{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T22:57:42Z","timestamp":1792623462879,"version":"4.5.0"},"reference-count":23,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,11,24]],"date-time":"2019-11-24T00:00:00Z","timestamp":1574553600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007388","name":"Compagnia di San Paolo","doi-asserted-by":"publisher","award":["6\u2010CSP\u2010UNINA\u2010120"],"award-info":[{"award-number":["6\u2010CSP\u2010UNINA\u2010120"]}],"id":[{"id":"10.13039\/100007388","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GGP15113"],"award-info":[{"award-number":["GGP15113"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The development of patient\u2010specific induced pluripotent stem cells (iPSCs) offered interesting insights in modeling the pathogenesis of Charcot\u2010Marie\u2010Tooth (CMT) disease and thus we decided to explore the phenotypes of iPSCs derived from a single CMT patient carrying a mutant <jats:italic>ATP1A1<\/jats:italic> allele (p.Pro600Ala). iPSCs clones generated from CMT and control fibroblasts, were induced to differentiate into neural precursors and then into post\u2010mitotic neurons. Control iPSCs differentiated into neuronal precursors and then into post\u2010mitotic neurons within 6\u20108\u2009days. On the contrary, the differentiation of CMT iPSCs was clearly defective. Electrophysiological properties confirmed that post\u2010mitotic neurons were less mature compared to the normal counterpart. The impairment of in vitro differentiation of CMT iPSCs only concerned with the neuronal pathway, because they were able to differentiate into mesendodermal cells and other ectodermal derivatives. ATP1A1 was undetectable in the few neuronal cells derived from CMT iPSCs. <jats:italic>ATP1A1<\/jats:italic> gene mutation (p.Pro600Ala), responsible for a form of axonal CMT disease, is associated in vitro with a dramatic alteration of the differentiation of patient\u2010derived iPSCs into post\u2010mitotic neurons. Thus, the defect in neuronal cell development might lead in vivo to a decreased number of mature neurons in ATP1A1\u2010CMT disease.<\/jats:p>","DOI":"10.1111\/jns.12357","type":"journal-article","created":{"date-parts":[[2019,11,10]],"date-time":"2019-11-10T06:53:41Z","timestamp":1573368821000},"page":"330-339","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Insights into the pathogenesis of <i>ATP1A1<\/i>\u2010related CMT disease using patient\u2010specific iPSCs"],"prefix":"10.1111","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9478-3744","authenticated-orcid":false,"given":"Fiore","family":"Manganelli","sequence":"first","affiliation":[{"name":"Department of Neuroscience, Reproductive Sciences and Odontostomatology University of Naples \u201cFederico II\u201d  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Parisi","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnologies University of Naples \u201cFederico II\u201d  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Nolano","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Reproductive Sciences and Odontostomatology University of Naples \u201cFederico II\u201d  Naples Italy"},{"name":"Department of Neurology Istituti Clinici Scientifici Maugeri IRCCS, SpA SB  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Miceli","sequence":"additional","affiliation":[{"name":"Section of Pharmacology, Department of Neuroscience, Reproductive Sciences and Odontostomatology University of Naples \u201cFederico II\u201d  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Tozza","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Reproductive Sciences and Odontostomatology University of Naples \u201cFederico II\u201d  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Pisciotta","sequence":"additional","affiliation":[{"name":"Rare Neurodegenerative and Neurometabolic Disease Unit Fondazione IRCCS Istituto Neurologico Carlo Besta  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa","family":"Iodice","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Reproductive Sciences and Odontostomatology University of Naples \u201cFederico II\u201d  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1230-942X","authenticated-orcid":false,"given":"Vincenzo","family":"Provitera","sequence":"additional","affiliation":[{"name":"Department of Neurology Istituti Clinici Scientifici Maugeri IRCCS, SpA SB  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Cicatiello","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnologies University of Naples \u201cFederico II\u201d  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Zuchner","sequence":"additional","affiliation":[{"name":"Dr. John T. 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