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Here we have identified a cohort of patients with a novel autosomal recessive manganese transporter defect caused by mutations in\n                    <jats:italic>SLC39A14.<\/jats:italic>\n                    Excessive accumulation of manganese in these patients results in rapidly progressive childhood-onset parkinsonism\u2013dystonia with distinctive brain magnetic resonance imaging appearances and neurodegenerative features on post-mortem examination. We show that mutations in\n                    <jats:italic>SLC39A14<\/jats:italic>\n                    impair manganese transport\n                    <jats:italic>in vitro<\/jats:italic>\n                    and lead to manganese dyshomeostasis and altered locomotor activity in zebrafish with CRISPR-induced\n                    <jats:italic>slc39a14<\/jats:italic>\n                    null mutations. Chelation with disodium calcium edetate lowers blood manganese levels in patients and can lead to striking clinical improvement. Our results demonstrate that SLC39A14 functions as a pivotal manganese transporter in vertebrates.\n                  <\/jats:p>","DOI":"10.1038\/ncomms11601","type":"journal-article","created":{"date-parts":[[2016,5,27]],"date-time":"2016-05-27T05:32:32Z","timestamp":1464327152000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":304,"title":["Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism\u2013dystonia"],"prefix":"10.1038","volume":"7","author":[{"given":"Karin","family":"Tuschl","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Meyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonardo E.","family":"Valdivia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ningning","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris","family":"Dadswell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alaa","family":"Abdul-Sada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina Y.","family":"Hung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael A.","family":"Simpson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W. 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