(Q34147661)

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Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

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12 November 2019

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12210792%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

mitochondrial DNA

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Valeria Tiranti

2

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12 November 2019

Eleonora Lamantea

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12 November 2019

Johannes N Spelbrink

8

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12 November 2019

Laura Silvestri

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12 November 2019

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12 November 2019

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12 November 2019

Massimo Zeviani

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Massimo Zeviani

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12 November 2019

Andreina Bordoni

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Andreina Bordoni

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12 November 2019

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Antonio Toscano

4

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12 November 2019

Francesco Bono

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12 November 2019

Serena Servidei

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12 November 2019

Alex Papadimitriou

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12 November 2019

publication date

1 August 2002

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12 November 2019

Annals of Neurology

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12 November 2019

52

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12 November 2019

2

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12 November 2019

211-219

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12 November 2019

Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies

1 reference

https://api.crossref.org/works/10.1002%2FANA.10278

21 January 2018

Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia

1 reference

https://api.crossref.org/works/10.1002%2FANA.10278

21 January 2018

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

1 reference

https://api.crossref.org/works/10.1002%2FANA.10278

21 January 2018

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

1 reference

https://api.crossref.org/works/10.1002%2FANA.10278

21 January 2018

A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia

1 reference

https://api.crossref.org/works/10.1002%2FANA.10278

21 January 2018

An autosomal locus predisposing to deletions of mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1002%2FANA.10278

21 January 2018

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

1 reference

https://api.crossref.org/works/10.1002%2FANA.10278

21 January 2018

Role of adenine nucleotide translocator 1 in mtDNA maintenance

1 reference

https://api.crossref.org/works/10.1002%2FANA.10278

21 January 2018

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

1 reference

https://api.crossref.org/works/10.1002%2FANA.10278

21 January 2018

Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase gamma

1 reference

https://api.crossref.org/works/10.1002%2FANA.10278

21 January 2018

Mitochondrial DNA polymerases from yeast to man: a new family of polymerases

1 reference

https://api.crossref.org/works/10.1002%2FANA.10278

21 January 2018

The accessory subunit of mtDNA polymerase shares structural homology with aminoacyl-tRNA synthetases: implications for a dual role as a primer recognition factor and processivity clamp

1 reference

https://api.crossref.org/works/10.1002%2FANA.10278

21 January 2018

Protein sequences conserved in prokaryotic aminoacyl-tRNA synthetases are important for the activity of the processivity factor of human mitochondrial DNA polymerase

1 reference

https://api.crossref.org/works/10.1002%2FANA.10278

21 January 2018

The mitochondrial p55 accessory subunit of human DNA polymerase gamma enhances DNA binding, promotes processive DNA synthesis, and confers N-ethylmaleimide resistance

1 reference

https://api.crossref.org/works/10.1002%2FANA.10278

21 January 2018

Accessory subunit of mitochondrial DNA polymerase from Drosophila embryos. Cloning, molecular analysis, and association in the native enzyme

1 reference

https://api.crossref.org/works/10.1002%2FANA.10278

21 January 2018

Dynamic mutations: a decade of unstable expanded repeats in human genetic disease

1 reference

https://api.crossref.org/works/10.1002%2FANA.10278

21 January 2018

Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals

1 reference

https://api.crossref.org/works/10.1002%2FANA.10278

21 January 2018

In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells

1 reference

https://api.crossref.org/works/10.1002%2FANA.10278

21 January 2018

Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis

1 reference

https://api.crossref.org/works/10.1002%2FANA.10278

21 January 2018

Replication of animal mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1002%2FANA.10278

21 January 2018

Nucleus-driven mutations of human mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1002%2FANA.10278

21 January 2018

Functional interactions of mitochondrial DNA polymerase and single-stranded DNA-binding protein. Template-primer DNA binding and initiation and elongation of DNA strand synthesis

1 reference

https://api.crossref.org/works/10.1002%2FANA.10278

21 January 2018

Cloning of human and rat cDNAs encoding the mitochondrial single-stranded DNA-binding protein (SSB)

1 reference

https://api.crossref.org/works/10.1002%2FANA.10278

21 January 2018

Mitochondrial single-stranded DNA-binding protein is required for mitochondrial DNA replication and development in Drosophila melanogaster

1 reference

https://api.crossref.org/works/10.1002%2FANA.10278

21 January 2018

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

1 reference

https://api.crossref.org/works/10.1002%2FANA.10278

21 January 2018

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1002%2FANA.10278

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FANA.10278

21 January 2018

Identifiers

10.1002/ANA.10278

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12210792%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12210792%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

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