A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one? (Q44842993)

6 December 2017

title

A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one? (English)

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6 December 2017

Tanja Taivassalo

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6 December 2017

Emma L Blakely

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6 December 2017

Robert William Taylor

object named as

Robert W Taylor

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6 December 2017

Helen Swalwell

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Douglass Matthew Turnbull

6 December 2017

object named as

Douglass M Turnbull

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6 December 2017

Ronald G Haller

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6 December 2017

Matthias Elstner

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6 December 2017

Mercy M Davidson

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6 December 2017

Ruth Sutton

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6 December 2017

Kasia Tonska

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6 December 2017

Langping He

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6 December 2017

Dennis K Burns

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6 December 2017

publication date

9 April 2008

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European Journal of Human Genetics

6 December 2017

published in

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6 December 2017

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6 December 2017

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6 December 2017

page(s)

1265-1274

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Mitochondrial DNA mutations in human disease.

6 December 2017

cites work

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The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation

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

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

21 January 2018

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Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNA(Ser(UCN)) mutation

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

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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.

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New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation.

21 January 2018

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Rapidly progressive neurodegeneration in a case with the 7472insC mutation and the A7472C polymorphism in the mtDNA tRNA ser(UCN) gene

21 January 2018

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The spectrum of exercise tolerance in mitochondrial myopathies: a study of 40 patients

21 January 2018

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Methods of microphotometric assay of succinate dehydrogenase and cytochrome c oxidase activities for use on human skeletal muscle

21 January 2018

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Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

21 January 2018

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The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations

21 January 2018

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

21 January 2018

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Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants.

21 January 2018

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Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNASer(UCN) gene

21 January 2018

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Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene.

21 January 2018

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Molecular Phenotype of the np 7472 Deafness-Associated Mitochondrial Mutation in Osteosarcoma Cell Cybrids

21 January 2018

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7 January 2021

Biochemical assays of respiratory chain complex activity

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.65

7 January 2021

In vivo labeling and analysis of human mitochondrial translation products

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.65

7 January 2021

A tRNA suppressor mutation in human mitochondria

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.65

7 January 2021

Identifiers

DOI

10.1038/EJHG.2008.65

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Dimensions Publication ID

6 December 2017

1032117469

0 references

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