Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency (Q39132635)

9 September 2017

Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency (English)

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9 September 2017

Aurora Gomez-Duran

4

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Rita Horvath

object named as

Rita Horvath

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8

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Angela Pyle

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3

object named as

Angela Pyle

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9 September 2017

7

Patrick F Chinnery

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9 September 2017

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Veronika Boczonadi

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9 September 2017

5

Ulrike Schara

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9 September 2017

6

Mar Tulinius

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9 September 2017

Paul M Smith

2

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9 September 2017

28 June 2013

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9 September 2017

Human Molecular Genetics

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22

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22

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4602-4615

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PMCID

3889809

describes a project that uses

9 September 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3889809/fullTextXML

inferred from PubMed Central ID database lookup

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Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease

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12 September 2017

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Combination of the loss of cmnm5U34 with the lack of s2U34 modifications of tRNALys, tRNAGlu, and tRNAGln altered mitochondrial biogenesis and respiration

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12 September 2017

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Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations

12 September 2017

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The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation.

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Oxidative phosphorylation: synthesis of mitochondrially encoded proteins and assembly of individual structural subunits into functional holoenzyme complexes

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Plasma thiol status is altered in children with mitochondrial diseases

21 January 2018

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https://pubmed.ncbi.nlm.nih.gov/23814040

12 December 2020

inferred from PubMed ID database lookup

Effect of modified nucleotides on Escherichia coli tRNAGlu structure and on its aminoacylation by glutamyl-tRNA synthetase. Predominant and distinct roles of the mnm5 and s2 modifications of U34

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23814040

12 December 2020

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175th ENMC International Workshop: Mitochondrial protein synthesis in health and disease, 25–27th June 2010, Naarden, The Netherlands

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23814040

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1093/HMG/DDT309

1 reference

9 September 2017

1 reference

9 September 2017

1 reference

PMCID

3889809