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

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

Published:2016-05-27 Issue:1 Volume:7 Page:
ISSN:2041-1723
Container-title:Nature Communications
language:en
Short-container-title:Nat Commun

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry

Link

http://www.nature.com/articles/ncomms11601.pdf

Reference66 articles.

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2. Santos, D. et al. Manganese alters rat brain amino acids levels. Biol. Trace Elem. Res. 150, 337–341 (2012).

3. Erikson, K. M., Thompson, K., Aschner, J. & Aschner, M. Manganese neurotoxicity: a focus on the neonate. Pharmacol. Ther. 113, 369–377 (2007).

4. Park, J. H. et al. SLC39A8 deficiency: a disorder of manganese transport and glycosylation. Am. J. Hum. Genet. 97, 894–903 (2015).

5. Boycott, K. M. et al. Autosomal-recessive intellectual disability with cerebellar atrophy syndrome caused by mutation of the manganese and zinc transporter gene SLC39A8. Am. J. Hum. Genet. 97, 886–893 (2015).

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