(Q42144464)

English

Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome

scientific article published on 23 October 2014

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome (English)

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

Claes M. Gustafsson

object named as

Claes M Gustafsson

6

0 references

object named as

Anders Oldfors

8

0 references

author name string

Kalliopi Sofou

1

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

Gittan Kollberg

2

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

Maria Holmström

3

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

Marcela Dávila

4

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

Niklas Darin

5

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

Elisabeth Holme

7

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

Már Tulinius

9

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

Jorge Asin-Cayuela

10

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

publication date

23 October 2014

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

Molecular genetics & genomic medicine

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

3

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

1

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

59-68

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299715

29 May 2018

The clinical maze of mitochondrial neurology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299715

29 May 2018

Exclusive use of trans-editing domains prevents proline mistranslation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299715

29 May 2018

Mitochondrial aminoacyl-tRNA synthetases in human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299715

29 May 2018

An integrated map of genetic variation from 1,092 human genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299715

29 May 2018

Structural diversity and protein engineering of the aminoacyl-tRNA synthetases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299715

29 May 2018

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299715

29 May 2018

Phenotypic and genotypic variability in Alpers syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299715

29 May 2018

Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299715

29 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299715

29 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299715

29 May 2018

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299715

29 May 2018

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299715

29 May 2018

The Sequence Alignment/Map format and SAMtools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299715

29 May 2018

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299715

29 May 2018

A mitochondrial protein compendium elucidates complex I disease biology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299715

29 May 2018

POLG1 mutations associated with progressive encephalopathy in childhood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299715

29 May 2018

CD-Search: protein domain annotations on the fly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299715

29 May 2018

Trans-editing of mischarged tRNAs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299715

29 May 2018

Treble clef finger--a functionally diverse zinc-binding structural motif

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299715

29 May 2018

The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299715

29 May 2018

Infantile Diffuse Cerebral Degeneration With Hepatic Cirrhosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299715

29 May 2018

Measurement of cytochromes in human skeletal muscle mitochondria, isolated from fresh and frozen stored muscle specimens

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299715

29 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299715

17 August 2018

Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations

1 reference

https://pubmed.ncbi.nlm.nih.gov/25629079

12 December 2020

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Identifiers

10.1002/MGG3.115

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 October 2017

ResearchGate publication ID

0 references

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