Associated Papers
Molecular mechanisms of SLC30A10-mediated manganese transport.
Shen X et al.
Nature Communications, 2025
41022720 (PubMed )
Supplement: 41467_2025_63616_MOESM1_ESM.pdf
Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2.
Fang S et al.
Journal of Inherited Metabolic Disease, 2025
40320765 (PubMed )
Supplement: JIMD-48-0-s001.xlsx › Sheet1
Exome Sequence Analysis to Characterize Undiagnosed Family Segregating Motor Impairment and Dystonia.
Almatrafi AM et al.
Journal of Clinical Medicine, 2024
AAV-mediated hepatic expression of SLC30A10 and the Thr95Ile variant attenuates manganese excess and other phenotypes in Slc30a10-deficient mice.
Prajapati M et al.
The Journal of Biological Chemistry, 2024
GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms.
Ward LD et al.
Nature Communications, 2021
Genetic Disorders of Manganese Metabolism.
Anagianni S et al.
Current Neurology and Neuroscience Reports, 2019
Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man.
Tuschl K et al.
American Journal of Human Genetics, 2016
SLC30A10 is a cell surface-localized manganese efflux transporter, and parkinsonism-causing mutations block its intracellular trafficking and efflux activity.
Leyva-Illades D et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2014
Current understanding of ZIP and ZnT zinc transporters in human health and diseases.
Kambe T et al.
Cellular and Molecular Life Sciences : Cmls, 2014
Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.
Tuschl K et al.
American Journal of Human Genetics, 2012
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