{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T19:29:56Z","timestamp":1792783796369,"version":"4.5.0"},"reference-count":35,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2021,10,28]],"date-time":"2021-10-28T00:00:00Z","timestamp":1635379200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,10,28]],"date-time":"2021-10-28T00:00:00Z","timestamp":1635379200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100001809","name":"national natural science foundation of china","doi-asserted-by":"publisher","award":["81870889"],"award-info":[{"award-number":["81870889"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"national natural science foundation of china","doi-asserted-by":"publisher","award":["82071258"],"award-info":[{"award-number":["82071258"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"shanghai municipal commission of health and family planning","award":["20184Y0056"],"award-info":[{"award-number":["20184Y0056"]}],"id":[{"id":"https:\/\/ror.org\/03at7w331","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Metab Brain Dis"],"published-print":{"date-parts":[[2022,2]]},"DOI":"10.1007\/s11011-021-00856-8","type":"journal-article","created":{"date-parts":[[2021,10,28]],"date-time":"2021-10-28T09:02:51Z","timestamp":1635411771000},"page":"311-317","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Novel IBA57 mutations in two chinese patients and literature review of multiple mitochondrial dysfunction syndrome"],"prefix":"10.1007","volume":"37","author":[{"given":"Feixia","family":"Zhan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoli","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruilong","family":"Ni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taotao","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuwen","family":"Cao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingying","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wotu","family":"Tian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinghua","family":"Luan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1742-9877","authenticated-orcid":false,"given":"Li","family":"Cao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,10,28]]},"reference":[{"key":"856_CR1","doi-asserted-by":"publisher","first-page":"2590","DOI":"10.1093\/hmg\/ddt107","volume":"22","author":"N Ajit Bolar","year":"2013","unstructured":"Ajit Bolar N, Vanlander A, Wilbrecht C, Van der Aa N, Smet J, De Paepe B et al (2013) Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy. Hum Mol Genet 22:2590\u20132602","journal-title":"Hum Mol Genet"},{"key":"856_CR2","doi-asserted-by":"publisher","first-page":"2329048X1984737","DOI":"10.1177\/2329048X19847377","volume":"6","author":"M Alfadhel","year":"2019","unstructured":"Alfadhel M (2019) Multiple mitochondrial dysfunctions syndrome 4 due to ISCA2 gene defects: a review. Child Neurol Open 6:2329048X19847377","journal-title":"Child Neurol Open"},{"key":"856_CR3","doi-asserted-by":"publisher","first-page":"4","DOI":"10.17712\/nsj.2017.1.20160542","volume":"22","author":"M Alfadhel","year":"2017","unstructured":"Alfadhel M, Nashabat M, Abu Ali Q, Hundallah K (2017) Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease. Neurosciences (Riyadh) 22:4\u201313","journal-title":"Neurosciences (Riyadh)"},{"key":"856_CR4","doi-asserted-by":"publisher","first-page":"186","DOI":"10.1136\/jmedgenet-2014-102592","volume":"52","author":"Z Al-Hassnan","year":"2015","unstructured":"Al-Hassnan Z, Al-Dosary M, Alfadhel M, Faqeih E, Alsagob M, Kenana R et al (2015) ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder. J Med Genet 52:186\u2013194","journal-title":"J Med Genet"},{"key":"856_CR5","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1080\/14737175.2020.1699060","volume":"20","author":"M Ashrafi","year":"2020","unstructured":"Ashrafi M, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M et al (2020) An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies. Expert Rev Neurother 20:65\u201384","journal-title":"Expert Rev Neurother"},{"key":"856_CR6","doi-asserted-by":"publisher","first-page":"486","DOI":"10.1016\/j.ajhg.2011.08.011","volume":"89","author":"J Cameron","year":"2011","unstructured":"Cameron J, Janer A, Levandovskiy V, Mackay N, Rouault T, Tong W et al (2011) Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes. Am J Hum Genet 89:486\u2013495","journal-title":"Am J Hum Genet"},{"key":"856_CR7","doi-asserted-by":"publisher","first-page":"1147","DOI":"10.1007\/s10545-015-9857-1","volume":"38","author":"F Debray","year":"2015","unstructured":"Debray F, St\u00fcmpfig C, Vanlander A, Dideberg V, Josse C, Caberg J et al (2015) Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy. J Inherit Metab Dis 38:1147\u20131153","journal-title":"J Inherit Metab Dis"},{"key":"856_CR8","doi-asserted-by":"publisher","first-page":"14401","DOI":"10.1021\/jacs.8b09061","volume":"140","author":"S Gourdoupis","year":"2018","unstructured":"Gourdoupis S, Nasta V, Calderone V, Ciofi-Baffoni S, Banci L (2018) IBA57 recruits ISCA2 to Form a [2Fe-2S] cluster-mediated complex. J Am Chem Soc 140:14401\u201314412","journal-title":"J Am Chem Soc"},{"key":"856_CR9","doi-asserted-by":"publisher","first-page":"1223","DOI":"10.1038\/s10038-018-0516-x","volume":"63","author":"K Hamanaka","year":"2018","unstructured":"Hamanaka K, Miyatake S, Zerem A, Lev D, Blumkin L, Yokochi K et al (2018) Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic. J Hum Genet 63:1223\u20131229","journal-title":"J Hum Genet"},{"key":"856_CR10","doi-asserted-by":"publisher","first-page":"e184","DOI":"10.1212\/NXG.0000000000000184","volume":"3","author":"A Ishiyama","year":"2017","unstructured":"Ishiyama A, Sakai C, Matsushima Y, Noguchi S, Mitsuhashi S, Endo Y et al (2017) IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy. Neurol Genet 3:e184","journal-title":"Neurol Genet"},{"key":"856_CR11","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1016\/j.ymgme.2017.08.001","volume":"122","author":"E Lebigot","year":"2017","unstructured":"Lebigot E, Gaignard P, Dorboz I, Slama A, Rio M, de Lonlay P et al (2017) Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients. Mol Genet Metab 122:85\u201394","journal-title":"Mol Genet Metab"},{"key":"856_CR12","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1016\/j.ymgme.2004.09.008","volume":"84","author":"T Lerman-Sagie","year":"2005","unstructured":"Lerman-Sagie T, Leshinsky-Silver E, Watemberg N, Luckman Y, Lev D (2005) White matter involvement in mitochondrial diseases. Mol Genet Metab 84:127\u2013136","journal-title":"Mol Genet Metab"},{"key":"856_CR13","doi-asserted-by":"publisher","first-page":"831","DOI":"10.1038\/nature08301","volume":"460","author":"R Lill","year":"2009","unstructured":"Lill R (2009) Function and biogenesis of iron-sulphur proteins. Nature 460:831\u2013838","journal-title":"Nature"},{"key":"856_CR14","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1146\/annurev-biochem-013118-111540","volume":"89","author":"R Lill","year":"2020","unstructured":"Lill R, Freibert S (2020) Mechanisms of mitochondrial iron-sulfur protein biogenesis. Annu Rev Biochem 89:471\u2013499","journal-title":"Annu Rev Biochem"},{"key":"856_CR15","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1111\/cge.13090","volume":"93","author":"M Liu","year":"2018","unstructured":"Liu M, Zhang J, Zhang Z, Zhou L, Jiang Y, Wang J et al (2018) Phenotypic spectrum of mutations in IBA57, a candidate gene for cavitating leukoencephalopathy. Clin Genet 93:235\u2013241","journal-title":"Clin Genet"},{"key":"856_CR16","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1186\/s13023-021-01939-6","volume":"16","author":"J Long","year":"2021","unstructured":"Long J, Best S, Hatem S, Theodorou T, Catton T, Murray S et al (2021) The long and winding road: perspectives of people and parents of children with mitochondrial conditions negotiating management after diagnosis. Orphanet J Rare Dis 16:310","journal-title":"Orphanet J Rare Dis"},{"key":"856_CR17","doi-asserted-by":"publisher","first-page":"659","DOI":"10.1212\/WNL.0000000000001270","volume":"84","author":"A Lossos","year":"2015","unstructured":"Lossos A, St\u00fcmpfig C, Stevanin G, Gaussen M, Zimmerman B, Mundwiller E et al (2015) Fe\/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia. Neurology 84:659\u2013667","journal-title":"Neurology"},{"key":"856_CR18","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1016\/j.tibs.2020.02.001","volume":"45","author":"N Maio","year":"2020","unstructured":"Maio N, Rouault T (2020) Outlining the complex pathway of mammalian Fe-S Cluster biogenesis. Trends Biochem Sci 45:411\u2013426","journal-title":"Trends Biochem Sci"},{"key":"856_CR19","doi-asserted-by":"publisher","first-page":"929","DOI":"10.1002\/ana.20671","volume":"58","author":"S Naidu","year":"2005","unstructured":"Naidu S, Bibat G, Lin D, Burger P, Barker P, Rosemberg S et al (2005) Progressive cavitating leukoencephalopathy: a novel childhood disease. Ann Neurol 58:929\u2013938","journal-title":"Ann Neurol"},{"key":"856_CR20","doi-asserted-by":"publisher","first-page":"18986","DOI":"10.1038\/s41598-019-55313-5","volume":"9","author":"V Nasta","year":"2019","unstructured":"Nasta V, Da Vela S, Gourdoupis S, Ciofi-Baffoni S, Svergun D, Banci L (2019) structural properties of [2Fe-2S] ISCA2-IBA57: a complex of the mitochondrial iron-sulfur cluster assembly machinery. Sci Rep 9:18986","journal-title":"Sci Rep"},{"key":"856_CR21","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1016\/j.mito.2014.01.003","volume":"15","author":"M Nizon","year":"2014","unstructured":"Nizon M, Boutron A, Boddaert N, Slama A, Delpech H, Sardet C et al (2014) Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency. Mitochondrion 15:59\u201364","journal-title":"Mitochondrion"},{"key":"856_CR22","doi-asserted-by":"publisher","unstructured":"Parikh S, Goldstein A, Karaa A, Koenig M, Anselm I, Brunel-Guitton C et al (2017) Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med 19. https:\/\/doi.org\/10.1038\/gim.2017.1107","DOI":"10.1038\/gim.2017.1107"},{"key":"856_CR23","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J et al (2015) 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. Genet Med 17:405\u2013424","journal-title":"Genet Med"},{"key":"856_CR24","doi-asserted-by":"publisher","first-page":"4848","DOI":"10.3390\/ijms22094848","volume":"22","author":"G Saudino","year":"2021","unstructured":"Saudino G, Suraci D, Nasta V, Ciofi-Baffoni S, Banci L (2021) Molecular basis of multiple mitochondrial dysfunctions syndrome 2 caused by CYS59TYR BOLA3 mutation. Int J Mol Sci 22:4848","journal-title":"Int J Mol Sci"},{"key":"856_CR25","doi-asserted-by":"publisher","first-page":"723","DOI":"10.1038\/jhg.2017.35","volume":"62","author":"A Shukla","year":"2017","unstructured":"Shukla A, Hebbar M, Srivastava A, Kadavigere R, Upadhyai P, Kanthi A et al (2017) Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. J Hum Genet 62:723\u2013727","journal-title":"J Hum Genet"},{"key":"856_CR26","doi-asserted-by":"publisher","first-page":"a011312","DOI":"10.1101\/cshperspect.a011312","volume":"5","author":"O Stehling","year":"2013","unstructured":"Stehling O, Lill R (2013) The role of mitochondria in cellular iron-sulfur protein biogenesis: mechanisms, connected processes, and diseases. Cold Spring Harb Perspect Biol 5:a011312","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"856_CR27","doi-asserted-by":"publisher","first-page":"166924","DOI":"10.1016\/j.jmb.2021.166924","volume":"433","author":"D Suraci","year":"2021","unstructured":"Suraci D, Saudino G, Nasta V, Ciofi-Baffoni S, Banci L (2021) ISCA1 orchestrates ISCA2 and NFU1 in the maturation of human mitochondrial [4Fe-4S] proteins. J Mol Biol 433:166924","journal-title":"J Mol Biol"},{"key":"856_CR28","doi-asserted-by":"publisher","first-page":"1561","DOI":"10.1016\/j.addr.2008.05.001","volume":"60","author":"M Tarnopolsky","year":"2008","unstructured":"Tarnopolsky M (2008) The mitochondrial cocktail: rationale for combined nutraceutical therapy in mitochondrial cytopathies. Adv Drug Deliv Rev 60:1561\u20131567","journal-title":"Adv Drug Deliv Rev"},{"key":"856_CR29","doi-asserted-by":"publisher","first-page":"805","DOI":"10.1007\/s11011-017-0181-3","volume":"33","author":"I Toldo","year":"2018","unstructured":"Toldo I, Nosadini M, Boscardin C, Talenti G, Manara R, Lamantea E et al (2018) Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations. Metab Brain Dis 33:805\u2013812","journal-title":"Metab Brain Dis"},{"key":"856_CR30","doi-asserted-by":"publisher","first-page":"102","DOI":"10.1007\/s00415-016-8312-z","volume":"264","author":"A Torraco","year":"2017","unstructured":"Torraco A, Ardissone A, Invernizzi F, Rizza T, Fiermonte G, Niceta M et al (2017) Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes. J Neurol 264:102\u2013111","journal-title":"J Neurol"},{"key":"856_CR31","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1016\/j.siny.2011.04.003","volume":"16","author":"G Uziel","year":"2011","unstructured":"Uziel G, Ghezzi D, Zeviani M (2011) Infantile mitochondrial encephalopathy. Semin Fetal Neonatal Med 16:205\u2013215","journal-title":"Semin Fetal Neonatal Med"},{"key":"856_CR32","doi-asserted-by":"publisher","first-page":"756","DOI":"10.1016\/j.braindev.2020.07.009","volume":"42","author":"T Uzunhan","year":"2020","unstructured":"Uzunhan T, \u00c7akar N, Seyhan S, Aydin K (2020) A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation. Brain Dev 42:756\u2013761","journal-title":"Brain Dev"},{"key":"856_CR33","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1016\/j.ajhg.2018.02.014","volume":"102","author":"F V\u00f6gtle","year":"2018","unstructured":"V\u00f6gtle F, Br\u00e4ndl B, Larson A, Pendziwiat M, Friederich M, White S et al (2018) Mutations in PMPCB encoding the catalytic subunit of the mitochondrial Presequence protease cause neurodegeneration in early childhood. Am J Hum Genet 102:557\u2013573","journal-title":"Am J Hum Genet"},{"key":"856_CR34","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1039\/C7MT00180K","volume":"10","author":"C Wachnowsky","year":"2018","unstructured":"Wachnowsky C, Fidai I, Cowan J (2018) Iron-sulfur cluster biosynthesis and trafficking - impact on human disease conditions. Metallomics 10:9\u201329","journal-title":"Metallomics"},{"key":"856_CR35","doi-asserted-by":"publisher","first-page":"20555","DOI":"10.1073\/pnas.2003982117","volume":"117","author":"B Weiler","year":"2020","unstructured":"Weiler B, Br\u00fcck M, Kothe I, Bill E, Lill R, M\u00fchlenhoff U (2020) Mitochondrial [4Fe-4S] protein assembly involves reductive [2Fe-2S] cluster fusion on ISCA1-ISCA2 by electron flow from ferredoxin FDX2. Proc Natl Acad Sci U S A 117:20555\u201320565","journal-title":"Proc Natl Acad Sci U S A"}],"container-title":["Metabolic Brain Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11011-021-00856-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s11011-021-00856-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11011-021-00856-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,1,23]],"date-time":"2022-01-23T23:49:10Z","timestamp":1642981750000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s11011-021-00856-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,28]]},"references-count":35,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2022,2]]}},"alternative-id":["856"],"URL":"https:\/\/doi.org\/10.1007\/s11011-021-00856-8","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-770528\/v1","asserted-by":"object"}]},"ISSN":["0885-7490","1573-7365"],"issn-type":[{"value":"0885-7490","type":"print"},{"value":"1573-7365","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,10,28]]},"assertion":[{"value":"31 July 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 October 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 October 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was approved by the ethics committee of Shanghai Jiao Tong University Affiliated Sixth People\u2019s Hospital, Shanghai, China. Written informed consent, which also included the consent for the publication of medical information, was obtained from the guardians.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"All authors in this study have no conflict of interest.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}