Nature Communications (May 2016)
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia
- 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
Affiliations
- Karin Tuschl
- Genetics and Genomic Medicine, UCL Institute of Child Health, University College London
- Esther Meyer
- Developmental Neurosciences, UCL Institute of Child Health, University College London,
- Leonardo E. Valdivia
- Department of Cell and Developmental Biology, University College London
- Ningning Zhao
- Department of Cell, Development and Cancer Biology, Oregon Health & Sciences University
- Chris Dadswell
- Department of Chemistry, School of Life Sciences, University of Sussex
- Alaa Abdul-Sada
- Department of Chemistry, School of Life Sciences, University of Sussex
- Christina Y. Hung
- Division of Genetics and Genomics, Department of Medicine, Boston Children’s Hospital and Harvard Medical School
- Michael A. Simpson
- Division of Genetics and Molecular Medicine, King’s College London School of Medicine
- W. K. Chong
- Department of Radiology, Great Ormond Street Hospital for Children NHS Trust
- Thomas S. Jacques
- UCL Institute of Child Health and Department of Histopathology, Developmental Biology and Cancer, Great Ormond Street Hospital for Children NHS Trust
- Randy L. Woltjer
- Department of Pathology, Oregon Health & Science University
- Simon Eaton
- Developmental Biology and Cancer Programme, UCL Institute of Child Health, University College London
- Allison Gregory
- Department of Molecular & Medical Genetics, Oregon Health & Science University
- Lynn Sanford
- Department of Molecular & Medical Genetics, Oregon Health & Science University
- Eleanna Kara
- Institute of Neurology, University College London
- Henry Houlden
- Institute of Neurology, University College London
- Stephan M. Cuno
- Institute of Human Genetics, Technische Universität München
- Holger Prokisch
- Institute of Human Genetics, Technische Universität München
- Lorella Valletta
- Unit of Molecular Neurogenetics, IRCCS, Foundation Neurological Institute ‘C. Besta’
- Valeria Tiranti
- Unit of Molecular Neurogenetics, IRCCS, Foundation Neurological Institute ‘C. Besta’
- Rasha Younis
- Department of Medical and Molecular Genetics, University of Birmingham
- Eamonn R. Maher
- Centre for Rare Diseases and Personalised Medicine, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham
- John Spencer
- Department of Chemistry, School of Life Sciences, University of Sussex
- Ania Straatman-Iwanowska
- MRC Laboratory for Molecular Cell Biology and Cell Biology Unit, University College London
- Paul Gissen
- Genetics and Genomic Medicine, UCL Institute of Child Health, University College London
- Laila A. M. Selim
- Department of Paediatric Neurology, Faculty of Medicine, Cairo University Children’s Hospital
- Guillem Pintos-Morell
- Department of Paediatrics, Section of Paediatric Nephrology, Genetics and Metabolism, Unit of Rare Diseases, University Hospital ‘Germans Trias I Pujol’, Universitat Autònoma de Barcelona
- Wifredo Coroleu-Lletget
- Department of Paediatrics, Paediatric Neurology and Neonatology Unit, University Hospital ‘Germans Trias I Pujol’
- Shekeeb S. Mohammad
- Neuroimmunology Group, Institute for Neuroscience and Muscle Research, Kids Research Institute at the Children’s Hospital at Westmead, University of Sydney
- Sangeetha Yoganathan
- Department of Neurological Sciences, Christian Medical College Hospital
- Russell C. Dale
- Neuroimmunology Group, Institute for Neuroscience and Muscle Research, Kids Research Institute at the Children’s Hospital at Westmead, University of Sydney
- Maya Thomas
- Department of Neurological Sciences, Christian Medical College Hospital
- Jason Rihel
- Department of Cell and Developmental Biology, University College London
- Olaf A. Bodamer
- Division of Genetics and Genomics, Department of Medicine, Boston Children’s Hospital and Harvard Medical School
- Caroline A. Enns
- Department of Cell, Development and Cancer Biology, Oregon Health & Sciences University
- Susan J. Hayflick
- Department of Molecular & Medical Genetics, Oregon Health & Science University
- Peter T. Clayton
- Genetics and Genomic Medicine, UCL Institute of Child Health, University College London
- Philippa B. Mills
- Genetics and Genomic Medicine, UCL Institute of Child Health, University College London
- Manju A. Kurian
- Developmental Neurosciences, UCL Institute of Child Health, University College London,
- Stephen W. Wilson
- Department of Cell and Developmental Biology, University College London
- DOI
- https://doi.org/10.1038/ncomms11601
- Journal volume & issue
-
Vol. 7,
no. 1
pp. 1 – 16
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.
