(Q24324444)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

title

Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

Asparaginyl-tRNA synthetase 2, mitochondrial

3 March 2020

main subject

1 reference

GOA release 2020-03-11

nonsyndromic deafness

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

William G. Newman

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Vincent Procaccio

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

31

Thomas B Friedman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

38

Saima Riazuddin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

34

Sheikh Riazuddin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

19

Rashmi Hegde

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

28

Shaheen N Khan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

4

Mohsin Shahzad

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

2

Elodie M Richard

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

6

Tanveer A Qaiser

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

10

Sabiha Nazli

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

18

Arnold Starr

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

author name string

Xinjian Wang

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Vincent H Huang

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Prasanth Potluri

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Sarah E Mahl

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Antonio Davila

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Saege Hancock

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Margret Yu

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Jay Gargus

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Richard Chang

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Nada Al-Sheqaih

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Jose Abdenur

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Thomas Dorn

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Eddie Park

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Jie Wu

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Hagen Schwenzer

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Adrian Flierl

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Catherine Florentz

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Marie Sissler

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Ronghua Li

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Min-Xin Guan

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Doris K Wu

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Douglas C Wallace

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Zubair M Ahmed

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Taosheng Huang

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Anke Busch

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

language of work or name

English

0 references

publication date

25 March 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

volume

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

page(s)

e1005097

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons CC0 License

3 March 2020

copyright license

start time

25 March 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted, dedicated to the public domain by copyright holder

0 references

cites work

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Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

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Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

19 March 2017

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19 March 2017

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Primer3 on the WWW for general users and for biologist programmers

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One of two genes encoding glycyl-tRNA synthetase in Saccharomyces cerevisiae provides mitochondrial and cytoplasmic functions

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Mitochondrial asparaginyl-tRNA synthetase is encoded by the yeast nuclear gene YCR24c

19 March 2017

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The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1

19 March 2017

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Nonsense-mediated mRNA decay: terminating erroneous gene expression

19 March 2017

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The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

19 March 2017

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An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans

19 March 2017

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19 March 2017

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7 April 2017

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A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential.

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Integrated transcriptome analysis across mitochondrial disease etiologies and tissues improves understanding of common cellular adaptations to respiratory chain dysfunction

27 September 2017

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Mixing and matching mitochondrial aminoacyl synthetases and their tRNAs: a new way to treat respiratory chain disorders?

27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89

27 September 2017

1 reference

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Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome

27 September 2017

1 reference

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Mitochondrial aminoacyl-tRNA synthetases in human disease

27 September 2017

1 reference

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Aminoacyl-tRNA synthetases in medicine and disease

27 September 2017

1 reference

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Essential nontranslational functions of tRNA synthetases

27 September 2017

1 reference

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Molecular genetic testing for mitochondrial disease: from one generation to the next

27 September 2017

1 reference

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Predicting the functional effect of amino acid substitutions and indels

27 September 2017

1 reference

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A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4373692

Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4373692

Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4373692

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4373692

A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4373692

Leigh and Leigh-like syndrome in children and adults

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4373692

The many applications of acid urea polyacrylamide gel electrophoresis to studies of tRNAs and aminoacyl-tRNA synthetases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4373692

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4373692

Effect of protein structure on mitochondrial import.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4373692

The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4373692

Complex organisation of the 5'-end of the human glycine tRNA synthetase gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4373692

A second class of synthetase structure revealed by X-ray analysis of Escherichia coli seryl-tRNA synthetase at 2.5 A.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4373692

Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4373692

Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4373692

Human mitochondrial leucyl tRNA synthetase can suppress non cognate pathogenic mt-tRNA mutations

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4373692

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4373692

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4373692

wANNOVAR: annotating genetic variants for personal genomes via the web.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4373692

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4373692

Development of the mouse inner ear and origin of its sensory organs.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4373692

Released selective pressure on a structural domain gives new insights on the functional relaxation of mitochondrial aspartyl-tRNA synthetase.

30 May 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1005097

Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1005097

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1005097

Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1005097

Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1005097

Structural basis of the water-assisted asparagine recognition by asparaginyl-tRNA synthetase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1005097

Cytoplasmic and mitochondrial protein translation in axonal and dendritic terminal arborization

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1005097

DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1005097

Protein unfolding by the mitochondrial membrane potential

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1005097

Mitochondrial aminoacyl-tRNA synthetase single-nucleotide polymorphisms that lead to defects in refolding but not aminoacylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1005097

Lentiviral vector-mediated PAX6 overexpression promotes growth and inhibits apoptosis of human retinoblastoma cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1005097

Susceptibility to simvastatin-induced toxicity is partly determined by mitochondrial respiration and phosphorylation state of Akt.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1005097

Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4373692

Age and symptoms at natural menopause: a cross-sectional survey of rural women in Sindh Pakistan

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4373692

10.1371/JOURNAL.PGEN.1005097

29 November 2018

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

PubMed publication ID

25807530

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json