{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T06:03:54Z","timestamp":1790143434726,"version":"4.0.1"},"reference-count":33,"publisher":"Public Library of Science (PLoS)","issue":"3","license":[{"start":{"date-parts":[[2011,3,31]],"date-time":"2011-03-31T00:00:00Z","timestamp":1301529600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosgenetics.org"],"crossmark-restriction":false},"short-container-title":["PLoS Genet"],"DOI":"10.1371\/journal.pgen.1002035","type":"journal-article","created":{"date-parts":[[2011,3,31]],"date-time":"2011-03-31T21:15:16Z","timestamp":1301606116000},"page":"e1002035","update-policy":"https:\/\/doi.org\/10.1371\/journal.pgen.corrections_policy","source":"Crossref","is-referenced-by-count":93,"title":["Limited dCTP Availability Accounts for Mitochondrial DNA Depletion in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)"],"prefix":"10.1371","volume":"7","author":[{"given":"Emiliano","family":"Gonz\u00e1lez-Vioque","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javier","family":"Torres-Torronteras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoni L.","family":"Andreu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramon","family":"Mart\u00ed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2011,3,31]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1016\/j.nmd.2010.03.017","article-title":"Mitochondrial DNA depletion syndromes - Many genes, common mechanisms.","volume":"20","author":"A Suomalainen","year":"2010","journal-title":"Neuromuscul Disord"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1038\/ng2040","article-title":"Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.","volume":"39","author":"A Bourdon","year":"2007","journal-title":"Nat Genet"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/ng746","article-title":"The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA.","volume":"29","author":"H Mandel","year":"2001","journal-title":"Nat Genet"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1126\/science.283.5402.689","article-title":"Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.","volume":"283","author":"I Nishino","year":"1999","journal-title":"Science"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1038\/ng751","article-title":"Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy.","volume":"29","author":"A Saada","year":"2001","journal-title":"Nat Genet"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"17801","DOI":"10.1073\/pnas.0808198105","article-title":"Ribonucleotide reduction is a cytosolic process in mammalian cells independently of DNA damage.","volume":"105","author":"G Pontarin","year":"2008","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1093\/hmg\/ddn401","article-title":"Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice.","volume":"18","author":"LC Lopez","year":"2009","journal-title":"Hum Mol Genet"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1016\/j.mrgentox.2010.06.002","article-title":"Regulation by degradation, a cellular defense against deoxyribonucleotide pool imbalances.","volume":"703","author":"C Rampazzo","year":"2010","journal-title":"Mutat Res"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"3904","DOI":"10.1016\/S0021-9258(19)43819-2","article-title":"Effects of thymidine on deoxyribonucleoside triphosphate pools and deoxyribonucleic acid synthesis in Chinese hamster ovary cells.","volume":"248","author":"G Bjursell","year":"1973","journal-title":"J Biol Chem"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"24472","DOI":"10.1074\/jbc.M502869200","article-title":"Mitochondrial deoxynucleotide pools in quiescent fibroblasts: a possible model for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).","volume":"280","author":"P Ferraro","year":"2005","journal-title":"J Biol Chem"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"22720","DOI":"10.1074\/jbc.M604498200","article-title":"Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathy.","volume":"281","author":"G Pontarin","year":"2006","journal-title":"J Biol Chem"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"43893","DOI":"10.1074\/jbc.C300401200","article-title":"Deoxyribonucleotide pool imbalance stimulates deletions in HeLa cell mitochondrial DNA.","volume":"278","author":"S Song","year":"2003","journal-title":"J Biol Chem"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"1861","DOI":"10.1093\/nar\/22.10.1861","article-title":"Highly efficient DNA synthesis in isolated mitochondria from rat liver.","volume":"22","author":"JA Enriquez","year":"1994","journal-title":"Nucleic Acids Res"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1111\/j.1432-1033.1968.tb00420.x","article-title":"Adenine nucleotide translocation of mitochondria. 1. Specificity and control.","volume":"6","author":"E Pfaff","year":"1968","journal-title":"Eur J Biochem"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"3920","DOI":"10.1016\/S0021-9258(17)36438-4","article-title":"Kinetics and specificity of the adenine nucleotide translocation in rat liver mitochondria.","volume":"244","author":"ED Duee","year":"1969","journal-title":"J Biol Chem"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"6963","DOI":"10.1074\/jbc.M206143200","article-title":"Kinetic properties of mutant human thymidine kinase 2 suggest a mechanism for mitochondrial DNA depletion myopathy.","volume":"278","author":"L Wang","year":"2003","journal-title":"J Biol Chem"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1042\/bj3510469","article-title":"Cloning and characterization of full-length mouse thymidine kinase 2: the N-terminal sequence directs import of the precursor protein into mitochondria.","volume":"351 Pt 2","author":"L Wang","year":"2000","journal-title":"Biochem J"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"8208","DOI":"10.1093\/nar\/gkq735","article-title":"Ribonucleotide reductase is not limiting for mitochondrial DNA copy number in mice.","volume":"38","author":"E Ylikallio","year":"2010","journal-title":"Nucleic Acids Res"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"1913","DOI":"10.1172\/JCI17828","article-title":"Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency.","volume":"111","author":"Y Nishigaki","year":"2003","journal-title":"J Clin Invest"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1093\/hmg\/ddh010","article-title":"ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy.","volume":"13","author":"Y Nishigaki","year":"2004","journal-title":"Hum Mol Genet"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"4620","DOI":"10.1074\/jbc.274.8.4620","article-title":"Characterization of a dCTP transport activity reconstituted from human mitochondria.","volume":"274","author":"EG Bridges","year":"1999","journal-title":"J Biol Chem"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"1590","DOI":"10.1093\/hmg\/ddp074","article-title":"In vitro supplementation with dAMP\/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes.","volume":"18","author":"S Bulst","year":"2009","journal-title":"Hum Mol Genet"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"1839","DOI":"10.1093\/hmg\/ddg192","article-title":"Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts.","volume":"12","author":"JW Taanman","year":"2003","journal-title":"Hum Mol Genet"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"1458","DOI":"10.1212\/01.wnl.0000240853.97716.24","article-title":"Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE.","volume":"67","author":"M Hirano","year":"2006","journal-title":"Neurology"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1007\/s00280-010-1337-6","article-title":"Plasma pharmacokinetics and oral bioavailability of the 3,4,5,6-tetrahydrouridine (THU) prodrug, triacetyl-THU (taTHU), in mice.","volume":"67","author":"JH Beumer","year":"2011","journal-title":"Cancer Chemother Pharmacol"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1016\/S1046-2023(02)00034-8","article-title":"Isolation of biogenetically competent mitochondria from mammalian tissues and cultured cells.","volume":"26","author":"E Fernandez-Vizarra","year":"2002","journal-title":"Methods"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1007\/978-1-59745-365-3_16","article-title":"Analysis of replicating mitochondrial DNA by two-dimensional agarose gel electrophoresis.","volume":"372","author":"A Reyes","year":"2007","journal-title":"Methods Mol Biol"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"e85","DOI":"10.1093\/nar\/gkp1141","article-title":"Quantitation of cellular deoxynucleoside triphosphates.","volume":"38","author":"P Ferraro","year":"2010","journal-title":"Nucleic Acids Res"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1111\/j.1365-2893.2006.00779.x","article-title":"Peginterferon alpha-2b plus ribavirin vs interferon alpha-2b plus ribavirin for chronic hepatitis C in HIV-coinfected patients.","volume":"14","author":"M Crespo","year":"2007","journal-title":"J Viral Hepat"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"4490","DOI":"10.1074\/jbc.M307938200","article-title":"Mitochondrial expression of the human equilibrative nucleoside transporter 1 (hENT1) results in enhanced mitochondrial toxicity of antiviral drugs.","volume":"279","author":"Y Lai","year":"2004","journal-title":"J Biol Chem"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"16700","DOI":"10.1074\/jbc.M513825200","article-title":"Identification of the mitochondrial targeting signal of the human equilibrative nucleoside transporter 1 (hENT1): implications for interspecies differences in mitochondrial toxicity of fialuridine.","volume":"281","author":"EW Lee","year":"2006","journal-title":"J Biol Chem"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"18586","DOI":"10.1073\/pnas.0609020103","article-title":"Mitochondrial deoxynucleotide pool sizes in mouse liver and evidence for a transport mechanism for thymidine monophosphate.","volume":"103","author":"P Ferraro","year":"2006","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"6466","DOI":"10.1093\/nar\/gkq493","article-title":"Differential regulation of full-length genome and a single-stranded 7S DNA along the cell cycle in human mitochondria.","volume":"38","author":"A Antes","year":"2010","journal-title":"Nucleic Acids Res"}],"container-title":["PLoS Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pgen.1002035","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,20]],"date-time":"2021-11-20T23:39:10Z","timestamp":1637451550000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pgen.1002035"}},"subtitle":[],"editor":[{"given":"Nils-G\u00f6ran","family":"Larsson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2011,3,31]]},"references-count":33,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2011,3,31]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pgen.1002035","relation":{},"ISSN":["1553-7404"],"issn-type":[{"value":"1553-7404","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,3,31]]}}}