| http://purl.uniprot.org/citations/27231142 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27231142 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27231142 | http://www.w3.org/2000/01/rdf-schema#comment | "Although manganese is an essential trace metal, little is known about its transport and homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal recessive manganese transporter defect caused by mutations in SLC39A14. Excessive accumulation of manganese in these patients results in rapidly progressive childhood-onset parkinsonism-dystonia with distinctive brain magnetic resonance imaging appearances and neurodegenerative features on post-mortem examination. We show that mutations in SLC39A14 impair manganese transport in vitro and lead to manganese dyshomeostasis and altered locomotor activity in zebrafish with CRISPR-induced slc39a14 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."xsd:string |
| http://purl.uniprot.org/citations/27231142 | http://purl.org/dc/terms/identifier | "doi:10.1038/ncomms11601"xsd:string |
| http://purl.uniprot.org/citations/27231142 | http://purl.org/dc/terms/identifier | "doi:10.1038/ncomms11601"xsd:string |
| http://purl.uniprot.org/citations/27231142 | http://purl.uniprot.org/core/author | "Zhao N."xsd:string |
| http://purl.uniprot.org/citations/27231142 | http://purl.uniprot.org/core/author | "Zhao N."xsd:string |
| http://purl.uniprot.org/citations/27231142 | http://purl.uniprot.org/core/author | "Meyer E."xsd:string |
| http://purl.uniprot.org/citations/27231142 | http://purl.uniprot.org/core/author | "Meyer E."xsd:string |
| http://purl.uniprot.org/citations/27231142 | http://purl.uniprot.org/core/author | "Simpson M.A."xsd:string |
| http://purl.uniprot.org/citations/27231142 | http://purl.uniprot.org/core/author | "Simpson M.A."xsd:string |
| http://purl.uniprot.org/citations/27231142 | http://purl.uniprot.org/core/author | "Houlden H."xsd:string |
| http://purl.uniprot.org/citations/27231142 | http://purl.uniprot.org/core/author | "Houlden H."xsd:string |
| http://purl.uniprot.org/citations/27231142 | http://purl.uniprot.org/core/author | "Thomas M."xsd:string |
| http://purl.uniprot.org/citations/27231142 | http://purl.uniprot.org/core/author | "Thomas M."xsd:string |
| http://purl.uniprot.org/citations/27231142 | http://purl.uniprot.org/core/author | "Prokisch H."xsd:string |
| http://purl.uniprot.org/citations/27231142 | http://purl.uniprot.org/core/author | "Prokisch H."xsd:string |
| http://purl.uniprot.org/citations/27231142 | http://purl.uniprot.org/core/author | "Maher E.R."xsd:string |
| http://purl.uniprot.org/citations/27231142 | http://purl.uniprot.org/core/author | "Maher E.R."xsd:string |
| http://purl.uniprot.org/citations/27231142 | http://purl.uniprot.org/core/author | "Clayton P.T."xsd:string |
| http://purl.uniprot.org/citations/27231142 | http://purl.uniprot.org/core/author | "Clayton P.T."xsd:string |
| http://purl.uniprot.org/citations/27231142 | http://purl.uniprot.org/core/author | "Kurian M.A."xsd:string |
| http://purl.uniprot.org/citations/27231142 | http://purl.uniprot.org/core/author | "Kurian M.A."xsd:string |
| http://purl.uniprot.org/citations/27231142 | http://purl.uniprot.org/core/author | "Sanford L."xsd:string |
| http://purl.uniprot.org/citations/27231142 | http://purl.uniprot.org/core/author | "Sanford L."xsd:string |