(Q48695066)

14 February 2018

editorial

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title

Dysfunctional mitochondrial maintenance: what breaks the circle of life? (English)

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14 February 2018

1

Patrick Yu-Wai-Man

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14 February 2018

2

Patrick F Chinnery

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PubMed ID

22271662

14 February 2018

language of work or name

English

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publication date

23 January 2012

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14 February 2018

published in

Brain

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14 February 2018

volume

135

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14 February 2018

issue

Pt 1

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14 February 2018

page(s)

9-11

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14 February 2018

A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy.

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR352

Subtle neurological and metabolic abnormalities in an Opa1 mouse model of autosomal dominant optic atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR352

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR352

Ultra-deep sequencing of mouse mitochondrial DNA: mutational patterns and their origins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR352

Subclinical multisystem neurologic disease in "pure" OPA1 autosomal dominant optic atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR352

High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR352

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR352

Human mitochondrial DNA with large deletions repopulates organelles faster than full-length genomes under relaxed copy number control

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR352

Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR352

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR352

Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR352

Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR352

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR352

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR352

Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR352

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR352

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%2FBRAIN%2FAWR352

Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR352

Premature ageing in mice expressing defective mitochondrial DNA polymerase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR352

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%2FBRAIN%2FAWR352

Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR352

Multi-system neurological disease is common in patients with OPA1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR352

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWR352

1 reference

14 February 2018

PubMed ID

22271662

1 reference

14 February 2018