(Q24298980)

Histidyl-tRNA synthetase 1

1 reference

identical protein binding

1 reference

Histidine--tRNA ligase CELE_T11G6.1

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sensorineural hearing loss

1 reference

1 reference

1 reference

1 reference

5

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Mary-Claire King

9

object named as

Mary-Claire King

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Karen M Chisholm

object named as

Karen M Chisholm

2

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John Marius Opitz

6

object named as

John M Opitz

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author name string

Sarah B Pierce

1

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Eric D Lynch

3

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Ming K Lee

4

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Weiqing Li

7

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Rachel E Klevit

Proceedings of the National Academy of Sciences of the United States of America

8

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language of work or name

English

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publication date

19 April 2011

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published in

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volume

108

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issue

16

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page(s)

6543-8

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cites work

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081023

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081023

Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081023

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081023

A novel gene oriented in a head-to-head configuration with the human histidyl-tRNA synthetase (HRS) gene encodes an mRNA that predicts a polypeptide homologous to HRS

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081023

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081023

Functional profiling of the Saccharomyces cerevisiae genome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081023

19 March 2017

Histidyl-tRNA synthetase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081023

The first step of aminoacylation at the atomic level in histidyl-tRNA synthetase

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081023

Crystal structure analysis of the activation of histidine by Thermus thermophilus histidyl-tRNA synthetase

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081023

Mitochondrial and Cytoplasmic Isoleucyl-, Glutamyl-and Arginyl-tRNA Synthetases of Yeast are Encoded by Separate Genes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081023

Crystal structure of histidyl-tRNA synthetase from Escherichia coli complexed with histidyl-adenylate

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081023

The HTS1 gene encodes both the cytoplasmic and mitochondrial histidine tRNA synthetases of S. cerevisiae

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081023

Genome-wide RNAi analysis of Caenorhabditis elegans fat regulatory genes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081023

A systematic RNAi screen identifies a critical role for mitochondria in C. elegans longevity

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081023

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081023

Mitochondrial function in the human oocyte and embryo and their role in developmental competence

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081023

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081023

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault 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=3081023

Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081023

Effects of caloric restriction on age-related hearing loss in rodents and rhesus monkeys

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081023

A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth 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=3081023

C. elegans major fats are stored in vesicles distinct from lysosome-related organelles

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081023

The role of aminoacyl-tRNA synthetases in genetic diseases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081023

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=3081023

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081023

Molecular pathogenetic mechanism of maternally inherited deafness

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081023

The role of mitochondria in the life of the nematode, Caenorhabditis elegans

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081023

New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081023

Oocyte apoptosis: like sand through an hourglass

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081023

The Perrault syndrome: clinical report and review

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081023

The perrault syndrome: Autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081023

Perrault Syndrome with progressive nervous system involvement

30 May 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1103471108

Perrault syndrome with Marfanoid habitus in two siblings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1103471108

A mitochondrial tRNA(His) gene mutation causing pigmentary retinopathy and neurosensorial deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1103471108

Defective mitochondrial protein translocation precludes normal Caenorhabditis elegans development

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1103471108

Survival of human ovarian follicles from fetal to adult life: apoptosis, apoptosis-related proteins, and transcription factor GATA-4.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081023

Perrault syndrome: Evidence for progressive nervous system involvement

29 November 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1103471108

Mitochondria and germ-cell death

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1103471108

Perrault syndrome: Report of four new cases, review and exclusion of candidate genes

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/21464306

12 December 2020

[Two cases of Turner syndrome with deaf-mutism in two sisters.]

1 reference

https://pubmed.ncbi.nlm.nih.gov/21464306

12 December 2020

Mitochondrial deafness

1 reference

https://pubmed.ncbi.nlm.nih.gov/21464306

12 December 2020

Gonadal dysgenesis as an autosomal recessive condition

1 reference

https://pubmed.ncbi.nlm.nih.gov/21464306

12 December 2020

Sporadic Perrault syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21464306

12 December 2020

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/21464306

12 December 2020

Identifiers

DOI

10.1073/PNAS.1103471108

1 reference

ADS bibcode

2011PNAS..108.6543P

0 references

1 reference

1 reference

PubMed publication ID

21464306

1 reference