{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T12:43:04Z","timestamp":1788871384114,"version":"build-2803163510"},"reference-count":43,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2011,11,1]],"date-time":"2011-11-01T00:00:00Z","timestamp":1320105600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,16]],"date-time":"2013-07-16T00:00:00Z","timestamp":1373932800000},"content-version":"vor","delay-in-days":623,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0\/"}],"funder":[{"name":"Telethon-Mitocon Project","award":["GUP09004"],"award-info":[{"award-number":["GUP09004"]}]},{"name":"Ricerca Finalizzata and European Project FP7 LeukoTreat"},{"name":"Finalizzata Ministery of Health"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biochemical and Biophysical Research Communications"],"published-print":{"date-parts":[[2011,11]]},"DOI":"10.1016\/j.bbrc.2011.10.049","type":"journal-article","created":{"date-parts":[[2011,10,20]],"date-time":"2011-10-20T01:54:56Z","timestamp":1319075696000},"page":"300-304","source":"Crossref","is-referenced-by-count":7,"title":["Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy"],"prefix":"10.1016","volume":"415","author":[{"given":"Marzia","family":"Bianchi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Rizza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Verrigni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego","family":"Martinelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Tozzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Torraco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiorella","family":"Piemonte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Dionisi-Vici","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerio","family":"Nobili","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Francalanci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata","family":"Boldrini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Callea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo Maria","family":"Santorelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosalba","family":"Carrozzo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bbrc.2011.10.049_b0005","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1002\/ajmg.1426","article-title":"Epidemiology and treatment of mitochondrial disorders","volume":"106","author":"Chinnery","year":"2001","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.bbrc.2011.10.049_b0220","doi-asserted-by":"crossref","first-page":"1198","DOI":"10.1016\/j.bbabio.2011.06.010","article-title":"Human diseases with impaired mitochondrial protein synthesis","volume":"1807","author":"R\u00f6tig","year":"2011","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbrc.2011.10.049_b0015","doi-asserted-by":"crossref","first-page":"1555","DOI":"10.1002\/hep.21710","article-title":"Mitochondrial hepatopathies: advances in genetics and pathogenesis","volume":"45","author":"Lee","year":"2007","journal-title":"Hepatology"},{"key":"10.1016\/j.bbrc.2011.10.049_b0020","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1016\/j.nmd.2010.03.017","article-title":"Mitochondrial DNA depletion syndromes \u2013 many genes, common mechanisms","volume":"20","author":"Suomalainen","year":"2010","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.bbrc.2011.10.049_b0025","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1097\/00125817-200111000-00004","article-title":"Recognition of mitochondrial DNA deletion syndrome with non-neuromuscular multisystemic manifestation","volume":"3","author":"Wong","year":"2001","journal-title":"Genet. Med."},{"key":"10.1016\/j.bbrc.2011.10.049_b0030","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/j.jhep.2005.05.012","article-title":"Mitochondrial hepatopathies","volume":"43","author":"Chinnery","year":"2005","journal-title":"J. Hepatol."},{"key":"10.1016\/j.bbrc.2011.10.049_b0035","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/S0076-6879(96)64045-2","article-title":"Cytochemistry and immunocytochemistry of mitochondria in tissue sections","volume":"264","author":"Sciacco","year":"1996","journal-title":"Methods Enzymol."},{"key":"10.1016\/j.bbrc.2011.10.049_b0040","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1016\/j.jpeds.2005.10.007","article-title":"Sever liver disease in early childhood due to fibrinogen storage and de novo gamma375Arg\u2192Trp gene mutation","volume":"148","author":"Francalanci","year":"2006","journal-title":"J. Pediatr."},{"key":"10.1016\/j.bbrc.2011.10.049_b0045","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.bbabio.2004.09.006","article-title":"Clinical and molecular findings in children with complex I deficiency","volume":"1659","author":"Bugiani","year":"2004","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbrc.2011.10.049_b0050","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1212\/WNL.50.1.99","article-title":"Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses","volume":"50","author":"Carrozzo","year":"1998","journal-title":"Neurology"},{"key":"10.1016\/j.bbrc.2011.10.049_b0055","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1373\/clinchem.2005.062414","article-title":"Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology","volume":"52","author":"Janssen","year":"2006","journal-title":"Clin. Chem."},{"key":"10.1016\/j.bbrc.2011.10.049_b0060","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1002\/ana.410390615","article-title":"Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patients","volume":"39","author":"Santorelli","year":"1996","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.bbrc.2011.10.049_b0065","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1093\/hmg\/3.1.13","article-title":"Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy","volume":"3","author":"Sciacco","year":"1994","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbrc.2011.10.049_b0070","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/0887-8994(96)00163-4","article-title":"Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death","volume":"15","author":"Santorelli","year":"1996","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.bbrc.2011.10.049_b0075","doi-asserted-by":"crossref","first-page":"e68","DOI":"10.1093\/nar\/gnf067","article-title":"Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR","volume":"30","author":"He","year":"2002","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbrc.2011.10.049_b0080","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1006\/meth.2001.1262","article-title":"Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T))","volume":"25","author":"Livak","year":"2001","journal-title":"Method. Methods"},{"key":"10.1016\/j.bbrc.2011.10.049_b0085","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1086\/342482","article-title":"Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome","volume":"71","author":"Shanske","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbrc.2011.10.049_b0090","doi-asserted-by":"crossref","first-page":"32724","DOI":"10.1074\/jbc.M607135200","article-title":"Bovine complex I is a complex of 45 different subunits","volume":"281","author":"Carroll","year":"2006","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbrc.2011.10.049_b0095","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1016\/j.bbamcr.2008.05.028","article-title":"Assembly of the oxidative phosphorylation system in humans: What we have learned by studying its defects","volume":"1793","author":"Fern\u00e1ndez-Vizarra","year":"2009","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbrc.2011.10.049_b0100","doi-asserted-by":"crossref","first-page":"3043","DOI":"10.1002\/j.1460-2075.1993.tb05973.x","article-title":"Lack of assembly of mitochondrial DNA-encoded subunits of respiratory NADH dehydrogenase and loss of enzyme activity in a human cell mutant lacking the mitochondrial ND4 product","volume":"12","author":"Hofhaus","year":"1993","journal-title":"EMBO J."},{"key":"10.1016\/j.bbrc.2011.10.049_b0105","doi-asserted-by":"crossref","first-page":"4848","DOI":"10.1093\/emboj\/17.16.4848","article-title":"The mtDNA-encoded ND6 subunit of mitochondrial NADH dehydrogenase is essential for the assembly of the membrane arm and the respiratory function of the enzyme","volume":"17","author":"Bai","year":"1998","journal-title":"EMBO J."},{"key":"10.1016\/j.bbrc.2011.10.049_b0110","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1042\/BJ20040256","article-title":"Structural organization of mitochondrial human complex I: role of the ND4 and ND5 mitochondria-encoded subunits and interaction with prohibitin","volume":"383","author":"Bourges","year":"2004","journal-title":"Biochem. J."},{"key":"10.1016\/j.bbrc.2011.10.049_b0115","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1016\/j.ymgme.2007.02.007","article-title":"Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients","volume":"91","author":"Vogel","year":"2007","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.bbrc.2011.10.049_b0120","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1046\/j.1432-1327.2000.00999.x","article-title":"The multiple nicotinamide nucleotide-binding subunits of bovine heart mitochondrial NADH:ubiquinone oxidoreductase (complex I)","volume":"267","author":"Yamaguchi","year":"2000","journal-title":"Eur. J. Biochem."},{"key":"10.1016\/j.bbrc.2011.10.049_b0125","doi-asserted-by":"crossref","first-page":"1676","DOI":"10.1016\/j.bbabio.2006.09.003","article-title":"Tight binding of NADPH to the 39-kDa subunit of complex I is not required for catalytic activity but stabilizes the multiprotein complex","volume":"1757","author":"Abdrakhmanova","year":"2006","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbrc.2011.10.049_b0130","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1016\/j.bbabio.2009.01.012","article-title":"Architecture of complex I and its implications for electron transfer and proton pumping","volume":"1787","author":"Zickermann","year":"2009","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbrc.2011.10.049_b0135","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1016\/j.bbamcr.2008.04.015","article-title":"Assembly of mitochondrial complex I and defects in disease","volume":"1793","author":"Lazarou","year":"2009","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbrc.2011.10.049_b0140","doi-asserted-by":"crossref","first-page":"e15687","DOI":"10.1371\/journal.pone.0015687","article-title":"Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes","volume":"5","author":"Sadikovic","year":"2010","journal-title":"PLoS ONE"},{"key":"10.1016\/j.bbrc.2011.10.049_b0145","doi-asserted-by":"crossref","first-page":"2656","DOI":"10.1056\/NEJMra022567","article-title":"Mitochondrial respiratory-chain diseases","volume":"348","author":"DiMauro","year":"2003","journal-title":"N Eng J Med"},{"key":"10.1016\/j.bbrc.2011.10.049_b0150","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1111\/j.1478-3231.1999.tb00063.x","article-title":"Mitochondrial respiratory chain disorders and the liver","volume":"19","author":"Morris","year":"1999","journal-title":"Liver"},{"key":"10.1016\/j.bbrc.2011.10.049_b0155","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1016\/S0022-3476(97)80027-3","article-title":"Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation","volume":"130","author":"Cormier-Daire","year":"1997","journal-title":"J. Pediatr."},{"key":"10.1016\/j.bbrc.2011.10.049_b0160","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1007\/s00246-003-0446-y","article-title":"A case of sporadic infantile histiocytoid cardiomyopathy caused by the A8344G (MERRF) mitochondrial DNA mutation","volume":"25","author":"Vallance","year":"2004","journal-title":"Pediatr. Cardiol."},{"key":"10.1016\/j.bbrc.2011.10.049_b0165","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1002\/ajmg.10522","article-title":"Familial childhood onset neuropathy and cirrhosis with the 4977bp mitochondrial DNA deletion","volume":"111","author":"McDonald","year":"2002","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.bbrc.2011.10.049_b0170","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1038\/ng1765","article-title":"MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion","volume":"38","author":"Spinazzola","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbrc.2011.10.049_b0175","doi-asserted-by":"crossref","first-page":"1218","DOI":"10.1002\/hep.21799","article-title":"Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy","volume":"46","author":"Wong","year":"2007","journal-title":"Hepatology"},{"key":"10.1016\/j.bbrc.2011.10.049_b0180","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1002\/ana.20079","article-title":"POLG mutations associated with Alpers\u2019 syndrome and mitochondrial DNA depletion","volume":"55","author":"Naviaux","year":"2004","journal-title":"Ann. Neurol."},{"issue":"5","key":"10.1016\/j.bbrc.2011.10.049_b0185","doi-asserted-by":"crossref","first-page":"1601","DOI":"10.1172\/JCI114881","volume":"86","author":"R\u00f6tig","year":"1990","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.bbrc.2011.10.049_b0190","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.bbrc.2011.10.049_b0195","doi-asserted-by":"crossref","first-page":"1293","DOI":"10.1056\/NEJM198905183202001","article-title":"Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns\u2013Sayre syndrome","volume":"32","author":"Moraes","year":"1989","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.bbrc.2011.10.049_b0200","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1203\/00006450-199008000-00011","article-title":"Progressive increase of the mutated mitochondrial DNA fraction in Kearns\u2013Sayre syndrome","volume":"28","author":"Larsson","year":"1990","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.bbrc.2011.10.049_b0205","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/S0022-3476(94)70255-1","article-title":"Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy","volume":"124","author":"Cormier-Daire","year":"1994","journal-title":"J. Pediatr."},{"key":"10.1016\/j.bbrc.2011.10.049_b0210","doi-asserted-by":"crossref","first-page":"1388","DOI":"10.1038\/ki.1994.181","article-title":"Mitochondrial DNA deletion: a cause of chronic tubulointerstitial nephropathy","volume":"45","author":"Szabolcs","year":"1994","journal-title":"Kidney Int."},{"key":"10.1016\/j.bbrc.2011.10.049_b0215","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1016\/S0022-3476(95)70359-4","article-title":"Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis","volume":"126","author":"R\u00f6tig","year":"1995","journal-title":"J. Pediatr."}],"container-title":["Biochemical and Biophysical Research Communications"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0006291X11018468?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0006291X11018468?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,3,12]],"date-time":"2025-03-12T23:08:54Z","timestamp":1741820934000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0006291X11018468"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,11]]},"references-count":43,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2011,11]]}},"alternative-id":["S0006291X11018468"],"URL":"https:\/\/doi.org\/10.1016\/j.bbrc.2011.10.049","relation":{},"ISSN":["0006-291X"],"issn-type":[{"value":"0006-291X","type":"print"}],"subject":[],"published":{"date-parts":[[2011,11]]}}}