(Q28115863)

English

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

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scholarly article

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26189817%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

0 references

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies (English)

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26189817%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

post-transcriptional modification

0 references

TRNA methyltransferase 5

1 reference

GOA release 2020-03-11

mitochondrial tRNA methylation

1 reference

GOA release 2020-03-11

1 reference

based on heuristic

inferred from title

Thomas Meitinger

14

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26189817%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Christopher A. Powell

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26189817%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26189817%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Cristina Dallabona

7

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26189817%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Claudia Donnini

8

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26189817%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Charlotte L Alston

9

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26189817%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

10

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26189817%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Richard J Rodenburg

15

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26189817%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Holger Prokisch

23

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26189817%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Michał Mińczuk

24

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26189817%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Robert William Taylor

22

object named as

Robert W Taylor

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26189817%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Patrick F. Chinnery

12

object named as

Patrick F Chinnery

1 reference

Europe PubMed Central

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19 February 2020

21

object named as

Tobias B Haack

1 reference

Europe PubMed Central

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19 February 2020

13

object named as

Tim M Strom

1 reference

Europe PubMed Central

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19 February 2020

Robert Kopajtich

2

object named as

Robert Kopajtich

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26189817%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Gudrun Schottmann

16

object named as

Gudrun Schottmann

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26189817%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Markus Schuelke

17

object named as

Markus Schuelke

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26189817%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

20

object named as

Ileana Ferrero

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26189817%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

6

object named as

Ralf A Husain

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26189817%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

18

object named as

Nadine Romain

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26189817%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

author name string

Aaron R D'Souza

3

1 reference

Europe PubMed Central

PMC publication ID

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19 February 2020

Laura S Kremer

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26189817%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Angela Pyle

11

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26189817%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Ronald G Haller

19

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26189817%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

language of work or name

0 references

publication date

16 July 2015

1 reference

Europe PubMed Central

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19 February 2020

American Journal of Human Genetics

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26189817%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

97

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26189817%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

2

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26189817%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

319-328

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26189817%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

20 March 2017

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

20 March 2017

Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

20 March 2017

Improvement of reading frame maintenance is a common function for several tRNA modifications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

20 March 2017

Mitochondrial tRNA mutations and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

20 March 2017

Posttranscriptional RNA Modifications: playing metabolic games in a cell's chemical Legoland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

20 March 2017

MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

20 March 2017

A primordial tRNA modification required for the evolution of life?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

20 March 2017

Yeast mitochondrial initiator tRNA is methylated at guanosine 37 by the Trm5-encoded tRNA (guanine-N1-)-methyltransferase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

20 March 2017

Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

20 March 2017

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

20 March 2017

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

20 March 2017

Cdk5rap1-mediated 2-methylthio modification of mitochondrial tRNAs governs protein translation and contributes to myopathy in mice and humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

20 March 2017

Mitochondrial transcript maturation and its disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

29 September 2017

Nuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

29 September 2017

Spectrum of combined respiratory chain defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

29 September 2017

The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

29 September 2017

MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

29 September 2017

Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

29 September 2017

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

29 September 2017

MRM2 and MRM3 are involved in biogenesis of the large subunit of the mitochondrial ribosome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

29 September 2017

Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

29 September 2017

A complete landscape of post-transcriptional modifications in mammalian mitochondrial tRNAs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

29 September 2017

Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

29 September 2017

Mitochondria: mitochondrial RNA metabolism and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

29 September 2017

A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

29 September 2017

Distinct determinants of tRNA recognition by the TrmD and Trm5 methyl transferases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

29 September 2017

Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

29 September 2017

Isolation and characterization of the human tRNA-(N1G37) methyltransferase (TRM5) and comparison to the Escherichia coli TrmD protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

29 September 2017

Mitochondrial DNA deletion in "identical" twin brothers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

29 September 2017

Effect of a mutation in the anticodon of human mitochondrial tRNAPro on its post-transcriptional modification pattern

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

29 September 2017

Exercise intolerance, lactic acidosis, and abnormal cardiopulmonary regulation in exercise associated with adult skeletal muscle cytochrome c oxidase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

29 September 2017

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

2 June 2018

Conservation of structure and mechanism by Trm5 enzymes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

2 June 2018

The T. brucei TRM5 methyltransferase plays an essential role in mitochondrial protein synthesis and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

2 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

2 June 2018

Mechanism of N-methylation by the tRNA m1G37 methyltransferase Trm5.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

2 June 2018

Role of tRNA modification in translational fidelity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

2 June 2018

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

27 November 2018

Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

27 November 2018

Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

27 November 2018

Three modified nucleosides present in the anticodon stem and loop influence the in vivo aa-tRNA selection in a tRNA-dependent manner.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

27 November 2018

Prevention of translational frameshifting by the modified nucleoside 1-methylguanosine.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573257

27 November 2018

A single methyl group prevents the mischarging of a tRNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/26189817

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Construction and testing of engineered zinc-finger proteins for sequence-specific modification of mtDNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/26189817

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2015.06.011

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26189817%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26189817%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

PubMed publication ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26189817%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

ResearchGate publication ID

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