Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency (Q36999666)

17 August 2017

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency (English)

1 reference

17 August 2017

1

1 reference

17 August 2017

9

Elke Holinski-Feder

1 reference

17 August 2017

Rita Horvath

18

0 references

Hanns Lochmüller

Hanns Lochmüller

12

0 references

Haluk Topaloglu

8

Haluk Topaloglu

1 reference

17 August 2017

Robert McFarland

13

0 references

Angela Pyle

3

Angela Pyle

1 reference

17 August 2017

14

Patrick F Chinnery

1 reference

17 August 2017

10

Angela Abicht

1 reference

17 August 2017

Robert William Taylor

17

Robert W Taylor

1 reference

Zofia M Chrzanowska-Lightowlers

17 August 2017

15

Zofia M A Chrzanowska-Lightowlers

1 reference

17 August 2017

5

Helen A L Tuppen

1 reference

17 August 2017

16

Robert N Lightowlers

1 reference

17 August 2017

4

Vivienne C M Neeve

1 reference

17 August 2017

6

Ulrike Schara

1 reference

17 August 2017

7

Beril Talim

1 reference

17 August 2017

11

Birgit Czermin

1 reference

17 August 2017

Paul M Smith

2

1 reference

17 August 2017

language of work or name

English

0 references

publication date

17 December 2010

1 reference

17 August 2017

1 reference

17 August 2017

134

1 reference

17 August 2017

Pt 1

1 reference

17 August 2017

183-195

1 reference

describes a project that uses

17 August 2017

ImageQuant

ImageQuant

2 references

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3707321/fullTextXML

inferred from PubMed Central ID database lookup

CZ Software Mentions: A large dataset of software mentions in the biomedical literature

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

Mitochondrial DNA mutations and human disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

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

29 September 2017

1 reference

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Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

Clinical and molecular features of mitochondrial DNA depletion syndromes.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

The human mitochondrial ribosome recycling factor is essential for cell viability

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

A mitochondrial protein compendium elucidates complex I disease biology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

mtRF1a is a human mitochondrial translation release factor decoding the major termination codons UAA and UAG

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

Biochemical assays of respiratory chain complex activity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

Nuclear genes and mitochondrial translation: a new class of genetic disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

The diagnosis of mitochondrial muscle disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

Mitochondrial DNA mutations in human colonic crypt stem cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

Mitochondrial respiratory-chain diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

In vivo labeling and analysis of human mitochondrial translation products

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

Resistance training in patients with single, large-scale deletions of mitochondrial DNA.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

Snapshots of tRNA sulphuration via an adenylated intermediate.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

Nuclear genetic control of mitochondrial translation in skeletal muscle revealed in patients with mitochondrial myopathy

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

A novel mutation in the mitochondrial 16S rRNA gene in a patient with MELAS syndrome, diabetes mellitus, hyperthyroidism and cardiomyopathy

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

A5814G mutation in mitochondrial DNA can cause mitochondrial myopathy and cardiomyopathy

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3707321

Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21169334

12 December 2020

inferred from PubMed ID database lookup

Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21169334

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1093/BRAIN/AWQ320

1 reference

release_e6qjwafayrasln7pb2dmfshziu

17 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/e6qjwafayrasln7pb2dmfshziu

24 November 2022

mapped directly with Wikidata item

1 reference

17 August 2017

PubMed publication ID

21169334

1 reference