Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia
- Submitting institution
-
University of Sussex
- Unit of assessment
- 8 - Chemistry
- Output identifier
- 74501_61189
- Type
- D - Journal article
- DOI
-
10.1038/ncomms11601
- Title of journal
- Nature Communications
- Article number
- a11601
- First page
- -
- Volume
- 7
- Issue
- 1
- ISSN
- 2041-1723
- Open access status
- Compliant
- Month of publication
- May
- Year of publication
- 2016
- URL
-
http://dx.doi.org/10.1038/ncomms11601
- Supplementary information
-
-
- Request cross-referral to
- -
- Output has been delayed by COVID-19
- No
- COVID-19 affected output statement
- -
- Forensic science
- No
- Criminology
- No
- Interdisciplinary
- No
- Number of additional authors
-
39
- Research group(s)
-
-
- Citation count
- 114
- Proposed double-weighted
- No
- Reserve for an output with double weighting
- No
- Additional information
- Johnn Spencer assembled and coordinated a small team at Sussex (Dadswell, Abdul-Sada) who studied the chemical and analytical aspects in this work. John Spencer was involved in the assessment of plasma manganese metal levels, vs Fe, Cu, Cd ions, in patients harbouring the SLC39A14 mutation vs control patients. The analytical chemistry efforts utilised ICP-MS metal ion analyses and John Spencer was also involved in functional analysis and data interpretation as well as making critical comments on the manuscript and the chemical experimental section.
- Author contribution statement
- -
- Non-English
- No
- English abstract
- -
