Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia
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Author / Creator
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 , Valletta, Lorella , Tiranti, Valeria , Younis, Rasha , Maher, Eamonn R. , Spencer, John , Straatman-Iwanowska, Ania , Gissen, Paul , Selim, Laila A. M. , Pintos-Morell, Guillem , Coroleu-Lletget, Wifredo , Mohammad, Shekeeb S. , Yoganathan, Sangeetha , Dale, Russell C. , Thomas, Maya , Rihel, Jason , Bodamer, Olaf A. , Enns, Caroline A. , Hayflick, Susan J. , Clayton, Peter T. , Mills, Philippa B. , Kurian, Manju A. and Wilson, Stephen W.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publisher
London: Nature Publishing Group UK
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Contents
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 childho...
Alternative Titles
Full title
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia
Authors, Artists and Contributors
Author / Creator
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
Valletta, Lorella
Tiranti, Valeria
Younis, Rasha
Maher, Eamonn R.
Spencer, John
Straatman-Iwanowska, Ania
Gissen, Paul
Selim, Laila A. M.
Pintos-Morell, Guillem
Coroleu-Lletget, Wifredo
Mohammad, Shekeeb S.
Yoganathan, Sangeetha
Dale, Russell C.
Thomas, Maya
Rihel, Jason
Bodamer, Olaf A.
Enns, Caroline A.
Hayflick, Susan J.
Clayton, Peter T.
Mills, Philippa B.
Kurian, Manju A.
Wilson, Stephen W.
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_122cc65e3ed24026b35cd38223a5fe6b
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_122cc65e3ed24026b35cd38223a5fe6b
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/ncomms11601
