ReviewCurrent neurology and neuroscience reports2019
Genetic Disorders of Manganese Metabolism.
Review in Current neurology and neuroscience reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers, 4 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
71 citing papers in PubMed, 4 syntheses or guidelines pooled it, 115 citations in OpenAlex.
- Cross-ancestry genome-wide association studies of liver function biomarkers uncover pleiotropic variants, systemic disease links and therapeutic targets.Genome medicine · 2026Pooled it
- The genetic architecture of brainstem structures.Nature communications · 2025Pooled it
- Manganese-derived biomaterials for tumor diagnosis and therapy.Journal of nanobiotechnology · 2024Pooled it
- The Role of Selected Trace Elements in Oxidoreductive Homeostasis in Patients with Thyroid Diseases.International journal of molecular sciences · 2023Pooled it
- The SLC-ome of membrane transport: from molecular discovery to physiology and clinical applications.Physiological reviews · 2026Review
- Manganese: biology, physiology and role in disease.Cell discovery · 2026Review
- Overlaps in mammalian iron and manganese homeostasis: recent advances.Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine · 2026Review
- Pediatric Case Series with Early-Onset Dystonia: Clinical Clues of Inherited Manganese Transporter Defects.Annals of Indian Academy of Neurology · 2026Article
- Allosteric modulation of the solute carrier transporter SLC39A8 potentiates manganese and cadmium uptake.The Journal of clinical investigation · 2025Article
- Removal of Toxic Metabolites-Chelation: Manganese Disorders.Journal of inherited metabolic disease · 2025Review
- Consequences of Dietary Manganese Deficiency or MnNutrients · 2025Article
- Advances in Mammalian Metallomics: New Insights into Metal Dynamics and Biological Significance.International journal of molecular sciences · 2025Review
- Molecular mechanisms of SLC30A10-mediated manganese transport.Nature communications · 2025Article
- Mitochondrially Transcribed dsRNA Mediates Manganese-induced Neuroinflammation.bioRxiv : the preprint server for biology · 2025Article
- Data- and knowledge-derived functional landscape of human solute carriers.Molecular systems biology · 2025Article
- Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2.Journal of inherited metabolic disease · 2025Article
- Role of manganese in brain health and disease: Focus on oxidative stress.Free radical biology & medicine · 2025Review
- Improvement of Motor Function in SLC39A8-Related Ataxia Through Manganese Supplementation: A Therapeutic Insight.Movement disorders clinical practice · 2025Article
- Manganese Neurotoxicity: A Comprehensive Review of Pathophysiology and Inherited and Acquired Disorders.Journal of xenobiotics · 2025Review
- Human genetic variants in SLC39A8 impact uptake and steady-state metal levels within the cell.Life science alliance · 2025Article
11 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
purpose of reviewThis article provides an overview of the pathogenesis, clinical presentation and treatment of inherited manganese transporter defects. RECENT
findingsIdentification of a new group of manganese transportopathies has greatly advanced our understanding of how manganese homeostasis is regulated in vivo. While the manganese efflux transporter SLC30A10 and the uptake transporter SLC39A14 work synergistically to reduce the manganese load, SLC39A8 has an opposing function facilitating manganese uptake into the organism. Bi-allelic mutations in any of these transporter proteins disrupt the manganese equilibrium and lead to neurological disease: Hypermanganesaemia with dystonia 1 (SLC30A10 deficiency) and hypermanganesaemia with dystonia 2 (SLC39A14 deficiency) are characterised by manganese neurotoxicity while SLC39A8 mutations cause a congenital disorder of glycosylation type IIn due to Mn deficiency. Inherited manganese transporter defects are an important differential diagnosis of paediatric movement disorders. Manganese blood levels and MRI brain are diagnostic and allow early diagnosis to avoid treatment delay.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.