Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome (Q24324444)

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3 March 2020

title

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

1 reference

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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

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William G. Newman

16

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Vincent Procaccio

33

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Thomas B Friedman

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38

Saima Riazuddin

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34

Sheikh Riazuddin

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Rashmi Hegde

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Shaheen N Khan

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Mohsin Shahzad

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2

Elodie M Richard

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6

Tanveer A Qaiser

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10

Sabiha Nazli

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18

Arnold Starr

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author name string

Xinjian Wang

3

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Vincent H Huang

5

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Prasanth Potluri

7

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Sarah E Mahl

8

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Antonio Davila

9

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Saege Hancock

11

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Margret Yu

12

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Richard Chang

14

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Nada Al-Sheqaih

15

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Jose Abdenur

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Thomas Dorn

20

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Eddie Park

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Jie Wu

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Hagen Schwenzer

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Marie Sissler

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Ronghua Li

29

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Min-Xin Guan

30

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Doris K Wu

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Douglas C Wallace

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language of work or name

English

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publication date

25 March 2015

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volume

11

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issue

3

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3 March 2020

page(s)

e1005097

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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

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

27 September 2017

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27 September 2017

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

27 September 2017

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

27 September 2017

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

27 September 2017

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

27 September 2017

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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

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

30 May 2018

1 reference

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

30 May 2018

1 reference

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Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

30 May 2018

1 reference

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

30 May 2018

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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

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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