(Q47976366)

7 February 2018

title

Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine ((UCN)) mutation. (English)

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7 February 2018

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Alexandra Götz

1

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7 February 2018

Pirjo Isohanni

2

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7 February 2018

Brita Liljeström

3

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7 February 2018

Jaana Rummukainen

4

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7 February 2018

Kari Nikolajev

5

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7 February 2018

Eila Herrgård

6

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7 February 2018

Sanna Marjavaara

7

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7 February 2018

Anu Suomalainen

8

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7 February 2018

language of work or name

English

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publication date

27 March 2012

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7 February 2018

number of pages

5

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based on heuristic

inferred from page(s)

published in

Pediatric Research

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7 February 2018

volume

72

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7 February 2018

issue

1

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7 February 2018

page(s)

90-94

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7 February 2018

https://scigraph.springernature.com/pub.10.1038/pr.2012.43

exact match

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cites work

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Human mitochondrial tRNAs in health and disease.

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Clinical, biochemical, and molecular analysis of a maternally inherited case of Leigh syndrome (MILS) associated with the mtDNA T8993G point mutation

31 March 2020

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https://api.crossref.org/works/10.1038%2FPR.2012.43

De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring

31 March 2020

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https://api.crossref.org/works/10.1038%2FPR.2012.43

Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene

31 March 2020

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https://api.crossref.org/works/10.1038%2FPR.2012.43

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

31 March 2020

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https://api.crossref.org/works/10.1038%2FPR.2012.43

A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome

31 March 2020

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

31 March 2020

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

31 March 2020

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A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations

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Purifying selection of mtDNA and its implications for understanding evolution and mitochondrial disease

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Strong purifying selection in transmission of mammalian mitochondrial DNA

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The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes

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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

31 March 2020

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Aminoacyl-tRNA surveillance by EF-Tu in mammalian mitochondria.

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T-armless tRNAs and elongated elongation factor Tu.

31 March 2020

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Diagnosis of fatal infantile defects of the mitochondrial respiratory chain: age dependence and postmortem analysis of enzyme activities

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Quantitative analysis of human DNA sequences by PCR and solid-phase minisequencing

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Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome

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31 March 2020

Identifiers

DOI

10.1038/PR.2012.43

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7 February 2018

Dimensions Publication ID

1034436182

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Fatcat ID

release_3ejkfolm2jay7n3v5szcp3zpuy

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PubMed ID

22453297

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7 February 2018