(Q34112959)

31 July 2017

title

Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy (English)

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31 July 2017

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5

Aarno Palotie

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31 July 2017

Sofia Ahola

1

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31 July 2017

Pirjo Isohanni

2

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31 July 2017

Liliya Euro

3

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31 July 2017

Virginia Brilhante

4

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31 July 2017

Helena Pihko

6

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31 July 2017

Tuula Lönnqvist

7

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31 July 2017

Tanita Lehtonen

8

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31 July 2017

Jukka Laine

9

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31 July 2017

Henna Tyynismaa

10

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31 July 2017

Anu Suomalainen

11

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31 July 2017

language of work or name

English

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publication date

18 July 2014

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31 July 2017

number of pages

9

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based on heuristic

inferred from page(s)

published in

Neurology

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31 July 2017

volume

83

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31 July 2017

issue

8

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31 July 2017

page(s)

743-751

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describes a project that uses

31 July 2017

ImageQuant

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4150129/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

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Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy

5 July 2018

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Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

5 July 2018

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

5 July 2018

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Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

5 July 2018

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Comparison of solution-based exome capture methods for next generation sequencing

5 July 2018

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5 July 2018

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Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

5 July 2018

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

5 July 2018

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

5 July 2018

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

5 July 2018

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Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect

5 July 2018

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

5 July 2018

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Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies

5 July 2018

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Acute infantile liver failure due to mutations in the TRMU gene.

5 July 2018

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A mitochondrial protein compendium elucidates complex I disease biology

5 July 2018

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Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation

5 July 2018

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

5 July 2018

1 reference

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

5 July 2018

1 reference

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Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu

5 July 2018

1 reference

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Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs

5 July 2018

1 reference

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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

5 July 2018

1 reference

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Classification of stillbirth by relevant condition at death (ReCoDe): population based cohort study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150129

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150129

Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150129

Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150129

The ternary complex of EF-Tu and its role in protein biosynthesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150129

In vivo labeling and analysis of human mitochondrial translation products

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150129

The elongation phase of protein synthesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150129

Structure and importance of the dimerization domain in elongation factor Ts from Thermus thermophilus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150129

Why translation counts for mitochondria - retrograde signalling links mitochondrial protein synthesis to mitochondrial biogenesis and cell proliferation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150129

Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150129

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150129

Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine ((UCN)) mutation

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150129

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150129

Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150129

The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150129

Crystal structure of the bovine mitochondrial elongation factor Tu.Ts complex

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150129

Mechanistic studies of the translational elongation cycle in mammalian mitochondria.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150129

Analysis of nucleotide sequence variations by solid-phase minisequencing

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25037205

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/WNL.0000000000000716

1 reference

31 July 2017

1 reference

31 July 2017

1 reference