{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T03:59:59Z","timestamp":1793764799378,"version":"4.6.1"},"reference-count":37,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2018,6,1]],"date-time":"2018-06-01T00:00:00Z","timestamp":1527811200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,6,1]],"date-time":"2018-06-01T00:00:00Z","timestamp":1527811200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2018,12,7]],"date-time":"2018-12-07T00:00:00Z","timestamp":1544140800000},"content-version":"vor","delay-in-days":189,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00c3\u00bcr Bildung und Forschung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2018,6]]},"DOI":"10.1016\/j.ajhg.2018.03.022","type":"journal-article","created":{"date-parts":[[2018,5,10]],"date-time":"2018-05-10T10:42:04Z","timestamp":1525948924000},"page":"1018-1030","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":64,"title":["Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy"],"prefix":"10.1016","volume":"102","author":[{"given":"Arcangela","family":"Iuso","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marit","family":"Wiersma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans-Joachim","family":"Sch\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ben","family":"Pode-Shakked","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dina","family":"Marek-Yagel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathias","family":"Grigat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Schwarzmayr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riccardo","family":"Berutti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bader","family":"Alhaddad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart","family":"Kanon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola A.","family":"Grzeschik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00fcrgen G.","family":"Okun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeev","family":"Perles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yishay","family":"Salem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ortal","family":"Barel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amir","family":"Vardi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Rubinshtein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tal","family":"Tirosh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gal","family":"Dubnov-Raz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana C.","family":"Messias","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina","family":"Terrile","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iris","family":"Barshack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex","family":"Volkov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camilla","family":"Avivi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eran","family":"Eyal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Mastantuono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhamad","family":"Kumbar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shachar","family":"Abudi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Braunisch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim M.","family":"Strom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Meitinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georg F.","family":"Hoffmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holger","family":"Prokisch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias B.","family":"Haack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bianca J.J.M.","family":"Brundel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorothea","family":"Haas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ody C.M.","family":"Sibon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yair","family":"Anikster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2018.03.022_bib1","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1002\/ana.20771","article-title":"Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation","volume":"59","author":"Hartig","year":"2006","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ajhg.2018.03.022_bib2","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/j.ajhg.2013.11.008","article-title":"Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation","volume":"94","author":"Dusi","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2018.03.022_bib3","first-page":"1","article-title":"Neurodegeneration with brain iron accumulation: diagnosis and management","volume":"8","author":"Hogarth","year":"2015","journal-title":"J.\u00a0Mov. Disord."},{"key":"10.1016\/j.ajhg.2018.03.022_bib4","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1016\/j.parkreldis.2016.03.011","article-title":"Mutational analysis of COASY in an Italian patient with NBIA","volume":"28","author":"Annesi","year":"2016","journal-title":"Parkinsonism Relat. Disord."},{"key":"10.1016\/j.ajhg.2018.03.022_bib5","doi-asserted-by":"crossref","first-page":"1878","DOI":"10.1002\/ajmg.a.38252","article-title":"Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger\u2019s eye","volume":"173","author":"Evers","year":"2017","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2018.03.022_bib6","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1007\/s00294-009-0234-1","article-title":"Genetic analysis of coenzyme A biosynthesis in the yeast Saccharomyces cerevisiae: identification of a conditional mutation in\u00a0the pantothenate kinase gene CAB1","volume":"55","author":"Olzhausen","year":"2009","journal-title":"Curr. Genet."},{"key":"10.1016\/j.ajhg.2018.03.022_bib7","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1186\/1756-0500-1-75","article-title":"Drosophila phosphopantothenoylcysteine synthetase is required for tissue morphogenesis during oogenesis","volume":"1","author":"Bosveld","year":"2008","journal-title":"BMC Res. Notes"},{"key":"10.1016\/j.ajhg.2018.03.022_bib8","doi-asserted-by":"crossref","first-page":"2058","DOI":"10.1093\/hmg\/ddn105","article-title":"De\u00a0novo CoA biosynthesis is required to maintain DNA integrity during development of the Drosophila nervous system","volume":"17","author":"Bosveld","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2018.03.022_bib9","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1016\/S0969-2126(03)00146-1","article-title":"Structure of human phosphopantothenoylcysteine synthetase at 2.3 A resolution","volume":"11","author":"Manoj","year":"2003","journal-title":"Structure"},{"key":"10.1016\/j.ajhg.2018.03.022_bib10","doi-asserted-by":"crossref","first-page":"1977","DOI":"10.1016\/j.str.2004.08.007","article-title":"Structural basis of CTP-dependent peptide bond formation in coenzyme A biosynthesis catalyzed by Escherichia coli PPC synthetase","volume":"12","author":"Stanitzek","year":"2004","journal-title":"Structure"},{"key":"10.1016\/j.ajhg.2018.03.022_bib11","doi-asserted-by":"crossref","first-page":"D365","DOI":"10.1093\/nar\/gkn790","article-title":"The protein structure initiative structural genomics knowledgebase","volume":"37","author":"Berman","year":"2009","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2018.03.022_bib12","doi-asserted-by":"crossref","first-page":"3389","DOI":"10.1093\/nar\/25.17.3389","article-title":"Gapped BLAST and PSI-BLAST: a new generation of protein database search programs","volume":"25","author":"Altschul","year":"1997","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2018.03.022_bib13","doi-asserted-by":"crossref","first-page":"10495","DOI":"10.1073\/pnas.88.23.10495","article-title":"Efficient detection of\u00a0three-dimensional structural motifs in biological macromolecules by computer vision techniques","volume":"88","author":"Nussinov","year":"1991","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2018.03.022_bib14","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1186\/s12864-016-3028-0","article-title":"G23D: Online tool for mapping and visualization of genomic variants on 3D protein structures","volume":"17","author":"Solomon","year":"2016","journal-title":"BMC Genomics"},{"key":"10.1016\/j.ajhg.2018.03.022_bib15","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1002\/jcc.20084","article-title":"UCSF Chimera--a visualization system for exploratory research and analysis","volume":"25","author":"Pettersen","year":"2004","journal-title":"J.\u00a0Comput. Chem."},{"key":"10.1016\/j.ajhg.2018.03.022_bib16","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1002\/(SICI)1096-987X(199802)19:3<319::AID-JCC6>3.0.CO;2-W","article-title":"Exact and efficient analytical calculation of the accessible surface areas and their\u00a0gradients for macromolecules","volume":"19","author":"Fraczkiewicz","year":"1998","journal-title":"J.\u00a0Comput. Chem."},{"issue":"W1","key":"10.1016\/j.ajhg.2018.03.022_bib17","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gkw408","article-title":"ConSurf 2016: an improved methodology to estimate and visualize evolutionary conservation in macromolecules","volume":"44","author":"Ashkenazy","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2018.03.022_bib18","doi-asserted-by":"crossref","first-page":"2588","DOI":"10.1093\/bioinformatics\/btt447","article-title":"Protein-ligand binding site recognition using complementary binding-specific substructure comparison and sequence profile alignment","volume":"29","author":"Yang","year":"2013","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2018.03.022_bib19","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1038\/nprot.2010.5","article-title":"I-TASSER: a unified platform for automated protein structure and function prediction","volume":"5","author":"Roy","year":"2010","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.ajhg.2018.03.022_bib20","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1007\/978-1-4939-6824-4_24","article-title":"Identification of disease-causing mutations by functional complementation of patient-derived fibroblast cell lines","volume":"1567","author":"Kremer","year":"2017","journal-title":"Methods Mol. Biol."},{"key":"10.1016\/j.ajhg.2018.03.022_bib21","doi-asserted-by":"crossref","first-page":"5767","DOI":"10.1093\/nar\/22.25.5767","article-title":"Regulatable promoters of Saccharomyces cerevisiae: comparison of transcriptional activity and their use for heterologous expression","volume":"22","author":"Mumberg","year":"1994","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2018.03.022_bib22","doi-asserted-by":"crossref","first-page":"16140","DOI":"10.1038\/ncomms16140","article-title":"Erratum: Genetic loci associated with heart rate variability and their effects on cardiac disease risk","volume":"8","author":"Nolte","year":"2017","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2018.03.022_bib23","doi-asserted-by":"crossref","first-page":"6988","DOI":"10.1073\/pnas.0912105107","article-title":"Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration","volume":"107","author":"Rana","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2018.03.022_bib24","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gku340","article-title":"SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information","volume":"42","author":"Biasini","year":"2014","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2018.03.022_bib25","doi-asserted-by":"crossref","first-page":"D387","DOI":"10.1093\/nar\/gkn750","article-title":"The SWISS-MODEL Repository and associated resources","volume":"37","author":"Kiefer","year":"2009","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2018.03.022_bib26","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1093\/bioinformatics\/bti770","article-title":"The\u00a0SWISS-MODEL workspace: a web-based environment for protein structure homology modelling","volume":"22","author":"Arnold","year":"2006","journal-title":"Bioinformatics"},{"issue":"Suppl 1","key":"10.1016\/j.ajhg.2018.03.022_bib27","first-page":"S162","article-title":"Automated comparative protein structure modeling with SWISS-MODEL and Swiss-PdbViewer: a historical perspective","volume":"30","author":"Guex","year":"2009","journal-title":"Electrophoresis"},{"key":"10.1016\/j.ajhg.2018.03.022_bib28","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1016\/0076-6879(91)94023-6","article-title":"In\u00a0vitro mutagenesis and\u00a0plasmid shuffling: from cloned gene to mutant yeast","volume":"194","author":"Sikorski","year":"1991","journal-title":"Methods Enzymol."},{"key":"10.1016\/j.ajhg.2018.03.022_bib29","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1038\/nrm.2016.110","article-title":"Coenzyme A: to make it or uptake it?","volume":"17","author":"Sibon","year":"2016","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.ajhg.2018.03.022_bib30","doi-asserted-by":"crossref","first-page":"3304","DOI":"10.1128\/JB.00334-11","article-title":"Pantethine rescues phosphopantothenoylcysteine synthetase\u00a0and phosphopantothenoylcysteine decarboxylase deficiency in Escherichia coli but not in Pseudomonas aeruginosa","volume":"193","author":"Balibar","year":"2011","journal-title":"J.\u00a0Bacteriol."},{"key":"10.1016\/j.ajhg.2018.03.022_bib31","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1111\/j.1474-9726.2008.00367.x","article-title":"Dystrophin deficiency in Drosophila reduces lifespan and causes a dilated cardiomyopathy phenotype","volume":"7","author":"Taghli-Lamallem","year":"2008","journal-title":"Aging Cell"},{"key":"10.1016\/j.ajhg.2018.03.022_bib32","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.nbd.2015.10.010","article-title":"Knock-down of pantothenate kinase 2 severely affects the development of the nervous and vascular system in zebrafish, providing new insights into PKAN disease","volume":"85","author":"Zizioli","year":"2016","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.ajhg.2018.03.022_bib33","doi-asserted-by":"crossref","first-page":"37660","DOI":"10.1038\/srep37660","article-title":"Down-regulation of coasy, the gene associated with\u00a0NBIA-VI, reduces Bmp signaling, perturbs dorso-ventral patterning and alters neuronal development in zebrafish","volume":"6","author":"Khatri","year":"2016","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ajhg.2018.03.022_bib34","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1523\/JNEUROSCI.4265-04.2005","article-title":"Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by\u00a0abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2","volume":"25","author":"Kotzbauer","year":"2005","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.ajhg.2018.03.022_bib35","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1042\/BST20140094","article-title":"Role of CoA and acetyl-CoA in regulating cardiac fatty acid and glucose oxidation","volume":"42","author":"Abo Alrob","year":"2014","journal-title":"Biochem. Soc. Trans."},{"issue":"6, Suppl","key":"10.1016\/j.ajhg.2018.03.022_bib36","doi-asserted-by":"crossref","first-page":"1652S","DOI":"10.1093\/jn\/136.6.1652S","article-title":"Mammalian cysteine metabolism: new insights into regulation of cysteine metabolism","volume":"136","author":"Stipanuk","year":"2006","journal-title":"J.\u00a0Nutr."},{"key":"10.1016\/j.ajhg.2018.03.022_bib37","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1038\/nchembio.1906","article-title":"Extracellular 4\u2032-phosphopantetheine is a source for intracellular coenzyme A synthesis","volume":"11","author":"Srinivasan","year":"2015","journal-title":"Nat. Chem. Biol."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929718301113?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929718301113?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T10:17:37Z","timestamp":1762078657000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929718301113"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6]]},"references-count":37,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2018,6]]}},"alternative-id":["S0002929718301113"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2018.03.022","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2018,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2018.03.022","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}