(Q37426666)

English

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

scientific article published on 17 December 2013

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24344687%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24344687%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

based on heuristic

inferred from title

lactic acidosis

1 reference

based on heuristic

inferred from title

mitochondrial myopathy

1 reference

based on heuristic

inferred from title

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24344687%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Sandra T Cooper

9

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24344687%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

John Christodoulou

10

1 reference

Europe PubMed Central

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3 March 2020

author name string

Lisa G Riley

1

1 reference

Europe PubMed Central

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3 March 2020

Minal J Menezes

2

1 reference

Europe PubMed Central

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3 March 2020

Joëlle Rudinger-Thirion

3

1 reference

Europe PubMed Central

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3 March 2020

Rachael Duff

4

1 reference

Europe PubMed Central

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3 March 2020

Pascale de Lonlay

5

1 reference

Europe PubMed Central

PMC publication ID

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3 March 2020

Michel C Tchan

7

1 reference

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3 March 2020

Mark Davis

8

1 reference

Europe PubMed Central

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3 March 2020

publication date

17 December 2013

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Europe PubMed Central

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3 March 2020

Orphanet Journal of Rare Diseases

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24344687%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

8

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24344687%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

193

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24344687%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878580

23 August 2017

Mitochondrial transcription factor A regulates mitochondrial transcription initiation, DNA packaging, and genome copy number

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878580

23 August 2017

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878580

23 August 2017

Human diseases with impaired mitochondrial protein synthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878580

23 August 2017

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

1 reference

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23 August 2017

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

1 reference

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23 August 2017

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

1 reference

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23 August 2017

Metabolic control of mitochondrial biogenesis through the PGC-1 family regulatory network

1 reference

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23 August 2017

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=3878580

23 August 2017

Genetic bases of mitochondrial respiratory chain disorders

1 reference

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23 August 2017

The role of aminoacyl-tRNA synthetases in genetic diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878580

23 August 2017

Crystal structure of human mitochondrial tyrosyl-tRNA synthetase reveals common and idiosyncratic features

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878580

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878580

23 August 2017

Biochemical assays of respiratory chain complex activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878580

23 August 2017

Mitochondrial-nuclear communications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878580

23 August 2017

Initiation and beyond: multiple functions of the human mitochondrial transcription machinery

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878580

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878580

23 August 2017

Mitochondrial DNA haplogroups in Spanish patients with hypertrophic cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878580

23 August 2017

Simultaneous detection and quantification of mitochondrial DNA deletion(s), depletion, and over-replication in patients with mitochondrial disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878580

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878580

23 August 2017

Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878580

23 August 2017

Origins and consequences of mitochondrial variation in vertebrate muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878580

23 August 2017

Practical problems in detecting abnormal mitochondrial function and genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878580

23 August 2017

Oxidative phosphorylation differences between mitochondrial DNA haplogroups modify the risk of Leber's hereditary optic neuropathy

1 reference

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6 September 2017

A human pathology-related mutation prevents import of an aminoacyl-tRNA synthetase into mitochondria

1 reference

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14 September 2017

Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups.

1 reference

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14 September 2017

Regulation of mitochondrial biogenesis during myogenesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878580

14 September 2017

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

1 reference

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26 June 2018

HAPLOFIND: a new method for high-throughput mtDNA haplogroup assignment

1 reference

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2 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878580

2 September 2018

Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis.

1 reference

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2 September 2018

Minimum birth prevalence of mitochondrial respiratory chain disorders in children

1 reference

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2 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878580

2 October 2018

Mitochondrial transcription is regulated via an ATP "sensing" mechanism that couples RNA abundance to respiration

1 reference

https://pubmed.ncbi.nlm.nih.gov/24344687

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial haplogroup T is negatively associated with the status of elite endurance athlete

1 reference

https://pubmed.ncbi.nlm.nih.gov/24344687

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tissue-specific differences in mitochondrial activity and biogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/24344687

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1750-1172-8-193

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24344687%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

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Europe PubMed Central

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3 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

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3 March 2020

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