What causes mitochondrial DNA deletions in human cells? (Q37096545)

18 August 2017

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title

What causes mitochondrial DNA deletions in human cells? (English)

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18 August 2017

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Sjoerd Wanrooij

7

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Johannes N Spelbrink

Johannes N Spelbrink

8

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David C. Samuels

David C Samuels

3

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Patrick F. Chinnery

4

Patrick F Chinnery

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18 August 2017

Robert William Taylor

6

Robert W Taylor

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Douglass Matthew Turnbull

18 August 2017

10

Doug M Turnbull

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18 August 2017

9

Robert N Lightowlers

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18 August 2017

Kim J Krishnan

1

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18 August 2017

Amy K Reeve

2

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18 August 2017

John K Blackwood

5

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18 August 2017

language of work or name

English

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publication date

1 March 2008

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18 August 2017

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18 August 2017

volume

40

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18 August 2017

issue

3

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18 August 2017

page(s)

275-279

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

18 August 2017

cites work

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

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

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

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Two direct repeats cause most human mtDNA deletions

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Nature of mitochondrial DNA deletions in substantia nigra neurons

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Biased incorporation of ribonucleotides on the mitochondrial L-strand accounts for apparent strand-asymmetric DNA replication.

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Insensitivity of cultured rat cortical neurons to mitochondrial DNA synthesis inhibitors: evidence for a slow turnover of mitochondrial DNA.

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Partners and pathwaysrepairing a double-strand break.

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Mammalian mitochondrial DNA replicates bidirectionally from an initiation zone

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Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA

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The human homolog of Escherichia coli Orn degrades small single-stranded RNA and DNA oligomers

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YNT20, a bypass suppressor of yme1 yme2, encodes a putative 3'-5' exonuclease localized in mitochondria of Saccharomyces cerevisiae

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Respiratory chain deficiency in a female with Aicardi-Goutières syndrome

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Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

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Involvement of RecB-mediated (but not RecF-mediated) repair of DNA double-strand breaks in the gamma-radiation production of long deletions in Escherichia coli

21 January 2018

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A mechanism for deletion formation in DNA by human cell extracts: the involvement of short sequence repeats

21 January 2018

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Double-strand breaks of mouse muscle mtDNA promote large deletions similar to multiple mtDNA deletions in humans

21 January 2018

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Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes.

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Mitochondrial disease in mouse results in increased oxidative stress

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Singlet oxygen mediates the UVA-induced generation of the photoaging-associated mitochondrial common deletion.

21 January 2018

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The use of a 3895 bp mitochondrial DNA deletion as a marker for sunlight exposure in human skin.

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Accumulation of the common mitochondrial DNA deletion induced by ionizing radiation

21 January 2018

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Reactive oxygen species and the central nervous system

21 January 2018

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Up-regulation of hMUTYH, a DNA repair enzyme, in the mitochondria of substantia nigra in Parkinson's disease

21 January 2018

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A proposed refinement of the mitochondrial free radical theory of aging

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

21 January 2018

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Mitochondrial genetics: a paradigm for aging and degenerative diseases?

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Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy

21 January 2018

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Risk of developing a mitochondrial DNA deletion disorder

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21 January 2018

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21 January 2018

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21 January 2018

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Rearranged mitochondrial genomes are present in human oocytes

21 January 2018

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Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

21 January 2018

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21 January 2018

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inferred from DOI database lookup

7 January 2021

based on heuristic

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

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inferred from DOI database lookup

7 January 2021

based on heuristic

Mitochondrial DNA mutations in human colonic crypt stem cells

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG.F.94

1 reference

18 August 2017

1 reference