(Q33994118)

30 July 2017

title

Somatic mitochondrial DNA deletions accumulate to high levels in aging human extraocular muscles (English)

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30 July 2017

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Patrick Yu-Wai-Man

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30 July 2017

Robert William Taylor

7

object named as

Robert W Taylor

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Douglass Matthew Turnbull

30 July 2017

9

object named as

Douglass M Turnbull

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30 July 2017

6

Laura C Greaves

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30 July 2017

8

Philip G Griffiths

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30 July 2017

3

Gillian M Borthwick

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30 July 2017

Joey Lai-Cheong

2

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30 July 2017

Langping He

4

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30 July 2017

Geoffrey A Taylor

5

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30 July 2017

language of work or name

English

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publication date

17 February 2010

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Investigative Ophthalmology Visual Science

30 July 2017

published in

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30 July 2017

volume

51

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30 July 2017

issue

7

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30 July 2017

page(s)

3347-3353

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Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.

30 July 2017

cites work

1 reference

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The low abundance of clonally expanded mitochondrial DNA point mutations in aged substantia nigra neurons

5 July 2018

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Pathogenic mitochondrial DNA mutations are common in the general population

5 July 2018

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5 July 2018

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A functionally dominant mitochondrial DNA mutation

5 July 2018

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The ageing mitochondrial genome

5 July 2018

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Prevalence of mitochondrial DNA disease in adults

5 July 2018

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Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A-->G.

5 July 2018

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Mitochondrial DNA-deletion mutations accumulate intracellularly to detrimental levels in aged human skeletal muscle fibers

5 July 2018

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5 July 2018

Mitochondrial disease

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

5 July 2018

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mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences

5 July 2018

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Biological organization of the extraocular muscles

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904001

Extraocular muscles have fundamentally distinct properties that make them selectively vulnerable to certain disorders

5 July 2018

1 reference

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MITOMAP: a human mitochondrial genome database--2004 update

5 July 2018

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Premature ageing in mice expressing defective mitochondrial DNA polymerase

5 July 2018

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Continuous myofiber remodeling in uninjured extraocular myofibers: myonuclear turnover and evidence for apoptosis.

5 July 2018

1 reference

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Mitochondrial DNA mutations in human colonic crypt stem cells

5 July 2018

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Activated Satellite Cells in Extraocular Muscles of Normal Adult Monkeys and Humans

5 July 2018

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The Protein Information Resource

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904001

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904001

Clonally expanded mtDNA point mutations are abundant in individual cells of human tissues

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904001

Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904001

Mitochondrial DNA deletion mutations are concomitant with ragged red regions of individual, aged muscle fibers: analysis by laser-capture microdissection

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904001

The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904001

Muscle-specific mutations accumulate with aging in critical human mtDNA control sites for replication

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904001

Cytochrome c oxidase deficient cells accumulate in the hippocampus and choroid plexus with age.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904001

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904001

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904001

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904001

Relaxed replication of mtDNA: A model with implications for the expression of disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904001

Mutations in mitochondrial DNA accumulate differentially in three different human tissues during ageing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904001

Extraocular muscles: basic and clinical aspects of structure and function.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904001

Mitochondrial morphometrics of histochemically identified human extraocular muscle fibers

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904001

A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904001

Cytochrome-c-oxidase deficient cardiomyocytes in the human heart--an age-related phenomenon. A histochemical ultracytochemical study.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904001

Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904001

Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904001

Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904001

Nature of mitochondrial DNA deletions in substantia nigra neurons

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904001

Population prevalence of the MELAS A3243G mutation.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904001

Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904001

Mitochondrial abnormalities are more frequent in muscles undergoing sarcopenia.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904001

Continuous myonuclear addition to single extraocular myofibers in uninjured adult rabbits.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904001

Mitochondrial abnormalities in ageing macular photoreceptors.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904001

Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function

29 October 2018

1 reference

12 December 2020

Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism?

1 reference

12 December 2020

Blood flow in extraocular muscle of cat

1 reference

12 December 2020

Fatigue resistance of human extraocular muscles

1 reference

12 December 2020

Cytochrome c oxidase deficient fibres in the limb muscle and diaphragm of man without muscular disease: an age-related alteration

1 reference

12 December 2020

Progressive loss of cytochrome c oxidase in the human extraocular muscles in ageing--a cytochemical-immunohistochemical study

1 reference

12 December 2020

Different in situ hybridization patterns of mitochondrial DNA in cytochrome c oxidase-deficient extraocular muscle fibres in the elderly

1 reference

12 December 2020

Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy

1 reference

12 December 2020

A new mitochondrial DNA mutation associated with progressive dementia and chorea: A clinical, pathological, and molecular genetic study

1 reference

12 December 2020

Effects of physical activity and age on mitochondrial function

1 reference

12 December 2020

Role of mitochondrial DNA mutations in human aging: implications for the central nervous system and muscle

1 reference

12 December 2020

Identifiers

DOI

10.1167/IOVS.09-4660

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30 July 2017

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30 July 2017

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