Mitochondrial DNA disease-molecular insights and potential routes to a cure (Q27005350)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24675282%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

review article

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title

Mitochondrial DNA disease-molecular insights and potential routes to a cure (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24675282%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

main subject

mitochondrial DNA

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mitochondrial disease

1 reference

24 March 2019

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24675282%20AND%20SRC:MED&resulttype=core&format=json

Douglass Matthew Turnbull

12 March 2020

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24675282%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

author name string

Oliver Russell

series ordinal

1

1 reference

Doug Turnbull

series ordinal

2

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language of work or name

1 reference

24 March 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24675282%20AND%20SRC:MED&resulttype=core&format=json

Experimental Cell Research

12 March 2020

published in

3 references

24 March 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24675282%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

volume

325

2 references

PubMed

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24675282%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

issue

1

2 references

PubMed

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24675282%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

page(s)

38-43

2 references

PubMed

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24675282%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 3.0 Unported

12 March 2020

copyright license

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on focus list of Wikimedia project

24 March 2019

copyright status

copyrighted

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ScienceSource

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cites work

Mitochondrial DNA mutations in human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

Premature ageing in mice expressing defective mitochondrial DNA polymerase

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

Subacute necrotizing encephalomyelopathy in an infant

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

Sequence and organization of the human mitochondrial genome

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

Breaking the code of DNA binding specificity of TAL-type III effectors

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

Wobble modification defect in tRNA disturbs codon-anticodon interaction in a mitochondrial disease

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

Deletions of mitochondrial DNA in Kearns-Sayre syndrome

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

Genetic engineering of human pluripotent cells using TALE nucleases

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

Coupling of phosphorylation to electron and hydrogen transfer by a chemi-osmotic type of mechanism

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

Disease progression in patients with single, large-scale mitochondrial DNA deletions

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

Specific elimination of mutant mitochondrial genomes in patient-derived cells by mitoTALENs

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

Development of a single-chain, quasi-dimeric zinc-finger nuclease for the selective degradation of mutated human mitochondrial DNA.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

What causes mitochondrial DNA deletions in human cells?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

Sequence-specific modification of mitochondrial DNA using a chimeric zinc finger methylase

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

Codon-specific translational defect caused by a wobble modification deficiency in mutant tRNA from a human mitochondrial disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

Gene therapy for mitochondrial disease by delivering restriction endonuclease SmaI into mitochondria

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNA(Lys) with the MERRF encephalomyopathy pathogenic mutation.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

Peptide nucleic acid delivery to human mitochondria

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

The aleu207-->arg mutation in F1F0-ATP synthase from Escherichia coli. A model for human mitochondrial disease.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

Two ways to make an mtDNA bottleneck

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

Dimerization of a pathogenic human mitochondrial tRNA.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4058519

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

28 November 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.03.012

Homoplasmy, heteroplasmy, and mitochondrial dystonia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.03.012

Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.03.012

A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.03.012

Multiple short direct repeats associated with single mtDNA deletions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2014.03.012

10.1016/J.YEXCR.2014.03.012

7 January 2021

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24675282%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

1 reference

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12 March 2020

2 references