(Q28290165)

7

0 references

Neil Ashley

Neil Ashley

5

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Johannes N Spelbrink

Johannes N Spelbrink

8

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Ian Holt

Ian J Holt

9

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Henna Tyynismaa

Henna Tyynismaa

1

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Joanna Poulton

Joanna Poulton

6

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author name string

Hiroshi Sembongi

2

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Monika Bokori-Brown

3

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Caroline Granycome

4

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Anu Suomalainen

Diseases caused by nuclear genes affecting mtDNA stability

10

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language of work or name

English

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publication date

15 December 2004

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published in

Human Molecular Genetics

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volume

13

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page(s)

3219-27

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issue

24

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cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

Premature ageing in mice expressing defective mitochondrial DNA polymerase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

Role of adenine nucleotide translocator 1 in mtDNA maintenance

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

TWINKLE Has 5' -> 3' DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

Clinical and molecular features of adPEO due to mutations in the Twinkle gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

Composition and dynamics of human mitochondrial nucleoids

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

Failure to produce mitochondrial DNA results in embryonic lethality in Rnaseh1 null mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

Overexpression of the catalytic subunit of DNA polymerase gamma results in depletion of mitochondrial DNA in Drosophila melanogaster.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

Functional domains of chicken mitochondrial transcription factor A for the maintenance of mitochondrial DNA copy number in lymphoma cell line DT40.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

Mitochondrial transcription factor A regulates mtDNA copy number in mammals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

Drosophila mitochondrial transcription factor B2 regulates mitochondrial DNA copy number and transcription in schneider cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

The functional organization of mitochondrial genomes in human cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

Organization and dynamics of human mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

Reconstitution of a minimal mtDNA replisome in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

Structural compensation for the deficit of rRNA with proteins in the mammalian mitochondrial ribosome. Systematic analysis of protein components of the large ribosomal subunit from mammalian mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

The large subunit of the mammalian mitochondrial ribosome. Analysis of the complement of ribosomal proteins present

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

Human poly(ADP-ribose) glycohydrolase (PARG) gene and the common promoter sequence it shares with inner mitochondrial membrane translocase 23 (TIM23)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

Characterization of the bidirectional promoter region between the human genes encoding VLCAD and PSD-95

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

Mitochondrial nucleoid and transcription factor A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

Mechanism of mammalian mitochondrial DNA replication: import of mitochondrial transcription factor A into isolated mitochondria stimulates 7S DNA synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

Mammalian mitochondrial DNA replicates bidirectionally from an initiation zone.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342

A human beta-actin expression vector system directs high-level accumulation of antisense transcripts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH342