HMG/DDG285

1 reference

7 August 2017

1 reference