The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes. (Q30441690)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24639874%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

review article

1 reference

title

The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes (English)

1 reference

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10 March 2020

3

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10 March 2020

Daria Diodato

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24639874%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Daniele Ghezzi

2

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10 March 2020

author name string

Daria Diodato

1

1 reference

21 August 2017

Daniele Ghezzi

2

1 reference

21 August 2017

4 February 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24639874%20AND%20SRC:MED&resulttype=core&format=json

International Journal of Cell Biology

10 March 2020

published in

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10 March 2020

volume

2014

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10 March 2020

page(s)

787956

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Creative Commons Attribution 3.0 Unported

10 March 2020

copyright license

start time

1 January 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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April 2022 Public Data File from Crossref

cites work

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An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model

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Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

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Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS

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Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

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Aminoacyl-tRNA synthesis

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20 June 2018

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Interaction of mammalian mitochondrial ribosomes with the inner membrane

20 June 2018

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Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA.

21 January 2018

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DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis.

21 January 2018

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Neuropathology of leukoencephalopathy with brainstem and spinal cord involvement and high lactate caused by a homozygous mutation of DARS2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2014%2F787956

Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2014%2F787956

A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2014%2F787956

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2014%2F787956

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2014%2F787956

Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2014%2F787956

Amino acid biogenesis, evolution of the genetic code and aminoacyl-tRNA synthetases

21 January 2018

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Can yeast be used to study mitochondrial diseases? Biolistic tRNA mutants for the analysis of mechanisms and suppressors

21 January 2018

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Aminoacyl-tRNA synthetases are multivalent suppressors of defects due to human equivalent mutations in yeast mt tRNA genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2014%2F787956

A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia

21 January 2018

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https://api.crossref.org/works/10.1155%2F2014%2F787956

A novel homozygous mutation of DARS2 may cause a severe LBSL variant

21 January 2018

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12 December 2020

Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case without elevated white matter lactate

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12 December 2020

Clinically asymptomatic adult patient with extensive LBSL MRI pattern and DARS2 mutations

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12 December 2020

Redundancy of non-AUG initiators. A clever mechanism to enhance the efficiency of translation in yeast

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12 December 2020

Identifiers

DOI

10.1155/2014/787956

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24639874%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24639874%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

PubMed publication ID

24639874

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24639874%20AND%20SRC:MED&resulttype=core&format=json