{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T08:04:08Z","timestamp":1790409848410,"version":"4.1.0"},"reference-count":61,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,7,1]],"date-time":"2018-07-01T00:00:00Z","timestamp":1530403200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,7,1]],"date-time":"2018-07-01T00:00:00Z","timestamp":1530403200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2018,5,4]],"date-time":"2018-05-04T00:00:00Z","timestamp":1525392000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100006691","name":"Harvard Medical School","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010665","name":"H2020 Marie Sk\u0142odowska-Curie Actions","doi-asserted-by":"publisher","award":["676144"],"award-info":[{"award-number":["676144"]}],"id":[{"id":"10.13039\/100010665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Metabolism"],"published-print":{"date-parts":[[2018,7]]},"DOI":"10.1016\/j.molmet.2018.05.002","type":"journal-article","created":{"date-parts":[[2018,5,8]],"date-time":"2018-05-08T02:48:45Z","timestamp":1525747725000},"page":"10-23","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":42,"special_numbering":"C","title":["A disease-associated Aifm1 variant induces severe myopathy in knockin mice"],"prefix":"10.1016","volume":"13","author":[{"given":"Lena","family":"Wischhof","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Gioran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dagmar","family":"Sonntag-Bensch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonia","family":"Piazzesi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Stork","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierluigi","family":"Nicotera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniele","family":"Bano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"6718","key":"10.1016\/j.molmet.2018.05.002_bib1","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1038\/17135","article-title":"Molecular characterization of mitochondrial apoptosis-inducing factor","volume":"397","author":"Susin","year":"1999","journal-title":"Nature"},{"issue":"5579","key":"10.1016\/j.molmet.2018.05.002_bib2","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1126\/science.1072221","article-title":"Mediation of poly(ADP-ribose) polymerase-1-dependent cell death by apoptosis-inducing factor","volume":"297","author":"Yu","year":"2002","journal-title":"Science"},{"issue":"5","key":"10.1016\/j.molmet.2018.05.002_bib3","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1096\/fasebj.14.5.729","article-title":"Mitochondrio-nuclear translocation of AIF in apoptosis and necrosis","volume":"14","author":"Daugas","year":"2000","journal-title":"The FASEB Journal"},{"issue":"12","key":"10.1016\/j.molmet.2018.05.002_bib4","doi-asserted-by":"crossref","first-page":"2545","DOI":"10.1089\/ars.2010.3445","article-title":"Apoptosis-inducing factor: structure, function, and redox regulation","volume":"14","author":"Sevrioukova","year":"2011","journal-title":"Antioxidants and Redox Signaling"},{"issue":"5","key":"10.1016\/j.molmet.2018.05.002_bib5","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1016\/j.tibs.2009.12.008","article-title":"Life with or without AIF","volume":"35","author":"Hangen","year":"2010","journal-title":"Trends in Biochemical Sciences"},{"key":"10.1016\/j.molmet.2018.05.002_bib6","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.ebiom.2018.03.016","article-title":"Apoptosis-inducing factor (AIF) in physiology and disease: the tale of a repented natural born killer","volume":"30","author":"Bano","year":"2018","journal-title":"EBioMedicine"},{"issue":"23","key":"10.1016\/j.molmet.2018.05.002_bib7","doi-asserted-by":"crossref","first-page":"4679","DOI":"10.1038\/sj.emboj.7600461","article-title":"AIF deficiency compromises oxidative phosphorylation","volume":"23","author":"Vahsen","year":"2004","journal-title":"The EMBO Journal"},{"issue":"5","key":"10.1016\/j.molmet.2018.05.002_bib8","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1016\/j.jmb.2009.05.013","article-title":"Redox-linked conformational dynamics in apoptosis-inducing factor","volume":"390","author":"Sevrioukova","year":"2009","journal-title":"Journal of Molecular Biology"},{"issue":"6905","key":"10.1016\/j.molmet.2018.05.002_bib9","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1038\/nature01034","article-title":"The harlequin mouse mutation downregulates apoptosis-inducing factor","volume":"419","author":"Klein","year":"2002","journal-title":"Nature"},{"key":"10.1016\/j.molmet.2018.05.002_bib10","doi-asserted-by":"crossref","first-page":"e1814","DOI":"10.1038\/cddis.2015.170","article-title":"Loss of apoptosis-inducing factor critically affects MIA40 function","volume":"6","author":"Meyer","year":"2015","journal-title":"Cell Death & Disease"},{"issue":"6","key":"10.1016\/j.molmet.2018.05.002_bib11","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1016\/j.molcel.2015.04.020","article-title":"Interaction between AIF and CHCHD4 regulates respiratory chain biogenesis","volume":"58","author":"Hangen","year":"2015","journal-title":"Molecular Cell"},{"issue":"9","key":"10.1016\/j.molmet.2018.05.002_bib12","doi-asserted-by":"crossref","first-page":"5685","DOI":"10.1074\/jbc.M114.597245","article-title":"Mechanism-based proteomic screening identifies targets of thioredoxin-like proteins","volume":"290","author":"Nakao","year":"2015","journal-title":"Journal of Biological Chemistry"},{"issue":"11","key":"10.1016\/j.molmet.2018.05.002_bib13","doi-asserted-by":"crossref","first-page":"1563","DOI":"10.15252\/embr.201540536","article-title":"AIF inhibits tumor metastasis by protecting PTEN from oxidation","volume":"16","author":"Shen","year":"2015","journal-title":"EMBO Reports"},{"issue":"8","key":"10.1016\/j.molmet.2018.05.002_bib14","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1038\/nrneurol.2013.126","article-title":"The clinical maze of mitochondrial neurology","volume":"9","author":"DiMauro","year":"2013","journal-title":"Nature Reviews Neurology"},{"key":"10.1016\/j.molmet.2018.05.002_bib15","doi-asserted-by":"crossref","DOI":"10.1038\/emboj.2012.300","article-title":"OXPHOS mutations and neurodegeneration","author":"Koopman","year":"2012","journal-title":"The EMBO Journal"},{"issue":"4","key":"10.1016\/j.molmet.2018.05.002_bib16","doi-asserted-by":"crossref","first-page":"311","DOI":"10.15252\/emmm.201506131","article-title":"Mitochondrial disorders in children: toward development of small-molecule treatment strategies","volume":"8","author":"Koopman","year":"2016","journal-title":"EMBO Molecular Medicine"},{"key":"10.1016\/j.molmet.2018.05.002_bib17","doi-asserted-by":"crossref","first-page":"16080","DOI":"10.1038\/nrdp.2016.80","article-title":"Mitochondrial diseases","volume":"2","author":"Gorman","year":"2016","journal-title":"Nature Reviews Disease Primers"},{"issue":"4","key":"10.1016\/j.molmet.2018.05.002_bib18","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1016\/j.ajhg.2010.03.002","article-title":"Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor","volume":"86","author":"Ghezzi","year":"2010","journal-title":"The American Journal of Human Genetics"},{"key":"10.1016\/j.molmet.2018.05.002_bib19","doi-asserted-by":"crossref","DOI":"10.1016\/j.jmb.2016.05.004","article-title":"Structure\/function relations in AIFM1 variants associated with neurodegenerative disorders","author":"Sevrioukova","year":"2016","journal-title":"Journal of Molecular Biology"},{"issue":"6","key":"10.1016\/j.molmet.2018.05.002_bib20","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1016\/j.ajhg.2012.10.008","article-title":"Cowchock syndrome is associated with a mutation in apoptosis-inducing factor","volume":"91","author":"Rinaldi","year":"2012","journal-title":"The American Journal of Human Genetics"},{"issue":"21","key":"10.1016\/j.molmet.2018.05.002_bib21","doi-asserted-by":"crossref","first-page":"2193","DOI":"10.1212\/WNL.0000000000001613","article-title":"A\u00a0slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders","volume":"84","author":"Ardissone","year":"2015","journal-title":"Neurology"},{"issue":"4","key":"10.1016\/j.molmet.2018.05.002_bib22","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1016\/j.ymgme.2011.09.020","article-title":"Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing","volume":"104","author":"Berger","year":"2011","journal-title":"Molecular Genetics and Metabolism"},{"issue":"8","key":"10.1016\/j.molmet.2018.05.002_bib23","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1136\/jmedgenet-2014-102961","article-title":"Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder","volume":"52","author":"Zong","year":"2015","journal-title":"Journal of Medical Genetics"},{"key":"10.1016\/j.molmet.2018.05.002_bib24","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.mito.2015.01.001","article-title":"From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1","volume":"21C","author":"Kettwig","year":"2015","journal-title":"Mitochondrion"},{"issue":"3","key":"10.1016\/j.molmet.2018.05.002_bib25","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1038\/ejhg.2015.141","article-title":"A\u00a0novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease","volume":"24","author":"Diodato","year":"2016","journal-title":"European Journal of Human Genetics"},{"key":"10.1016\/j.molmet.2018.05.002_bib26","article-title":"Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease","author":"Mierzewska","year":"2016","journal-title":"Clinical Genetics"},{"issue":"2","key":"10.1016\/j.molmet.2018.05.002_bib27","article-title":"AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant","volume":"3","author":"Morton","year":"2017","journal-title":"Cold Spring Harbor Molecular Case Studies"},{"key":"10.1016\/j.molmet.2018.05.002_bib28","doi-asserted-by":"crossref","DOI":"10.1007\/s10048-017-0520-x","article-title":"X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1","author":"Miyake","year":"2017","journal-title":"Neurogenetics"},{"key":"10.1016\/j.molmet.2018.05.002_bib29","doi-asserted-by":"crossref","DOI":"10.1111\/ene.13452","article-title":"A\u00a0novel missense mutation in AIFM1 results in axonal polyneuropathy and misassembly of OXPHOS complexes","author":"Hu","year":"2017","journal-title":"European Journal of Neurology - The Official Journal of the European Federation of Neurological Societies"},{"issue":"6828","key":"10.1016\/j.molmet.2018.05.002_bib30","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1038\/35069004","article-title":"Essential role of the mitochondrial apoptosis-inducing factor in programmed cell death","volume":"410","author":"Joza","year":"2001","journal-title":"Nature"},{"issue":"9","key":"10.1016\/j.molmet.2018.05.002_bib31","doi-asserted-by":"crossref","first-page":"e3208","DOI":"10.1371\/journal.pone.0003208","article-title":"The variability of the harlequin mouse phenotype resembles that of human mitochondrial-complex I-deficiency syndromes","volume":"3","author":"Benit","year":"2008","journal-title":"PLoS One"},{"issue":"3","key":"10.1016\/j.molmet.2018.05.002_bib32","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1016\/j.cell.2007.08.047","article-title":"Targeted deletion of AIF decreases mitochondrial oxidative phosphorylation and protects from obesity and diabetes","volume":"131","author":"Pospisilik","year":"2007","journal-title":"Cell"},{"issue":"23","key":"10.1016\/j.molmet.2018.05.002_bib33","doi-asserted-by":"crossref","first-page":"10261","DOI":"10.1128\/MCB.25.23.10261-10272.2005","article-title":"Muscle-specific loss of apoptosis-inducing factor leads to mitochondrial dysfunction, skeletal muscle atrophy, and dilated cardiomyopathy","volume":"25","author":"Joza","year":"2005","journal-title":"Molecular and Cellular Biology"},{"issue":"9","key":"10.1016\/j.molmet.2018.05.002_bib34","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1097\/NEN.0b013e318148b822","article-title":"Apoptosis-inducing factor deficiency induces early mitochondrial degeneration in brain followed by progressive multifocal neuropathology","volume":"66","author":"El Ghouzzi","year":"2007","journal-title":"Journal of Neuropathology & Experimental Neurology"},{"issue":"6","key":"10.1016\/j.molmet.2018.05.002_bib35","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1016\/j.bbabio.2011.08.010","article-title":"Understanding mitochondrial complex I assembly in health and disease","volume":"1817","author":"Mimaki","year":"2012","journal-title":"Biochimica et Biophysica Acta"},{"issue":"5","key":"10.1016\/j.molmet.2018.05.002_bib36","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1016\/j.neuint.2012.12.002","article-title":"AIF, reactive oxygen species, and neurodegeneration: a \u201ccomplex\u201d problem","volume":"62","author":"Polster","year":"2013","journal-title":"Neurochemistry International"},{"issue":"6165","key":"10.1016\/j.molmet.2018.05.002_bib37","doi-asserted-by":"crossref","first-page":"1524","DOI":"10.1126\/science.1244360","article-title":"mTOR inhibition alleviates mitochondrial disease in a mouse model of Leigh syndrome","volume":"342","author":"Johnson","year":"2013","journal-title":"Science"},{"issue":"4","key":"10.1016\/j.molmet.2018.05.002_bib38","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1016\/j.cmet.2016.01.019","article-title":"Mitochondrial DNA replication defects disturb cellular dNTP pools and remodel one-carbon metabolism","volume":"23","author":"Nikkanen","year":"2016","journal-title":"Cell Metabolism"},{"issue":"2","key":"10.1016\/j.molmet.2018.05.002_bib39","doi-asserted-by":"crossref","DOI":"10.1016\/j.cmet.2017.07.007","article-title":"mTORC1 regulates mitochondrial integrated stress response and mitochondrial myopathy progression","volume":"26","author":"Khan","year":"2017","journal-title":"Cell Metabolism"},{"issue":"1","key":"10.1016\/j.molmet.2018.05.002_bib40","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1038\/cdd.2009.112","article-title":"Alteration of the nuclear pore complex in Ca(2+)-mediated cell death","volume":"17","author":"Bano","year":"2010","journal-title":"Cell Death and Differentiation"},{"issue":"1","key":"10.1016\/j.molmet.2018.05.002_bib41","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1038\/emboj.2010.279","article-title":"Ryanodine receptor-2 upregulation and nicotine-mediated plasticity","volume":"30","author":"Ziviani","year":"2011","journal-title":"The EMBO Journal"},{"key":"10.1016\/j.molmet.2018.05.002_bib42","first-page":"509","article-title":"Cytochemistry and immunocytochemistry of mitochondria in tissue sections","volume":"264","author":"Sciacco","year":"1996","journal-title":"Methods\u00a0in\u00a0Enzymology"},{"issue":"1","key":"10.1016\/j.molmet.2018.05.002_bib43","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.cmet.2016.08.009","article-title":"One-carbon metabolism in health and disease","volume":"25","author":"Ducker","year":"2017","journal-title":"Cell Metabolism"},{"issue":"2","key":"10.1016\/j.molmet.2018.05.002_bib44","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1038\/ncb2901","article-title":"Enhancing nucleotide metabolism protects against mitochondrial dysfunction and neurodegeneration in a PINK1 model of Parkinson's disease","volume":"16","author":"Tufi","year":"2014","journal-title":"Nature Cell Biology"},{"issue":"9","key":"10.1016\/j.molmet.2018.05.002_bib45","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1016\/S1474-4422(11)70155-7","article-title":"FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study","volume":"10","author":"Suomalainen","year":"2011","journal-title":"The Lancet Neurology"},{"issue":"20","key":"10.1016\/j.molmet.2018.05.002_bib46","doi-asserted-by":"crossref","first-page":"3948","DOI":"10.1093\/hmg\/ddq310","article-title":"Mitochondrial myopathy induces a starvation-like response","volume":"19","author":"Tyynismaa","year":"2010","journal-title":"Human Molecular Genetics"},{"issue":"6274","key":"10.1016\/j.molmet.2018.05.002_bib47","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1126\/science.aad0489","article-title":"mTORC1 induces purine synthesis through control of the mitochondrial tetrahydrofolate cycle","volume":"351","author":"Ben-Sahra","year":"2016","journal-title":"Science"},{"issue":"1","key":"10.1016\/j.molmet.2018.05.002_bib48","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1042\/BJ20111748","article-title":"Activating transcription factor 4-dependent induction of FGF21 during amino acid deprivation","volume":"443","author":"De Sousa-Coelho","year":"2012","journal-title":"Biochemical Journal"},{"key":"10.1016\/j.molmet.2018.05.002_bib49","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.10575","article-title":"Mitochondrial dysfunction remodels one-carbon metabolism in human cells","volume":"5","author":"Bao","year":"2016","journal-title":"Elife"},{"issue":"7","key":"10.1016\/j.molmet.2018.05.002_bib50","doi-asserted-by":"crossref","first-page":"2027","DOI":"10.1083\/jcb.201702058","article-title":"Multi-omics analysis identifies ATF4 as a key regulator of the mitochondrial stress response in mammals","volume":"216","author":"Quiros","year":"2017","journal-title":"The Journal of Cell Biology"},{"issue":"5","key":"10.1016\/j.molmet.2018.05.002_bib51","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1038\/ncb2738","article-title":"ER-stress-induced transcriptional regulation increases protein synthesis leading to cell death","volume":"15","author":"Han","year":"2013","journal-title":"Nature Cell Biology"},{"issue":"12","key":"10.1016\/j.molmet.2018.05.002_bib52","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1038\/ng.3421","article-title":"NRF2 regulates serine biosynthesis in non-small cell lung cancer","volume":"47","author":"DeNicola","year":"2015","journal-title":"Nature Genetics"},{"issue":"34","key":"10.1016\/j.molmet.2018.05.002_bib53","doi-asserted-by":"crossref","first-page":"30409","DOI":"10.1074\/jbc.R200006200","article-title":"The key role of anaplerosis and cataplerosis for citric acid cycle function","volume":"277","author":"Owen","year":"2002","journal-title":"Journal of Biological Chemistry"},{"issue":"4","key":"10.1016\/j.molmet.2018.05.002_bib54","doi-asserted-by":"crossref","first-page":"1314","DOI":"10.1096\/fj.14-261503","article-title":"Muscle mitohormesis promotes cellular survival via serine\/glycine pathway flux","volume":"29","author":"Ost","year":"2015","journal-title":"The FASEB Journal"},{"issue":"3","key":"10.1016\/j.molmet.2018.05.002_bib55","doi-asserted-by":"crossref","first-page":"275","DOI":"10.15252\/emmm.201404916","article-title":"Inhibition of insulin\/IGF-1 receptor signaling protects from mitochondria-mediated kidney failure","volume":"7","author":"Ising","year":"2015","journal-title":"EMBO Molecular Medicine"},{"key":"10.1016\/j.molmet.2018.05.002_bib56","doi-asserted-by":"crossref","DOI":"10.1093\/hmg\/ddx341","article-title":"Low-dose rapamycin extends lifespan in a mouse model of mtDNA depletion syndrome","author":"Siegmund","year":"2017","journal-title":"Human Molecular Genetics"},{"key":"10.1016\/j.molmet.2018.05.002_bib57","doi-asserted-by":"crossref","DOI":"10.1007\/s10048-017-0524-6","article-title":"A\u00a0newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation","author":"Sancho","year":"2017","journal-title":"Neurogenetics"},{"key":"10.1016\/j.molmet.2018.05.002_bib58","doi-asserted-by":"crossref","DOI":"10.1038\/nature25460","article-title":"Mitochondrial translation requires folate-dependent tRNA methylation","author":"Morscher","year":"2018","journal-title":"Nature"},{"issue":"12","key":"10.1016\/j.molmet.2018.05.002_bib59","doi-asserted-by":"crossref","first-page":"1503","DOI":"10.15252\/emmm.201505079","article-title":"Mitochondrial disease in adults: what's old and what's new?","volume":"7","author":"Chinnery","year":"2015","journal-title":"EMBO Molecular Medicine"},{"key":"10.1016\/j.molmet.2018.05.002_bib60","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.mito.2015.01.009","article-title":"Mitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors","volume":"21","author":"Torraco","year":"2015","journal-title":"Mitochondrion"},{"key":"10.1016\/j.molmet.2018.05.002_bib61","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1016\/j.mito.2015.01.008","article-title":"Mitochondrial diseases part II: mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function","volume":"22","author":"Iommarini","year":"2015","journal-title":"Mitochondrion"}],"container-title":["Molecular Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2212877818302485?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2212877818302485?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:16:56Z","timestamp":1761956216000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2212877818302485"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7]]},"references-count":61,"alternative-id":["S2212877818302485"],"URL":"https:\/\/doi.org\/10.1016\/j.molmet.2018.05.002","relation":{},"ISSN":["2212-8778"],"issn-type":[{"value":"2212-8778","type":"print"}],"subject":[],"published":{"date-parts":[[2018,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A disease-associated Aifm1 variant induces severe myopathy in knockin mice","name":"articletitle","label":"Article Title"},{"value":"Molecular Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.molmet.2018.05.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 The Authors. Published by Elsevier GmbH.","name":"copyright","label":"Copyright"}]}}