(Q34195471)

31 July 2017

1 reference

title

Inherited mitochondrial DNA depletion (English)

1 reference

31 July 2017

0 references

Orly Elpeleg

1

1 reference

31 July 2017

language of work or name

English

0 references

publication date

7 May 2003

1 reference

31 July 2017

1 reference

31 July 2017

volume

54

1 reference

31 July 2017

issue

2

1 reference

31 July 2017

page(s)

153-159

1 reference

https://scigraph.springernature.com/pub.10.1203/01.pdr.0000072796.25097.a5

31 July 2017

exact match

0 references

cites work

Mitochondrial origins

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Accelerated evolution and Muller's rachet in endosymbiotic bacteria

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Why have organelles retained genomes?

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Clinical manifestations of mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Diagnostic value of succinate ubiquinone reductase activity in the identification of patients with mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Tissue variation in the control of oxidative phosphorylation: implication for mitochondrial diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Pharmacology of nucleoside and nucleotide reverse transcriptase inhibitor-induced mitochondrial toxicity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Differential incorporation and removal of antiviral deoxynucleotides by human DNA polymerase gamma

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Cellular and molecular events leading to mitochondrial toxicity of 1-(2-deoxy-2-fluoro-1-beta-D-arabinofuranosyl)-5-iodouracil in human liver cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Maintenance and integrity of the mitochondrial genome: a plethora of nuclear genes in the budding yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Cell cycle-dependent metabolism of pyrimidine deoxynucleoside triphosphates in CEM cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

The human mitochondrial deoxynucleotide carrier and its role in the toxicity of nucleoside antivirals

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Altered thymidine metabolism due to defects of thymidine phosphorylase

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

MNGIE: from nuclear DNA to mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Mitochondrial DNA depletion and dGK gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Ribonucleotide reductase: evidence for specific association with HeLa cell mitochondria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Four deoxynucleoside kinase activities from Drosophila melanogaster are contained within a single monomeric enzyme, a new multifunctional deoxynucleoside kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Deoxyribonucleoside kinases belonging to the thymidine kinase 2 (TK2)-like group vary significantly in substrate specificity, kinetics and feed-back regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Mammalian deoxyribonucleoside kinases

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Functional expression of a multisubstrate deoxyribonucleoside kinase from Drosophila melanogaster and its C-terminal deletion mutants

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

A deoxyribonucleotidase in mitochondria: involvement in regulation of dNTP pools and possible link to genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Targeted deletion of both thymidine phosphorylase and uridine phosphorylase and consequent disorders in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

nm23-H4, a new member of the family of human nm23/nucleoside diphosphate kinase genes localised on chromosome 16p13

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

The human nm23-H4 gene product is a mitochondrial nucleoside diphosphate kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

A novel human nucleoside diphosphate (NDP) kinase, Nm23-H6, localizes in mitochondria and affects cytokinesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Mutant deoxynucleotide carrier is associated with congenital microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Differential expression of mitochondrial DNA replication factors in mammalian tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Human mitochondrial topoisomerase I

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Cloning of human and rat cDNAs encoding the mitochondrial single-stranded DNA-binding protein (SSB)

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Dual localization of human DNA topoisomerase IIIalpha to mitochondria and nucleus

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

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/10.1203%2F01.PDR.0000072796.25097.A5

Cytoplasmic tyrosyl-tRNA synthetase rescues the defect in mitochondrial genome maintenance caused by the nuclear mutation mgm104-1 in the yeast Saccharomyces cerevisiae

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

Role of adenine nucleotide translocator 1 in mtDNA maintenance

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000072796.25097.A5

10.1203/01.PDR.0000072796.25097.A5

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

31 July 2017

1010427442

0 references

Fatcat ID

release_pm6uqrxphjbynbmbm75dhlhe5m

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/pm6uqrxphjbynbmbm75dhlhe5m

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference