{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T04:15:04Z","timestamp":1779250504047,"version":"3.51.4"},"reference-count":33,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2012,4,1]],"date-time":"2012-04-01T00:00:00Z","timestamp":1333238400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,4,1]],"date-time":"2012-04-01T00:00:00Z","timestamp":1333238400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T00:00:00Z","timestamp":1692662400000},"content-version":"vor","delay-in-days":4160,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["neurotherapeuticsjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neurotherapeutics"],"published-print":{"date-parts":[[2012,4]]},"DOI":"10.1007\/s13311-012-0103-3","type":"journal-article","created":{"date-parts":[[2012,2,21]],"date-time":"2012-02-21T11:14:50Z","timestamp":1329822890000},"page":"446-463","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":44,"title":["Recovery of MERRF Fibroblasts and Cybrids Pathophysiology by Coenzyme Q10"],"prefix":"10.1016","volume":"9","author":[{"given":"Mario","family":"De la Mata","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan","family":"Garrido-Maraver","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Cot\u00e1n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario D.","family":"Cordero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuel","family":"Oropesa-\u00c1vila","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lourdes G\u00f3mez","family":"Izquierdo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuel","family":"De Miguel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan Bautista","family":"Lorite","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eloy Rivas","family":"Infante","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"Ybot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Jackson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 A.","family":"S\u00e1nchez-Alc\u00e1zar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1007\/s13311-012-0103-3_bib1","doi-asserted-by":"crossref","first-page":"8739","DOI":"10.1073\/pnas.91.19.8739","article-title":"Mitochondrial DNA sequence variation in human evolution and disease","volume":"91","author":"Wallace","year":"1994","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1007\/s13311-012-0103-3_bib2","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1016\/0092-8674(90)90059-N","article-title":"Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation","volume":"61","author":"Shoffner","year":"1990","journal-title":"Cell"},{"key":"10.1007\/s13311-012-0103-3_bib3","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/j.nmd.2009.01.012","article-title":"Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys","volume":"19","author":"Erol","year":"2009","journal-title":"Neuromuscul Disord"},{"key":"10.1007\/s13311-012-0103-3_bib4","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1016\/0092-8674(88)90218-8","article-title":"Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease","volume":"55","author":"Wallace","year":"1988","journal-title":"Cell"},{"key":"10.1007\/s13311-012-0103-3_bib5","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1016\/0960-8966(95)00009-C","article-title":"The 8,344 mutation in mitochondrial DNA: a comparison between the proportion of mutant DNA and clinico-pathologic findings","volume":"5","author":"Ozawa","year":"1995","journal-title":"Neuromuscul Disord"},{"key":"10.1007\/s13311-012-0103-3_bib6","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1001\/archneurol.2008.576","article-title":"A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features","volume":"66","author":"Blakely","year":"2009","journal-title":"Arch Neurol"},{"key":"10.1007\/s13311-012-0103-3_bib7","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.jns.2009.01.025","article-title":"Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study","volume":"281","author":"Virgilio","year":"2009","journal-title":"J Neurol Sci"},{"issue":"pt 3","key":"10.1007\/s13311-012-0103-3_bib8","first-page":"617","article-title":"The mitochondrial DNA transfer RNA(Lys)A\u2013 > G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibers (MERRF)","volume":"116","author":"Hammans","year":"1993","journal-title":"Relationship of clinical phenotype to proportion of mutant mitochondrial DNA. Brain"},{"key":"10.1007\/s13311-012-0103-3_bib9","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1038\/ng0595-47","article-title":"MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination","volume":"10","author":"Enriquez","year":"1995","journal-title":"Nat Genet"},{"key":"10.1007\/s13311-012-0103-3_bib10","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/S0014-5793(00)01145-5","article-title":"Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNA(Lys) with the MERRF encephalomyopathy pathogenic mutation","volume":"467","author":"Yasukawa","year":"2000","journal-title":"FEBS Lett"},{"key":"10.1007\/s13311-012-0103-3_bib11","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1046\/j.1432-1327.1999.00066.x","article-title":"Decreased ATP synthesis is phenotypically expressed during increased energy demand in fibroblasts containing mitochondrial tRNA mutations","volume":"259","author":"James","year":"1999","journal-title":"Eur J Biochem"},{"issue":"pt 2","key":"10.1007\/s13311-012-0103-3_bib12","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1042\/bj3180401","article-title":"Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations","volume":"318","author":"James","year":"1996","journal-title":"Biochem J"},{"key":"10.1007\/s13311-012-0103-3_bib13","first-page":"2236","article-title":"In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria","volume":"11","author":"Chomyn","year":"1991","journal-title":"Mol Cell Biol"},{"key":"10.1007\/s13311-012-0103-3_bib14","first-page":"1187","article-title":"Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)","volume":"51","author":"Boulet","year":"1992","journal-title":"Am J Hum Genet"},{"key":"10.1007\/s13311-012-0103-3_bib15","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1007\/s12035-010-8123-7","article-title":"Mitochondrial DNA mutation-elicited oxidative stress, oxidative damage, and altered gene expression in cultured cells of patients with MERRF syndrome","volume":"41","author":"Wu","year":"2010","journal-title":"Mol Neurobiol"},{"key":"10.1007\/s13311-012-0103-3_bib16","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1086\/500092","article-title":"A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency","volume":"78","author":"Quinzii","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1007\/s13311-012-0103-3_bib17","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1126\/science.2814477","article-title":"Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation","volume":"246","author":"King","year":"1989","journal-title":"Sci Dig (NY)"},{"key":"10.1007\/s13311-012-0103-3_bib18","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/0009-8981(94)90055-8","article-title":"Biochemical and molecular investigations in respiratory chain deficiencies","volume":"228","author":"Rustin","year":"1994","journal-title":"Clin Chim Acta"},{"key":"10.1007\/s13311-012-0103-3_bib19","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/S0021-9258(19)52451-6","article-title":"Protein measurement with the Folin phenol reagent","volume":"193","author":"Lowry","year":"1951","journal-title":"J Biol Chem"},{"key":"10.1007\/s13311-012-0103-3_bib20","doi-asserted-by":"crossref","first-page":"19","DOI":"10.4161\/auto.5.1.7174","article-title":"Coenzyme Q deficiency triggers mitochondria degradation by mitophagy","volume":"5","author":"Rodriguez-Hernandez","year":"2009","journal-title":"Autophagy"},{"key":"10.1007\/s13311-012-0103-3_bib21","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1111\/j.1474-9726.2006.00199.x","article-title":"Senescence-associated beta-galactosidase is lysosomal beta-galactosidase","volume":"5","author":"Lee","year":"2006","journal-title":"Aging Cell"},{"key":"10.1007\/s13311-012-0103-3_bib22","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.nmd.2009.10.014","article-title":"Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy","volume":"20","author":"Sacconi","year":"2010","journal-title":"Neuromuscul Disord"},{"key":"10.1007\/s13311-012-0103-3_bib23","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1016\/S0092-8674(00)80450-X","article-title":"Bcl-xL regulates the membrane potential and volume homeostasis of mitochondria","volume":"91","author":"Vander Heiden","year":"1997","journal-title":"Cell"},{"key":"10.1007\/s13311-012-0103-3_bib24","doi-asserted-by":"crossref","first-page":"1749","DOI":"10.1038\/sj.emboj.7601623","article-title":"Reactive oxygen species are essential for autophagy and specifically regulate the activity of Atg4","volume":"26","author":"Scherz-Shouval","year":"2007","journal-title":"EMBO J"},{"key":"10.1007\/s13311-012-0103-3_bib25","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1002\/biof.5520320113","article-title":"Human CoQ10 deficiencies","volume":"32","author":"Quinzii","year":"2008","journal-title":"BioFactors (Oxford, England)"},{"key":"10.1007\/s13311-012-0103-3_bib26","doi-asserted-by":"crossref","first-page":"R17","DOI":"10.1186\/ar2918","article-title":"Mitochondrial dysfunction and mitophagy activation in blood mononuclear cells of fibromyalgia patients: implications in the pathogenesis of the disease","volume":"12","author":"Cordero","year":"2010","journal-title":"Arthritis Res Ther"},{"key":"10.1007\/s13311-012-0103-3_bib27","first-page":"71","article-title":"Coenzyme q10: is there a clinical role and a case for measurement?","volume":"29","author":"Molyneux","year":"2008","journal-title":"Clin Biochem Rev"},{"key":"10.1007\/s13311-012-0103-3_bib28","doi-asserted-by":"crossref","first-page":"49079","DOI":"10.1074\/jbc.M307841200","article-title":"The coenzyme Q10 analog decylubiquinone inhibits the redox-activated mitochondrial permeability transition: role of mitcohondrial [correction mitochondrial] complex III","volume":"278","author":"Armstrong","year":"2003","journal-title":"J Biol Chem"},{"key":"10.1007\/s13311-012-0103-3_bib29","doi-asserted-by":"crossref","first-page":"2669","DOI":"10.1096\/fj.10-165340","article-title":"Secondary coenzyme Q10 deficiency triggers mitochondria degradation by mitophagy in MELAS fibroblasts","volume":"25","author":"Cotan","year":"2011","journal-title":"FASEB J"},{"key":"10.1007\/s13311-012-0103-3_bib30","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.abb.2007.03.034","article-title":"Selective degradation of mitochondria by mitophagy","volume":"462","author":"Kim","year":"2007","journal-title":"Archives of biochemistry and biophysics"},{"key":"10.1007\/s13311-012-0103-3_bib31","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1007\/s10863-005-6565-9","article-title":"Genetic dissection of the permeability transition pore","volume":"37","author":"Forte","year":"2005","journal-title":"J Bioenerg Biomembr"},{"key":"10.1007\/s13311-012-0103-3_bib32","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/0304-4157(95)00003-A","article-title":"The mitochondrial permeability transition","volume":"1241","author":"Zoratti","year":"1995","journal-title":"Biochim Biophys Acta"},{"key":"10.1007\/s13311-012-0103-3_bib33","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1038\/ncb2012","article-title":"PINK1\/Parkin-mediated mitophagy is dependent on VDAC1 and p62\/SQSTM1","volume":"12","author":"Geisler","year":"2010","journal-title":"Nat Cell Biol"}],"container-title":["Neurotherapeutics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s13311-012-0103-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s13311-012-0103-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1878747923017579?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1878747923017579?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s13311-012-0103-3","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T07:11:06Z","timestamp":1761808266000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1878747923017579"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,4]]},"references-count":33,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2012,4]]}},"alternative-id":["S1878747923017579"],"URL":"https:\/\/doi.org\/10.1007\/s13311-012-0103-3","relation":{},"ISSN":["1878-7479"],"issn-type":[{"value":"1878-7479","type":"print"}],"subject":[],"published":{"date-parts":[[2012,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Recovery of MERRF Fibroblasts and Cybrids Pathophysiology by Coenzyme Q10","name":"articletitle","label":"Article Title"},{"value":"Neurotherapeutics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1007\/s13311-012-0103-3","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2012 The American Society for Experimental NeuroTherapeutics, Inc. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}