{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T17:10:29Z","timestamp":1784740229378,"version":"3.55.0"},"reference-count":38,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2005,7,1]],"date-time":"2005-07-01T00:00:00Z","timestamp":1120176000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Gene"],"published-print":{"date-parts":[[2005,7]]},"DOI":"10.1016\/j.gene.2005.03.025","type":"journal-article","created":{"date-parts":[[2005,5,27]],"date-time":"2005-05-27T15:37:19Z","timestamp":1117208239000},"page":"162-168","source":"Crossref","is-referenced-by-count":89,"special_numbering":"C","title":["Disorders of nuclear-mitochondrial intergenomic signaling"],"prefix":"10.1016","volume":"354","author":[{"given":"Antonella","family":"Spinazzola","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Zeviani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2005.03.025_bib1","doi-asserted-by":"crossref","first-page":"1354","DOI":"10.1212\/01.WNL.0000056088.09408.3C","article-title":"Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)","volume":"60","author":"Agostino","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.gene.2005.03.025_bib2","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1016\/0140-6736(91)91294-5","article-title":"Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy","volume":"337","author":"Arnaudo","year":"1991","journal-title":"Lancet"},{"key":"10.1016\/j.gene.2005.03.025_bib3","doi-asserted-by":"crossref","first-page":"1493","DOI":"10.1083\/jcb.147.7.1493","article-title":"Adenine nucleotide translocase-1, a component of the permeability transition pore, can dominantly induce apoptosis","volume":"147","author":"Bauer","year":"1999","journal-title":"J. Cell. Biol."},{"key":"10.1016\/j.gene.2005.03.025_bib4","doi-asserted-by":"crossref","first-page":"1329","DOI":"10.1212\/WNL.46.5.1329","article-title":"Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy","volume":"46","author":"Bohlega","year":"1996","journal-title":"Neurology"},{"key":"10.1016\/j.gene.2005.03.025_bib5","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1016\/S0197-4580(02)00233-6","article-title":"High mutational burden in the mtDNA control region from aged muscles: a single-fiber study","volume":"24","author":"Del Bo","year":"2003","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.gene.2005.03.025_bib6","article-title":"Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-{gamma}A","volume":"21","author":"Ferrari","year":"2005","journal-title":"Brain"},{"key":"10.1016\/j.gene.2005.03.025_bib7","doi-asserted-by":"crossref","first-page":"1279","DOI":"10.1001\/archneur.60.9.1279","article-title":"Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma","volume":"60","author":"Filosto","year":"2003","journal-title":"Arch. Neurol. (Chic.)"},{"key":"10.1016\/j.gene.2005.03.025_bib8","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1038\/nsmb805","article-title":"Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia","volume":"11","author":"Graziewicz","year":"2004","journal-title":"Nat. Struct. Mol. Biol."},{"key":"10.1016\/j.gene.2005.03.025_bib9","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1212\/WNL.44.4.721","article-title":"Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder","volume":"44","author":"Hirano","year":"1994","journal-title":"Neurology"},{"key":"10.1016\/j.gene.2005.03.025_bib10","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1016\/S0092-8674(00)80688-1","article-title":"Coupled leading- and lagging-strand synthesis of mammalian mitochondrial DNA","volume":"100","author":"Holt","year":"2000","journal-title":"Cell"},{"key":"10.1016\/j.gene.2005.03.025_bib11","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1126\/science.289.5480.782","article-title":"Role of adenine nucleotide translocator 1 in mtDNA maintenance","volume":"289","author":"Kaukonen","year":"2000","journal-title":"Science"},{"key":"10.1016\/j.gene.2005.03.025_bib12","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1002\/ana.10278","article-title":"Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia","volume":"52","author":"Lamantea","year":"2002","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.gene.2005.03.025_bib13","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1016\/S0140-6736(04)16983-3","article-title":"Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study","volume":"364","author":"Luoma","year":"2004","journal-title":"Lancet"},{"key":"10.1016\/j.gene.2005.03.025_bib14","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":"22","author":"Mancuso","year":"2002","journal-title":"Neurology"},{"key":"10.1016\/j.gene.2005.03.025_bib15","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. (Chic.)"},{"key":"10.1016\/j.gene.2005.03.025_bib16","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":"Mandel","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.gene.2005.03.025_bib17","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1016\/S0022-3476(05)80335-X","article-title":"Fatal infantile liver failure associated with mitochondrial DNA depletion","volume":"121","author":"Mazziotta","year":"1992","journal-title":"J. Pediatr."},{"key":"10.1016\/j.gene.2005.03.025_bib18","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1002\/(SICI)1097-4598(199606)19:6<751::AID-MUS10>3.0.CO;2-O","article-title":"Muscle\u2013nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism","volume":"19","author":"Melberg","year":"1996","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.gene.2005.03.025_bib19","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/0022-510X(88)90096-2","article-title":"Familial mitochondrial myopathy associated with peripheral neuropathy: partial deficiencies of complex I and complex IV","volume":"86","author":"Mizusawa","year":"1988","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.gene.2005.03.025_bib38","first-page":"492","article-title":"mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases","volume":"48","author":"Moraes","year":"1991","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2005.03.025_bib20","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1002\/ana.410400506","article-title":"Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia","volume":"40","author":"Moslemi","year":"1996","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.gene.2005.03.025_bib21","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1002\/ana.20079","article-title":"POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion","volume":"55","author":"Naviauxn","year":"2004","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.gene.2005.03.025_bib22","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":"Nishigaki","year":"2003","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.gene.2005.03.025_bib23","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":"Nishino","year":"1999","journal-title":"Science"},{"key":"10.1016\/j.gene.2005.03.025_bib24","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1089\/dna.2004.23.797","article-title":"Deoxyribonucleotides and disorders of mitochondrial DNA integrity","volume":"23","author":"Saada","year":"2004","journal-title":"DNA Cell Biol."},{"key":"10.1016\/j.gene.2005.03.025_bib25","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."},{"key":"10.1016\/j.gene.2005.03.025_bib26","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1212\/WNL.41.7.1053","article-title":"Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies","volume":"41","author":"Servidei","year":"1991","journal-title":"Neurology"},{"key":"10.1016\/j.gene.2005.03.025_bib27","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/90058","article-title":"Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria","volume":"28","author":"Spelbrink","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.gene.2005.03.025_bib28","doi-asserted-by":"crossref","first-page":"1244","DOI":"10.1212\/WNL.48.5.1244","article-title":"Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease","volume":"48","author":"Suomalainen","year":"1997","journal-title":"Neurology"},{"key":"10.1016\/j.gene.2005.03.025_bib29","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1038\/nature02517","article-title":"Premature ageing in mice expressing defective mitochondrial DNA polymerase","volume":"429","author":"Trifunovic","year":"2004","journal-title":"Nature"},{"key":"10.1016\/j.gene.2005.03.025_bib30","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1212\/WNL.42.1.209","article-title":"Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA","volume":"42","author":"Tritschler","year":"1992","journal-title":"Neurology"},{"key":"10.1016\/j.gene.2005.03.025_bib31","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1038\/90034","article-title":"Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions","volume":"28","author":"Van Goethem","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.gene.2005.03.025_bib32","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/S0960-8966(02)00216-X","article-title":"POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia","volume":"13","author":"Van Goethem","year":"2003","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.gene.2005.03.025_bib33","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.1212\/01.WNL.0000140494.58732.83","article-title":"POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement","volume":"63","author":"Van Goethem","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.gene.2005.03.025_bib34","doi-asserted-by":"crossref","first-page":"1204","DOI":"10.1212\/01.WNL.0000156516.77696.5A","article-title":"Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations","volume":"64","author":"Winterthun","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.gene.2005.03.025_bib35","doi-asserted-by":"crossref","first-page":"1352","DOI":"10.1016\/0006-291X(89)91818-4","article-title":"Multiple deletions in mitochondrial DNA at direct repeats of non-D-loop regions in cases of familial mitochondrial myopathy","volume":"164","author":"Yuzaki","year":"1989","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.gene.2005.03.025_bib36","doi-asserted-by":"crossref","first-page":"1339","DOI":"10.1212\/WNL.38.8.1339","article-title":"Deletions of mitochondrial DNA in Kearns\u2013Sayre syndrome","volume":"38","author":"Zeviani","year":"1988","journal-title":"Neurology"},{"key":"10.1016\/j.gene.2005.03.025_bib37","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1038\/339309a0","article-title":"An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region","volume":"339","author":"Zeviani","year":"1989","journal-title":"Nature"}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111905001769?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111905001769?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,1,26]],"date-time":"2019-01-26T08:00:10Z","timestamp":1548489610000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111905001769"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,7]]},"references-count":38,"alternative-id":["S0378111905001769"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2005.03.025","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2005,7]]}}}