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Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

Authors :
Karin Tuschl
Esther Meyer
Leonardo E. Valdivia
Ningning Zhao
Chris Dadswell
Alaa Abdul-Sada
Christina Y. Hung
Michael A. Simpson
W. K. Chong
Thomas S. Jacques
Randy L. Woltjer
Simon Eaton
Allison Gregory
Lynn Sanford
Eleanna Kara
Henry Houlden
Stephan M. Cuno
Holger Prokisch
Lorella Valletta
Valeria Tiranti
Rasha Younis
Eamonn R. Maher
John Spencer
Ania Straatman-Iwanowska
Paul Gissen
Laila A. M. Selim
Guillem Pintos-Morell
Wifredo Coroleu-Lletget
Shekeeb S. Mohammad
Sangeetha Yoganathan
Russell C. Dale
Maya Thomas
Jason Rihel
Olaf A. Bodamer
Caroline A. Enns
Susan J. Hayflick
Peter T. Clayton
Philippa B. Mills
Manju A. Kurian
Stephen W. Wilson
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

Subjects :
Science

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