(Q37207113)

18 August 2017

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title

Molecular mechanisms of mitochondrial DNA depletion diseases caused by deficiencies in enzymes in purine and pyrimidine metabolism (English)

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18 August 2017

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Staffan Eriksson

1

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18 August 2017

Liya Wang

series ordinal

2

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18 August 2017

publication date

1 June 2008

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Nucleosides, Nucleotides & Nucleic Acids

18 August 2017

published in

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18 August 2017

volume

27

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18 August 2017

issue

6

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18 August 2017

page(s)

800-808

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Mitochondrial respiratory-chain diseases

18 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1080%2F15257770802146197

Inherited mitochondrial DNA depletion

21 January 2018

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Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

21 January 2018

1 reference

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p53R2-dependent ribonucleotide reduction provides deoxyribonucleotides in quiescent human fibroblasts in the absence of induced DNA damage.

21 January 2018

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Structure and function of cellular deoxyribonucleoside kinases

21 January 2018

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https://api.crossref.org/works/10.1080%2F15257770802146197

Mammalian 5'-nucleotidases

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770802146197

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770802146197

Expression of deoxynucleotide carrier is not associated with the mitochondrial DNA depletion caused by anti-HIV dideoxynucleoside analogs and mitochondrial dNTP uptake

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770802146197

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770802146197

POLG mutations in Alpers syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770802146197

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770802146197

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770802146197

Structural basis for substrate specificities of cellular deoxyribonucleoside kinases

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770802146197

Binding of the Volatile Anesthetic Chloroform to Albumin Demonstrated Using Tryptophan Fluorescence Quenching

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770802146197

Human thymidine kinase 2: molecular cloning and characterisation of the enzyme activity with antiviral and cytostatic nucleoside substrates

21 January 2018

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Cloning and characterization of full-length mouse thymidine kinase 2: the N-terminal sequence directs import of the precursor protein into mitochondria

21 January 2018

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New mutations in TK2 gene associated with mitochondrial DNA depletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770802146197

Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770802146197

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770802146197

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770802146197

Kinetic properties of mutant human thymidine kinase 2 suggest a mechanism for mitochondrial DNA depletion myopathy

21 January 2018

1 reference

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Mitochondrial deoxyguanosine kinase mutations and mitochondrial DNA depletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770802146197

Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770802146197

Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770802146197

Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770802146197

Expression of deoxynucleoside kinases and 5'-nucleotidases in mouse tissues: implications for mitochondrial toxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770802146197

Ribonucleotide reductase and mitochondrial DNA synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770802146197

Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770802146197

10.1080/15257770802146197

21 January 2018

Identifiers

DOI

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18 August 2017

1 reference