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Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia
- Source :
- Nature Communications, Vol 7, Iss 1, Pp 1-16 (2016)
- Publication Year :
- 2016
- Publisher :
- Nature Portfolio, 2016.
-
Abstract
- Karin Tuschl, Philippa Mills and colleagues report mutations in the manganese (Mn) transporter gene SLC39A14in childhood-onset parkinsonism-dystonia. Using functional recapitulation, the authors also show that slc39A14 loss-of-function in zebrafish can lead to Mn dysregulation and locomotor impairment.
- Subjects :
- Science
Subjects
Details
- Language :
- English
- ISSN :
- 20411723
- Volume :
- 7
- Issue :
- 1
- Database :
- Directory of Open Access Journals
- Journal :
- Nature Communications
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.122cc65e3ed24026b35cd38223a5fe6b
- Document Type :
- article
- Full Text :
- https://doi.org/10.1038/ncomms11601