{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T15:06:44Z","timestamp":1778684804810,"version":"3.51.4"},"reference-count":48,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2018,10,10]],"date-time":"2018-10-10T00:00:00Z","timestamp":1539129600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2018,10,10]],"date-time":"2018-10-10T00:00:00Z","timestamp":1539129600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["RF-2011-02351165"],"award-info":[{"award-number":["RF-2011-02351165"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004008","name":"Istituto Superiore di Sanit\u00e0","doi-asserted-by":"publisher","award":["E-Rare-2 JTC 2011 EuroSCAR"],"award-info":[{"award-number":["E-Rare-2 JTC 2011 EuroSCAR"]}],"id":[{"id":"10.13039\/501100004008","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GGP09301"],"award-info":[{"award-number":["GGP09301"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2018,12]]},"DOI":"10.1002\/humu.23658","type":"journal-article","created":{"date-parts":[[2018,9,25]],"date-time":"2018-09-25T15:56:21Z","timestamp":1537890981000},"page":"2060-2071","source":"Crossref","is-referenced-by-count":42,"title":["Concurrent <i>AFG3L2<\/i>\n and <i>SPG7<\/i>\n mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation"],"prefix":"10.1155","volume":"39","author":[{"given":"Stefania","family":"Magri","sequence":"first","affiliation":[{"name":"Unit of Medical Genetics and Neurogenetics; Fondazione IRCCS Istituto Neurologico Carlo Besta; Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentina","family":"Fracasso","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics and Neurogenetics; Fondazione IRCCS Istituto Neurologico Carlo Besta; Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massimo","family":"Plumari","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics and Neurogenetics; Fondazione IRCCS Istituto Neurologico Carlo Besta; Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrico","family":"Alfei","sequence":"additional","affiliation":[{"name":"Unit of Developmental Neurology; Fondazione IRCCS Istituto Neurologico Carlo Besta; Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniele","family":"Ghezzi","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics and Neurogenetics; Fondazione IRCCS Istituto Neurologico Carlo Besta; Milan Italy"},{"name":"Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti; Universit\u00e0 degli Studi di Milano; Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cinzia","family":"Gellera","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics and Neurogenetics; Fondazione IRCCS Istituto Neurologico Carlo Besta; Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Rusmini","sequence":"additional","affiliation":[{"name":"Dipartimento di Scienze Farmacologiche e Biomolecolari (DiSFeB); Centro di Eccellenza sulle Malattie Neurodegenerative; Universit\u00e0 degli Studi di Milano; Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelo","family":"Poletti","sequence":"additional","affiliation":[{"name":"Dipartimento di Scienze Farmacologiche e Biomolecolari (DiSFeB); Centro di Eccellenza sulle Malattie Neurodegenerative; Universit\u00e0 degli Studi di Milano; Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Di Bella","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics and Neurogenetics; Fondazione IRCCS Istituto Neurologico Carlo Besta; Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio E.","family":"Elia","sequence":"additional","affiliation":[{"name":"Unit of Neurology 1; Fondazione IRCCS Istituto Neurologico Carlo Besta; Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Pantaleoni","sequence":"additional","affiliation":[{"name":"Unit of Developmental Neurology; Fondazione IRCCS Istituto Neurologico Carlo Besta; Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2420-5233","authenticated-orcid":false,"given":"Franco","family":"Taroni","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics and Neurogenetics; Fondazione IRCCS Istituto Neurologico Carlo Besta; Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,10,10]]},"reference":[{"issue":"5","key":"10.1002\/humu.23658-BIB0001|humu23658-cit-0001","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1016\/j.molcel.2009.07.018","article-title":"An intersubunit signaling network coordinates ATP hydrolysis by m-AAA proteases","volume":"35","author":"Augustin","year":"2009","journal-title":"Molecular Cell"},{"issue":"6","key":"10.1002\/humu.23658-BIB0002|humu23658-cit-0002","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1002\/embj.201386474","article-title":"Stress-induced OMA1 activation and autocatalytic turnover regulate OPA1-dependent mitochondrial dynamics","volume":"33","author":"Baker","year":"2014","journal-title":"The EMBO Journal"},{"issue":"19","key":"10.1002\/humu.23658-BIB0003|humu23658-cit-0003","doi-asserted-by":"crossref","first-page":"13259","DOI":"10.1074\/jbc.M113.542910","article-title":"Stress-triggered activation of the metalloprotease Oma1 involves its C-terminal region and is important for mitochondrial stress protection in yeast","volume":"289","author":"Bohovych","year":"2014","journal-title":"Journal of Biological Chemistry"},{"issue":"13","key":"10.1002\/humu.23658-BIB0004|humu23658-cit-0004","doi-asserted-by":"crossref","first-page":"2545","DOI":"10.1038\/emboj.2011.169","article-title":"Presequence-dependent folding ensures MrpL32 processing by the m-AAA protease in mitochondria","volume":"30","author":"Bonn","year":"2011","journal-title":"The EMBO Journal"},{"issue":"Pt 1","key":"10.1002\/humu.23658-BIB0005|humu23658-cit-0005","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1093\/brain\/awh651","article-title":"SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2","volume":"129","author":"Cagnoli","year":"2006","journal-title":"Brain"},{"issue":"10","key":"10.1002\/humu.23658-BIB0006|humu23658-cit-0006","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1002\/humu.21342","article-title":"Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias","volume":"31","author":"Cagnoli","year":"2010","journal-title":"Human Mutation"},{"issue":"1","key":"10.1002\/humu.23658-BIB0007|humu23658-cit-0007","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1002\/ana.24410","article-title":"Syndromic parkinsonism and dementia associated with OPA1 missense mutations","volume":"78","author":"Carelli","year":"2015","journal-title":"Annals of Neurology"},{"issue":"6","key":"10.1002\/humu.23658-BIB0008|humu23658-cit-0008","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1016\/S0092-8674(00)81203-9","article-title":"Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease","volume":"93","author":"Casari","year":"1998","journal-title":"Cell"},{"key":"10.1002\/humu.23658-BIB0009|humu23658-cit-0009","doi-asserted-by":"crossref","first-page":"311","DOI":"10.3389\/fgene.2015.00311","article-title":"A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability","volume":"6","author":"Charif","year":"2015","journal-title":"Frontiers in Genetics"},{"issue":"5","key":"10.1002\/humu.23658-BIB0010|humu23658-cit-0010","doi-asserted-by":"crossref","first-page":"451","DOI":"10.3892\/br.2017.987","article-title":"Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene","volume":"7","author":"Colavito","year":"2017","journal-title":"Biomedical Reports"},{"issue":"7","key":"10.1002\/humu.23658-BIB0011|humu23658-cit-0011","doi-asserted-by":"crossref","DOI":"10.1242\/jcs.213546","article-title":"m-AAA and i-AAA complexes coordinate to regulate OMA1, the stress-activated supervisor of mitochondrial dynamics","volume":"131","author":"Consolato","year":"2018","journal-title":"Journal of Cell Science"},{"issue":"6","key":"10.1002\/humu.23658-BIB0012|humu23658-cit-0012","first-page":"1325","article-title":"Characteristics of polymorphism at a VNTR locus 3\u2019 to the apolipoprotein B gene in five human populations","volume":"51","author":"Deka","year":"1992","journal-title":"American Journal of Human Genetics"},{"issue":"12","key":"10.1002\/humu.23658-BIB0013|humu23658-cit-0013","doi-asserted-by":"crossref","first-page":"2557","DOI":"10.1016\/j.celrep.2017.05.073","article-title":"OPA1 isoforms in the hierarchical organization of mitochondrial functions","volume":"19","author":"Del Dotto","year":"2017","journal-title":"Cell Reports"},{"issue":"4","key":"10.1002\/humu.23658-BIB0014|humu23658-cit-0014","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1038\/ng.544","article-title":"Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28","volume":"42","author":"Di Bella","year":"2010","journal-title":"Nature Genetics"},{"issue":"7","key":"10.1002\/humu.23658-BIB0015|humu23658-cit-0015","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1083\/jcb.200906084","article-title":"Regulation of OPA1 processing and mitochondrial fusion by m-AAA protease isoenzymes and OMA1","volume":"187","author":"Ehses","year":"2009","journal-title":"Journal of Cell Biology"},{"issue":"5","key":"10.1002\/humu.23658-BIB0016|humu23658-cit-0016","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1016\/S0022-2836(02)01000-8","article-title":"A novel two-step mechanism for removal of a mitochondrial signal sequence involves the mAAA complex and the putative rhomboid protease Pcp1","volume":"323","author":"Esser","year":"2002","journal-title":"Journal of Molecular Biology"},{"issue":"11","key":"10.1002\/humu.23658-BIB0017|humu23658-cit-0017","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1016\/0888-7543(91)90080-X","article-title":"Isolation, localization, and physical mapping of a highly polymorphic locus on human chromosome 11q13","volume":"11","author":"Eubanks","year":"1991","journal-title":"Genomics"},{"issue":"2","key":"10.1002\/humu.23658-BIB0018|humu23658-cit-0018","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1172\/JCI200420138","article-title":"Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport","volume":"113","author":"Ferreirinha","year":"2004","journal-title":"Journal of Clinical Investigation"},{"key":"10.1002\/humu.23658-BIB0019|humu23658-cit-0019","article-title":"Co-immunoprecipitation of human mitochondrial proteases AFG3L2 and paraplegin heterologously expressed in yeast cells","author":"Fracasso","year":"2010","journal-title":"Nature Protocols"},{"issue":"4","key":"10.1002\/humu.23658-BIB0020|humu23658-cit-0020","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1007\/s10048-007-0101-5","article-title":"Frataxin gene point mutations in Italian Friedreich ataxia patients","volume":"8","author":"Gellera","year":"2007","journal-title":"Neurogenetics"},{"issue":"7","key":"10.1002\/humu.23658-BIB0021|humu23658-cit-0021","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1083\/jcb.200906083","article-title":"Inducible proteolytic inactivation of OPA1 mediated by the OMA1 protease in mammalian cells","volume":"187","author":"Head","year":"2009","journal-title":"Journal of Cell Biology"},{"issue":"13","key":"10.1002\/humu.23658-BIB0022|humu23658-cit-0022","doi-asserted-by":"crossref","first-page":"2966","DOI":"10.1038\/sj.emboj.7601184","article-title":"Regulation of mitochondrial morphology through proteolytic cleavage of OPA1","volume":"25","author":"Ishihara","year":"2006","journal-title":"The EMBO Journal"},{"issue":"Pt 10","key":"10.1002\/humu.23658-BIB0023|humu23658-cit-0023","doi-asserted-by":"crossref","first-page":"2980","DOI":"10.1093\/brain\/aws240","article-title":"Spastic paraplegia gene 7 in patients with spasticity and\/or optic neuropathy","volume":"135","author":"Klebe","year":"2012","journal-title":"Brain"},{"issue":"1","key":"10.1002\/humu.23658-BIB0024|humu23658-cit-0024","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/cyto.a.20198","article-title":"Simultaneous quantitative measurement and automated analysis of mitochondrial morphology, mass, potential, and motility in living human skin fibroblasts","volume":"69","author":"Koopman","year":"2006","journal-title":"Cytometry A"},{"issue":"19","key":"10.1002\/humu.23658-BIB0025|humu23658-cit-0025","doi-asserted-by":"crossref","first-page":"4216","DOI":"10.1091\/mbc.e09-03-0218","article-title":"Autocatalytic processing of m-AAA protease subunits in mitochondria","volume":"20","author":"Koppen","year":"2009","journal-title":"Molecular Biology of the Cell"},{"issue":"3","key":"10.1002\/humu.23658-BIB0026|humu23658-cit-0026","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1080\/10409230701380452","article-title":"Protein degradation within mitochondria: Versatile activities of AAA proteases and other peptidases","volume":"42","author":"Koppen","year":"2007","journal-title":"Critical Reviews in Biochemistry and Molecular Biology"},{"issue":"6","key":"10.1002\/humu.23658-BIB0027|humu23658-cit-0027","doi-asserted-by":"crossref","first-page":"1725","DOI":"10.1042\/BST20160129","article-title":"Mitochondrial fission and fusion","volume":"44","author":"Lee","year":"2016","journal-title":"Biochemical Society Transactions"},{"issue":"5","key":"10.1002\/humu.23658-BIB0028|humu23658-cit-0028","doi-asserted-by":"crossref","first-page":"e188","DOI":"10.1212\/NXG.0000000000000188","article-title":"Nonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to OPA1 mutations","volume":"3","author":"Lynch","year":"2017","journal-title":"Neurology Genetics"},{"issue":"12","key":"10.1002\/humu.23658-BIB0029|humu23658-cit-0029","doi-asserted-by":"crossref","first-page":"2297","DOI":"10.1242\/jcs.159186","article-title":"OPA1 processing in cell death and disease - the long and short of it","volume":"129","author":"MacVicar","year":"2016","journal-title":"Journal of Cell Science"},{"key":"10.1002\/humu.23658-BIB0030|humu23658-cit-0030","article-title":"Preparation of yeast mitochondria and in vitro assay of respiratory chain complex activities","author":"Magri","year":"2010","journal-title":"Nature Protocols"},{"issue":"11","key":"10.1002\/humu.23658-BIB0031|humu23658-cit-0031","doi-asserted-by":"crossref","first-page":"2827","DOI":"10.1523\/JNEUROSCI.4677-07.2008","article-title":"The mitochondrial protease AFG3L2 is essential for axonal development","volume":"28","author":"Maltecca","year":"2008","journal-title":"The Journal of Neuroscience"},{"issue":"29","key":"10.1002\/humu.23658-BIB0032|humu23658-cit-0032","doi-asserted-by":"crossref","first-page":"9244","DOI":"10.1523\/JNEUROSCI.1532-09.2009","article-title":"Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration","volume":"29","author":"Maltecca","year":"2009","journal-title":"The Journal of Neuroscience"},{"issue":"11","key":"10.1002\/humu.23658-BIB0033|humu23658-cit-0033","doi-asserted-by":"crossref","first-page":"2001","DOI":"10.1093\/hmg\/ddp124","article-title":"Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration","volume":"18","author":"Martinelli","year":"2009","journal-title":"Human Molecular Genetics"},{"issue":"1","key":"10.1002\/humu.23658-BIB0034|humu23658-cit-0034","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1038\/ng.3144","article-title":"A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy","volume":"47","author":"Muona","year":"2015","journal-title":"Nature Genetics"},{"issue":"22","key":"10.1002\/humu.23658-BIB0035|humu23658-cit-0035","doi-asserted-by":"crossref","first-page":"10519","DOI":"10.1073\/pnas.90.22.10519","article-title":"De novo synthesis of budding yeast DNA polymerase alpha and POL1 transcription at the G1\/S boundary are not required for entrance into S phase","volume":"90","author":"Muzi-Falconi","year":"1993","journal-title":"Proceedings of the National Academy of Science of the United States of America"},{"issue":"2","key":"10.1002\/humu.23658-BIB0036|humu23658-cit-0036","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/j.cell.2005.08.003","article-title":"The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria","volume":"123","author":"Nolden","year":"2005","journal-title":"Cell"},{"issue":"1-2","key":"10.1002\/humu.23658-BIB0037|humu23658-cit-0037","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1016\/j.jsb.2003.11.008","article-title":"Conserved arginine residues implicated in ATP hydrolysis, nucleotide-sensing, and inter-subunit interactions in AAA and AAA+ ATPases","volume":"146","author":"Ogura","year":"2004","journal-title":"Journal of Structural Biology"},{"key":"10.1002\/humu.23658-BIB0038|humu23658-cit-0038","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/1477-5956-7-20","article-title":"Mitochondrial proteomics on human fibroblasts for identification of metabolic imbalance and cellular stress","volume":"7","author":"Palmfeldt","year":"2009","journal-title":"Proteome Science"},{"issue":"Pt 5","key":"10.1002\/humu.23658-BIB0039|humu23658-cit-0039","doi-asserted-by":"crossref","first-page":"1323","DOI":"10.1093\/brain\/awu060","article-title":"Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance","volume":"137","author":"Pfeffer","year":"2014","journal-title":"Brain"},{"issue":"10","key":"10.1002\/humu.23658-BIB0040|humu23658-cit-0040","doi-asserted-by":"crossref","first-page":"e1002325","DOI":"10.1371\/journal.pgen.1002325","article-title":"Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases","volume":"7","author":"Pierson","year":"2011","journal-title":"PLoS Genetics"},{"issue":"9","key":"10.1002\/humu.23658-BIB0041|humu23658-cit-0041","doi-asserted-by":"crossref","first-page":"2117","DOI":"10.1038\/emboj.2012.70","article-title":"Loss of mitochondrial protease OMA1 alters processing of the GTPase OPA1 and causes obesity and defective thermogenesis in mice","volume":"31","author":"Quir\u00f3s","year":"2012","journal-title":"The EMBO Journal"},{"issue":"5","key":"10.1002\/humu.23658-BIB0042|humu23658-cit-0042","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genetics in Medicine"},{"issue":"2","key":"10.1002\/humu.23658-BIB0043|humu23658-cit-0043","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1083\/jcb.201504062","article-title":"Quality control of mitochondrial protein synthesis is required for membrane integrity and cell fitness","volume":"211","author":"Richter","year":"2015","journal-title":"Journal of Cell Biology"},{"issue":"5","key":"10.1002\/humu.23658-BIB0044|humu23658-cit-0044","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1083\/jcb.200704110","article-title":"OPA1 processing controls mitochondrial fusion and is regulated by mRNA splicing, membrane potential, and Yme1L","volume":"178","author":"Song","year":"2007","journal-title":"Journal of Cell Biology"},{"issue":"5","key":"10.1002\/humu.23658-BIB0045|humu23658-cit-0045","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1016\/j.molcel.2006.04.020","article-title":"Structure of the whole cytosolic region of ATP-dependent protease FtsH","volume":"22","author":"Suno","year":"2006","journal-title":"Molecular Cell"},{"issue":"2","key":"10.1002\/humu.23658-BIB0046|humu23658-cit-0046","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1038\/sj.emboj.7601514","article-title":"m-AAA protease-driven membrane dislocation allows intramembrane cleavage by rhomboid in mitochondria","volume":"26","author":"Tatsuta","year":"2007","journal-title":"The EMBO Journal"},{"issue":"3","key":"10.1002\/humu.23658-BIB0047|humu23658-cit-0047","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1111\/cge.13107","article-title":"Mechanisms of Mendelian dominance","volume":"93","author":"Veitia","year":"2018","journal-title":"Clinical Genetics"},{"issue":"3","key":"10.1002\/humu.23658-BIB0048|humu23658-cit-0048","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1093\/hmg\/8.3.425","article-title":"The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis","volume":"8","author":"Wong","year":"1999","journal-title":"Human Molecular Genetics"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.23658","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.23658\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:56:05Z","timestamp":1672332965000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.23658"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10,10]]},"references-count":48,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2018,12]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.23658","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2018,10,10]]}}}