(Q39132635)

9 September 2017

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

1 reference

9 September 2017

Aurora Gomez-Duran

4

0 references

Rita Horvath

object named as

Rita Horvath

series ordinal

8

0 references

Angela Pyle

series ordinal

3

object named as

Angela Pyle

1 reference

9 September 2017

7

Patrick F Chinnery

1 reference

9 September 2017

1

Veronika Boczonadi

1 reference

9 September 2017

5

Ulrike Schara

1 reference

9 September 2017

6

Mar Tulinius

1 reference

9 September 2017

Paul M Smith

2

1 reference

9 September 2017

28 June 2013

1 reference

9 September 2017

Human Molecular Genetics

1 reference

9 September 2017

22

1 reference

9 September 2017

22

1 reference

9 September 2017

4602-4615

1 reference

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

cites work

Disorders of the optic nerve in mitochondrial cytopathies: new ideas on pathogenesis and therapeutic targets

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3889809

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3889809

Mechanisms of mitochondrial diseases

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3889809

Human diseases with impaired mitochondrial protein synthesis

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3889809

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3889809

Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3889809

Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3889809

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3889809

Mitochondrial DNA mutations and human disease

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3889809

Acute infantile liver failure due to mutations in the TRMU gene.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3889809

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3889809

Mechanistic characterization of the sulfur-relay system for eukaryotic 2-thiouridine biogenesis at tRNA wobble positions.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3889809

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3889809

Mitochondria-specific RNA-modifying enzymes responsible for the biosynthesis of the wobble base in mitochondrial tRNAs. Implications for the molecular pathogenesis of human mitochondrial diseases

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3889809

In vivo labeling and analysis of human mitochondrial translation products

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3889809

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3889809

Reversible infantile respiratory chain deficiency: a clinical and molecular study.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3889809

Evaluation of the mitochondrial respiratory chain and oxidative phosphorylation system using blue native gel electrophoresis

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3889809

Expression of the E6 and E7 genes of human papillomavirus (HPV16) extends the life span of human myoblasts

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3889809

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3889809

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

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3889809

Oxidative stress biomarkers in mitochondrial myopathies, basally and after cysteine donor supplementation

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3889809

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

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3889809

Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations

21 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDT309

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDT309

Plasma thiol status is altered in children with mitochondrial diseases

21 January 2018

1 reference

PubMed

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

inferred from PubMed ID database lookup

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