{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T15:23:33Z","timestamp":1780327413105,"version":"3.54.1"},"publisher-location":"Berlin, Heidelberg","reference-count":15,"publisher":"Springer Berlin Heidelberg","isbn-type":[{"value":"9783662586167","type":"print"},{"value":"9783662586174","type":"electronic"}],"license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018]]},"DOI":"10.1007\/8904_2018_115","type":"book-chapter","created":{"date-parts":[[2018,6,19]],"date-time":"2018-06-19T10:44:07Z","timestamp":1529405047000},"page":"1-7","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy"],"prefix":"10.1007","author":[{"given":"Arcangela","family":"Iuso","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bader","family":"Alhaddad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corina","family":"Weigel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Urania","family":"Kotzaeridou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Mastantuono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Schwarzmayr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Graf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina","family":"Terrile","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holger","family":"Prokisch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim M.","family":"Strom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georg F.","family":"Hoffmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Meitinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias B.","family":"Haack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,6,20]]},"reference":[{"key":"115_CR1","doi-asserted-by":"publisher","first-page":"1097","DOI":"10.1111\/cge.13210","volume":"93","author":"M Almannai","year":"2018","unstructured":"Almannai M, Alsamri A, Alqasmi A, Faqeih E, AlMutairi F, Alotaibi M et al (2018) Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy. Clin Genet 93:1097\u20131102","journal-title":"Clin Genet"},{"issue":"13","key":"115_CR2","doi-asserted-by":"publisher","first-page":"2058","DOI":"10.1093\/hmg\/ddn105","volume":"17","author":"F Bosveld","year":"2008","unstructured":"Bosveld F, Rana A, van der Wouden PE, Lemstra W, Ritsema M, Kampinga HH et al (2008) De novo CoA biosynthesis is required to maintain DNA integrity during development of the Drosophila nervous system. Hum Mol Genet 17(13):2058\u20132069","journal-title":"Hum Mol Genet"},{"issue":"1","key":"115_CR3","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1016\/j.ajhg.2013.11.008","volume":"94","author":"S Dusi","year":"2014","unstructured":"Dusi S, Valletta L, Haack TB, Tsuchiya Y, Venco P, Pasqualato S et al (2014) Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. Am J Hum Genet 94(1):11\u201322","journal-title":"Am J Hum Genet"},{"issue":"27","key":"115_CR4","doi-asserted-by":"publisher","first-page":"18152","DOI":"10.1074\/jbc.M109.014118","volume":"284","author":"G Fiermonte","year":"2009","unstructured":"Fiermonte G, Paradies E, Todisco S, Marobbio CM, Palmieri F (2009) A novel member of solute carrier family 25 (SLC25A42) is a transporter of coenzyme A and adenosine 3\u2032,5\u2032-diphosphate in human mitochondria. J Biol Chem 284(27):18152\u201318159","journal-title":"J Biol Chem"},{"issue":"12","key":"115_CR5","doi-asserted-by":"publisher","first-page":"1131","DOI":"10.1038\/ng.706","volume":"42","author":"TB Haack","year":"2010","unstructured":"Haack TB, Danhauser K, Haberberger B, Hoser J, Strecker V, Boehm D et al (2010) Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat Genet 42(12):1131\u20131134","journal-title":"Nat Genet"},{"issue":"2","key":"115_CR6","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1016\/j.ajhg.2013.06.006","volume":"93","author":"TB Haack","year":"2013","unstructured":"Haack TB, Kopajtich R, Freisinger P, Wieland T, Rorbach J, Nicholls TJ et al (2013) ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. Am J Hum Genet 93(2):211\u2013223","journal-title":"Am J Hum Genet"},{"issue":"6","key":"115_CR7","doi-asserted-by":"publisher","first-page":"1018","DOI":"10.1016\/j.ajhg.2018.03.022","volume":"102","author":"Arcangela Iuso","year":"2018","unstructured":"Iuso A, Wiersma M, Sch\u00fcller HJ, Pode-Shakked B, Marek-Yagel D, Grigat M, Schwarzmayr T, Berutti R, Alhaddad B, Kanon B, Grzechik NA, Okun JG, Perles Z, Salem Y, Barel O, Vardi A, Rubinshtein M, Tirosh T, Dubnov-Raz G, Messias AC, Terrile C, Barshack I, Volkov A, Avivi C, Eyal E, Mastantuono E, Kumbar M, Abudi S, Braunisch M, Strom TM, Meitinger T, Hoffmann GF, Prokisch H, Haack TB, Brundel BJJM, Haas D, Sibon OCM, Anikster Y (2018) Mutations in phosphopantothenoylcysteine synthetase (PPCS) cause dilated cardiomyopathy. Am J Hum Genet. \nhttps:\/\/doi.org\/10.1016\/j.ajhg.2018.03.022","journal-title":"The American Journal of Human Genetics"},{"issue":"2\u20133","key":"115_CR8","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1016\/j.plipres.2005.04.001","volume":"44","author":"R Leonardi","year":"2005","unstructured":"Leonardi R, Zhang YM, Rock CO, Jackowski S (2005) Coenzyme A: back in action. Prog Lipid Res 44(2\u20133):125\u2013153","journal-title":"Prog Lipid Res"},{"issue":"5","key":"115_CR9","doi-asserted-by":"publisher","first-page":"689","DOI":"10.1007\/s00424-003-1099-7","volume":"447","author":"F Palmieri","year":"2004","unstructured":"Palmieri F (2004) The mitochondrial transporter family (SLC25): physiological and pathological implications. Pflugers Arch 447(5):689\u2013709","journal-title":"Pflugers Arch"},{"issue":"2\u20133","key":"115_CR10","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1016\/j.mam.2012.05.005","volume":"34","author":"F Palmieri","year":"2013","unstructured":"Palmieri F (2013) The mitochondrial transporter family SLC25: identification, properties and physiopathology. Mol Asp Med 34(2\u20133):465\u2013484","journal-title":"Mol Asp Med"},{"issue":"4","key":"115_CR11","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1007\/s10545-014-9708-5","volume":"37","author":"F Palmieri","year":"2014","unstructured":"Palmieri F (2014) Mitochondrial transporters of the SLC25 family and associated diseases: a review. J Inherit Metab Dis 37(4):565\u2013575","journal-title":"J Inherit Metab Dis"},{"issue":"10","key":"115_CR12","doi-asserted-by":"publisher","first-page":"2362","DOI":"10.1016\/j.bbamcr.2016.03.007","volume":"1863","author":"F Palmieri","year":"2016","unstructured":"Palmieri F, Monne M (2016) Discoveries, metabolic roles and diseases of mitochondrial carriers: a review. Biochim Biophys Acta 1863(10):2362\u20132378","journal-title":"Biochim Biophys Acta"},{"issue":"15","key":"115_CR13","doi-asserted-by":"publisher","first-page":"6988","DOI":"10.1073\/pnas.0912105107","volume":"107","author":"A Rana","year":"2010","unstructured":"Rana A, Seinen E, Siudeja K, Muntendam R, Srinivasan B, van der Want JJ et al (2010) Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration. Proc Natl Acad Sci U S A 107(15):6988\u20136993","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"1","key":"115_CR14","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1007\/s00439-015-1608-8","volume":"135","author":"HE Shamseldin","year":"2016","unstructured":"Shamseldin HE, Smith LL, Kentab A, Alkhalidi H, Summers B, Alsedairy H et al (2016) Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans. Hum Genet 135(1):21\u201330","journal-title":"Hum Genet"},{"issue":"2","key":"115_CR15","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1016\/j.bbabio.2016.11.006","volume":"1858","author":"A Vozza","year":"2017","unstructured":"Vozza A, De Leonardis F, Paradies E, De Grassi A, Pierri CL, Parisi G et al (2017) Biochemical characterization of a new mitochondrial transporter of dephosphocoenzyme A in Drosophila melanogaster. Biochim Biophys Acta 1858(2):137\u2013146","journal-title":"Biochim Biophys Acta"}],"container-title":["JIMD Reports","JIMD Reports, Volume 44"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/8904_2018_115","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,10]],"date-time":"2019-05-10T14:58:16Z","timestamp":1557500296000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/8904_2018_115"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018]]},"ISBN":["9783662586167","9783662586174"],"references-count":15,"URL":"https:\/\/doi.org\/10.1007\/8904_2018_115","relation":{},"ISSN":["2192-8304","2192-8312"],"issn-type":[{"value":"2192-8304","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018]]}}}