Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia
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 impairme...
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Nature Portfolio
2016
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oai:doaj.org-article:122cc65e3ed24026b35cd38223a5fe6b2021-12-02T14:38:57ZMutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia10.1038/ncomms116012041-1723https://doaj.org/article/122cc65e3ed24026b35cd38223a5fe6b2016-05-01T00:00:00Zhttps://doi.org/10.1038/ncomms11601https://doaj.org/toc/2041-1723Karin 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.Karin TuschlEsther MeyerLeonardo E. ValdiviaNingning ZhaoChris DadswellAlaa Abdul-SadaChristina Y. HungMichael A. SimpsonW. K. ChongThomas S. JacquesRandy L. WoltjerSimon EatonAllison GregoryLynn SanfordEleanna KaraHenry HouldenStephan M. CunoHolger ProkischLorella VallettaValeria TirantiRasha YounisEamonn R. MaherJohn SpencerAnia Straatman-IwanowskaPaul GissenLaila A. M. SelimGuillem Pintos-MorellWifredo Coroleu-LletgetShekeeb S. MohammadSangeetha YoganathanRussell C. DaleMaya ThomasJason RihelOlaf A. BodamerCaroline A. EnnsSusan J. HayflickPeter T. ClaytonPhilippa B. MillsManju A. KurianStephen W. WilsonNature PortfolioarticleScienceQENNature Communications, Vol 7, Iss 1, Pp 1-16 (2016) |
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DOAJ |
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EN |
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Science Q |
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Science Q 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 Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia |
| description |
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. |
| format |
article |
| author |
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 |
| author_facet |
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 |
| author_sort |
Karin Tuschl |
| title |
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia |
| title_short |
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia |
| title_full |
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia |
| title_fullStr |
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia |
| title_full_unstemmed |
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia |
| title_sort |
mutations in slc39a14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia |
| publisher |
Nature Portfolio |
| publishDate |
2016 |
| url |
https://doaj.org/article/122cc65e3ed24026b35cd38223a5fe6b |
| work_keys_str_mv |
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