{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T22:35:30Z","timestamp":1789166130750,"version":"build-2803163510"},"reference-count":42,"publisher":"The Company of Biologists","issue":"2","license":[{"start":{"date-parts":[[2021,2,9]],"date-time":"2021-02-09T00:00:00Z","timestamp":1612828800000},"content-version":"vor","delay-in-days":393,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP1007705"],"award-info":[{"award-number":["APP1007705"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["MDA217729"],"award-info":[{"award-number":["MDA217729"]}],"id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001774","name":"University of Sydney","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001774","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,2,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:p>ATP7A encodes a copper-transporting P-type ATPase and is one of 23 genes in which mutations produce distal hereditary motor neuropathy (dHMN), a group of diseases characterized by length-dependent axonal degeneration of motor neurons. We have generated induced pluripotent stem cell (iPSC)-derived motor neurons from a patient with the p.T994I ATP7A gene mutation as an in vitro model for X-linked dHMN (dHMNX). Patient motor neurons show a marked reduction of ATP7A protein levels in the soma when compared to control motor neurons and failed to upregulate expression of ATP7A under copper-loading conditions. These results recapitulate previous findings obtained in dHMNX patient fibroblasts and in primary cells from a rodent model of dHMNX, indicating that patient iPSC-derived motor neurons will be an important resource for studying the role of copper in the pathogenic processes that lead to axonal degeneration in dHMNX.<\/jats:p>","DOI":"10.1242\/dmm.041541","type":"journal-article","created":{"date-parts":[[2020,1,13]],"date-time":"2020-01-13T13:45:28Z","timestamp":1578923128000},"source":"Crossref","is-referenced-by-count":12,"title":["Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs"],"prefix":"10.1242","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1010-6445","authenticated-orcid":false,"given":"Gonzalo","family":"Perez-Siles","sequence":"first","affiliation":[{"name":"ANZAC Research Institute 1 Northcott Neuroscience Laboratory , , Sydney, 2139 NSW , Australia"},{"name":"Sydney Medical School, University of Sydney 2 , Sydney, 2050 NSW , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony","family":"Cutrupi","sequence":"additional","affiliation":[{"name":"ANZAC Research Institute 1 Northcott Neuroscience Laboratory , , Sydney, 2139 NSW , Australia"},{"name":"Sydney Medical School, University of Sydney 2 , Sydney, 2050 NSW , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melina","family":"Ellis","sequence":"additional","affiliation":[{"name":"ANZAC Research Institute 1 Northcott Neuroscience Laboratory , , Sydney, 2139 NSW , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jakob","family":"Kuriakose","sequence":"additional","affiliation":[{"name":"School of Life Sciences, University of Technology Sydney 3 , Sydney, 2007 NSW , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon","family":"La Fontaine","sequence":"additional","affiliation":[{"name":"Centre for Cellular and Molecular Biology, School of Life and Environmental Sciences, Deakin University 4 , Burwood, 3125 VIC , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Di","family":"Mao","sequence":"additional","affiliation":[{"name":"Institute for Integrated Cell-Material Sciences and Institute for Chemical Research, Kyoto University, Kyoto 606-8302 5 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Motonari","family":"Uesugi","sequence":"additional","affiliation":[{"name":"Institute for Integrated Cell-Material Sciences and Institute for Chemical Research, Kyoto University, Kyoto 606-8302 5 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reinaldo I.","family":"Takata","sequence":"additional","affiliation":[{"name":"Sarah Network Rehabilitation Hospitals 6 , Brasilia, 70297-400 DF , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos E.","family":"Speck-Martins","sequence":"additional","affiliation":[{"name":"Sarah Network Rehabilitation Hospitals 6 , Brasilia, 70297-400 DF , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Garth","family":"Nicholson","sequence":"additional","affiliation":[{"name":"ANZAC Research Institute 1 Northcott Neuroscience Laboratory , , Sydney, 2139 NSW , Australia"},{"name":"Sydney Medical School, University of Sydney 2 , Sydney, 2050 NSW , Australia"},{"name":"Concord Repatriation General Hospital 7 Molecular Medicine Laboratory , , Sydney, 2139 NSW , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3332-5074","authenticated-orcid":false,"given":"Marina L.","family":"Kennerson","sequence":"additional","affiliation":[{"name":"ANZAC Research Institute 1 Northcott Neuroscience Laboratory , , Sydney, 2139 NSW , Australia"},{"name":"Sydney Medical School, University of Sydney 2 , Sydney, 2050 NSW , Australia"},{"name":"Concord Repatriation General Hospital 7 Molecular Medicine Laboratory , , Sydney, 2139 NSW , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2020,1,13]]},"reference":[{"key":"2024061302420711100_DMM041541C42","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1038\/nbt.1529","article-title":"Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling","volume":"27","author":"Chambers","year":"2009","journal-title":"Nat. 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