{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T14:07:56Z","timestamp":1791122876668,"version":"4.1.0"},"reference-count":23,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2025,8]]},"DOI":"10.1016\/j.ymgme.2025.109159","type":"journal-article","created":{"date-parts":[[2025,6,3]],"date-time":"2025-06-03T19:31:55Z","timestamp":1748979115000},"page":"109159","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"title":["Doxecitine and doxribtimine treatment in an adult patient with thymidine kinase 2 deficiency"],"prefix":"10.1016","volume":"145","author":[{"given":"Elsbeth","family":"Chow","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsey","family":"Miller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Clearman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Arnold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary Kay","family":"Koenig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. Nicholas","family":"Russo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.ymgme.2025.109159_bb0005","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1007\/s13311-013-0177-6","article-title":"Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options","volume":"10","author":"El-Hattab","year":"2013","journal-title":"Neurotherapeutics"},{"issue":"3","key":"10.1016\/j.ymgme.2025.109159_bb0010","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":"Saada","year":"2001","journal-title":"Nat. Genet."},{"issue":"8","key":"10.1016\/j.ymgme.2025.109159_bb0015","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.1007\/s00018-002-8511-x","article-title":"Structure and function of cellular deoxyribonucleoside kinases","volume":"59","author":"Eriksson","year":"2002","journal-title":"Cell. Mol. Life Sci."},{"issue":"2","key":"10.1016\/j.ymgme.2025.109159_bb0020","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1016\/S0014-5793(98)01711-6","article-title":"Human thymidine kinase 2: molecular cloning and characterisation of the enzyme activity with antiviral and cytostatic nucleoside substrates","volume":"443","author":"Wang","year":"1999","journal-title":"FEBS Lett."},{"key":"10.1016\/j.ymgme.2025.109159_bb0025","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1007\/978-1-4615-7703-4_53","article-title":"Expression and substrate specificities of human thymidine kinase 1, thymidine kinase 2 and deoxycytidine kinase","volume":"309B","author":"Eriksson","year":"1991","journal-title":"Adv. Exp. Med. Biol."},{"issue":"8","key":"10.1016\/j.ymgme.2025.109159_bb0030","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1136\/jmedgenet-2017-105012","article-title":"Retrospective natural history of thymidine kinase 2 deficiency","volume":"55","author":"Garone","year":"2018","journal-title":"J. Med. Genet."},{"issue":"7","key":"10.1016\/j.ymgme.2025.109159_bb0035","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1001\/archneur.60.7.1007","article-title":"Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene","volume":"60","author":"Mancuso","year":"2003","journal-title":"Arch. Neurol."},{"issue":"8","key":"10.1016\/j.ymgme.2025.109159_bb0040","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1212\/01.WNL.0000028689.93049.9A","article-title":"Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA","volume":"59","author":"Mancuso","year":"2002","journal-title":"Neurology"},{"issue":"2","key":"10.1016\/j.ymgme.2025.109159_bb0045","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.ymgme.2018.04.012","article-title":"Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect","volume":"124","author":"Wang","year":"2018","journal-title":"Mol. Genet. Metab."},{"issue":"8","key":"10.1016\/j.ymgme.2025.109159_bb0050","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1001\/archneur.63.8.1122","article-title":"Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene","volume":"63","author":"Oskoui","year":"2006","journal-title":"Arch. Neurol."},{"issue":"2","key":"10.1016\/j.ymgme.2025.109159_bb0055","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000200138","article-title":"Clinical and genetic analysis of patients with TK2 deficiency","volume":"10","author":"Ceballos","year":"2024","journal-title":"Neurol. Genet."},{"issue":"2","key":"10.1016\/j.ymgme.2025.109159_bb0060","doi-asserted-by":"crossref","DOI":"10.3390\/metabo11020112","article-title":"Transporters at the interface between cytosolic and mitochondrial amino acid metabolism","volume":"11","author":"Hewton","year":"2021","journal-title":"Metabolites"},{"issue":"22","key":"10.1016\/j.ymgme.2025.109159_bb0065","doi-asserted-by":"crossref","first-page":"11941","DOI":"10.1073\/pnas.94.22.11941","article-title":"Human deoxycytidine kinase is located in the cell nucleus","volume":"94","author":"Johansson","year":"1997","journal-title":"Proc. Natl. Acad. Sci. USA"},{"issue":"8","key":"10.1016\/j.ymgme.2025.109159_bb0070","doi-asserted-by":"crossref","first-page":"1016","DOI":"10.15252\/emmm.201404092","article-title":"Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency","volume":"6","author":"Garone","year":"2014","journal-title":"EMBO Mol. Med."},{"issue":"16","key":"10.1016\/j.ymgme.2025.109159_bb0075","doi-asserted-by":"crossref","first-page":"2433","DOI":"10.1093\/hmg\/ddn143","article-title":"Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance","volume":"17","author":"Akman","year":"2008","journal-title":"Hum. Mol. Genet."},{"issue":"2","key":"10.1016\/j.ymgme.2025.109159_bb0080","doi-asserted-by":"crossref","first-page":"225","DOI":"10.3233\/JND-210786","article-title":"Advances in thymidine kinase 2 deficiency: clinical aspects, translational progress, and emerging therapies","volume":"9","author":"Berardo","year":"2022","journal-title":"J. Neuromuscul. Dis."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109159_bb0085","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1186\/s13023-021-02030-w","article-title":"Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency","volume":"16","author":"Dominguez-Gonzalez","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"issue":"6","key":"10.1016\/j.ymgme.2025.109159_bb0090","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1016\/j.nmd.2005.03.010","article-title":"Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion","volume":"15","author":"Tulinius","year":"2005","journal-title":"Neuromuscul. Disord."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109159_bb0095","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1093\/hmg\/ddr438","article-title":"Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions","volume":"21","author":"Tyynismaa","year":"2012","journal-title":"Hum. Mol. Genet."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109159_bb0100","doi-asserted-by":"crossref","DOI":"10.1136\/bmjresp-2020-000774","article-title":"Deoxynucleoside therapy for respiratory involvement in adult patients with thymidine kinase 2-deficient myopathy","volume":"7","author":"Hernandez-Voth","year":"2020","journal-title":"BMJ Open Respir. Res."},{"issue":"2","key":"10.1016\/j.ymgme.2025.109159_bb0105","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1002\/ana.25506","article-title":"Deoxynucleoside therapy for thymidine kinase 2-deficient myopathy","volume":"86","author":"Dominguez-Gonzalez","year":"2019","journal-title":"Ann. Neurol."},{"issue":"12","key":"10.1016\/j.ymgme.2025.109159_bb0110","doi-asserted-by":"crossref","DOI":"10.3390\/ijms22126447","article-title":"Therapy prospects for mitochondrial DNA maintenance disorders","volume":"22","author":"Ramon","year":"2021","journal-title":"Int. J. Mol. Sci."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109159_bb0115","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1042\/EBC20170114","article-title":"Emerging therapies for mitochondrial diseases","volume":"62","author":"Hirano","year":"2018","journal-title":"Essays Biochem."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719225001507?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719225001507?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,12,4]],"date-time":"2025-12-04T07:54:57Z","timestamp":1764834897000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719225001507"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8]]},"references-count":23,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,8]]}},"alternative-id":["S1096719225001507"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2025.109159","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2025,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Doxecitine and doxribtimine treatment in an adult patient with thymidine kinase 2 deficiency","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2025.109159","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"109159"}}