Raras
Buscar doenças, sintomas, genes...
Alteração do transporte de manganês
ORPHA:309851DOENÇA RARA

O alumínio é um elemento químico de símbolo Al e número atómico 13 (treze prótons e treze elétrons). O alumínio tem uma densidade mais baixa do que outros metais comuns; aproximadamente um terço do aço. Apresenta uma elevada afinidade pelo oxigénio, formando uma camada protetora de óxido na superfície quando exposto ao ar. O alumínio é visualmente semelhante à prata, tanto pela sua cor como pela sua grande capacidade de refletir a luz. É mole, não magnético e dúctil. Possui um isótopo estável: o Al27, que é muito abundante, fazendo do alumínio o décimo segundo elemento mais comum no universo.

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Introdução

O que você precisa saber de cara

📋

Doença rara causada por mutações nos genes SLC30A10 ou SLC39A14, afetando o transporte de manganês. Manifesta-se com parkinsonismo, tremor, discinesia, anormalidades hepáticas (cirrose) e alterações neurológicas como marcha em tesoura e reflexos exaltados.

Publicações científicas
7 artigos
Último publicado: 2018 Apr
🏥
SUS: Sem cobertura SUSScore: 0%
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
23 sintomas
🫃
Digestivo
9 sintomas
💪
Músculos
7 sintomas
🩸
Sangue
3 sintomas
🦴
Ossos e articulações
3 sintomas
🧬
Pele e cabelo
1 sintomas

+ 40 sintomas em outras categorias

Características mais comuns

Tremor
Anormalidade do fígado
Marcha em tesoura
Anormalidade do metabolismo de aminoácidos
Parkinsonismo
Perda da deambulação
88sintomas
Sem dados (88)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 88 características clínicas mais associadas, ordenadas por frequência.

Tremor
Anormalidade do fígadoAbnormality of the liver
Marcha em tesouraScissor gait
Anormalidade do metabolismo de aminoácidosAbnormality of amino acid metabolism
ParkinsonismoParkinsonism

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa5
Total histórico7PubMed
Últimos 10 anos200publicações
Pico202559 papers
Linha do tempo
2021Hoje · 2026🧪 2018Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

2 genes identificados com associação a esta condição.

SLC30A10Calcium/manganese antiporter SLC30A10Disease-causing germline mutation(s) inRestrito
FUNÇÃO

Calcium:manganese antiporter of the plasma membrane mediating the efflux of intracellular manganese coupled to an active extracellular calcium exchange (PubMed:30755481). Required for intracellular manganese homeostasis, an essential cation for the function of several enzymes, including some crucially important for the metabolism of neurotransmitters and other neuronal metabolic pathways. Manganese can also be cytotoxic and induce oxidative stress, mitochondrial dysfunction and apoptosis (PubMed

LOCALIZAÇÃO

Cell membraneGolgi apparatus membraneRecycling endosome membraneEarly endosome membrane

VIAS BIOLÓGICAS (1)
Metal ion SLC transporters
MECANISMO DE DOENÇA

Hypermanganesemia with dystonia 1

A metabolic autosomal recessive disorder characterized by dystonia, parkinsonism, extrapyramidal signs, severe hypermanganesemia, polycythemia, and chronic hepatic disease, including steatosis and cirrhosis.

EXPRESSÃO TECIDUAL(Tecido-específico)
Fígado
12.8 TPM
Brain Anterior cingulate cortex BA24
2.8 TPM
Córtex cerebral
2.7 TPM
Hipotálamo
2.6 TPM
Brain Nucleus accumbens basal ganglia
2.6 TPM
OUTRAS DOENÇAS (1)
cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
HGNC:25355UniProt:Q6XR72
SLC39A14Metal cation symporter ZIP14Disease-causing germline mutation(s) inModerado
FUNÇÃO

Electroneutral transporter of the plasma membrane mediating the cellular uptake of the divalent metal cations zinc, manganese and iron that are important for tissue homeostasis, metabolism, development and immunity (PubMed:15642354, PubMed:27231142, PubMed:29621230). Functions as an energy-dependent symporter, transporting through the membranes an electroneutral complex composed of a divalent metal cation and two bicarbonate anions (By similarity). Beside these endogenous cellular substrates, ca

LOCALIZAÇÃO

Cell membraneApical cell membraneBasolateral cell membraneEarly endosome membraneLate endosome membraneLysosome membrane

VIAS BIOLÓGICAS (1)
Zinc influx into cells by the SLC39 gene family
MECANISMO DE DOENÇA

Hypermanganesemia with dystonia 2

A metabolic autosomal recessive disorder characterized by increased blood manganese levels, neurodegeneration, and rapidly progressive parkinsonism and dystonia. Affected individuals present with loss of developmental milestones, progressive dystonia and bulbar dysfunction in infancy or early childhood. Towards the end of the first decade, they manifest severe generalized pharmacoresistant dystonia, spasticity, limb contractures and scoliosis, and loss of independent ambulation. Cognition may be impaired, but is better preserved than motor function.

EXPRESSÃO TECIDUAL(Ubíquo)
Fígado
276.4 TPM
Pâncreas
112.8 TPM
Tireoide
101.4 TPM
Aorta
80.7 TPM
Fibroblastos
78.4 TPM
OUTRAS DOENÇAS (2)
hypermanganesemia with dystonia 2hyperostosis cranialis interna
HGNC:20858UniProt:Q15043

Variantes genéticas (ClinVar)

175 variantes patogênicas registradas no ClinVar.

🧬 SLC30A10: NM_018713.3(SLC30A10):c.222C>G (p.Tyr74Ter) ()
🧬 SLC30A10: NM_018713.3(SLC30A10):c.446G>A (p.Ser149Asn) ()
🧬 SLC30A10: GRCh37/hg19 1q21.1-44(chr1:143932350-249224684)x3 ()
🧬 SLC30A10: GRCh37/hg19 1q41(chr1:218253812-223932158)x1 ()
🧬 SLC30A10: NM_018713.3(SLC30A10):c.641-59T>G ()
Ver todas no ClinVar

Vias biológicas (Reactome)

2 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
1Fase 11
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
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Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Alteração do transporte de manganês

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Selecione um estado ou use sua localização para ver resultados.

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Ensaios clínicos abertos e novidades científicas recentes

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Neuron-specific modulation of SLC30A10 identifies dopaminergic and glutamatergic neurons as targets of manganese-induced motor disease.

Proceedings of the National Academy of Sciences of the United States of America2026 Feb 10

Essential metals accumulate in the basal ganglia at elevated levels and induce incurable motor disease. But, unlike other motor diseases, the neuronal targets of essential metals are unknown, and this fundamental knowledge gap has limited therapeutic progress. Because metal efflux transporters have high specificity, we hypothesized that neuron-specific knockout or knockin (i.e., overexpression) of efflux transporters may alter metal levels in targeted neurons and define the neuronal targets of metal-induced disease. To test this, we focused on manganese (Mn)-induced motor disease, which is a public health problem. We generated six neuron-specific Slc30a10 mouse strains with knockout or knockin of the Mn efflux transporter Slc30a10 in dopaminergic, GABAergic, or glutamatergic neurons. In the knockout strains, SLC30A10 was depleted and Mn levels were elevated in targeted brain regions. However, only dopaminergic- or glutamatergic-, but not GABAergic-, specific knockouts developed motor deficits without Mn exposure. Conversely, in the knockins, SLC30A10 was elevated and the increase in Mn levels after Mn exposure was attenuated in targeted regions. However, only dopaminergic- or glutamatergic-, but not GABAergic-, specific knockins were protected against Mn-induced motor deficits. Dopaminergic-specific Slc30a10 knockouts also exhibited deficits in dopaminergic neurotransmission that were consistent with their motor phenotype. Overall, 1) elevated Mn targets dopaminergic and glutamatergic neurons to induce motor disease, and 2) neuron-specific knockout/knockin of efflux transporters is an effective strategy to isolate the neuronal targets and underlying mechanisms of metal-induced neurological disease.

#2

Early Diagnosis and Targeted Therapy in SLC39A8-Congenital Disorder of Glycosylation: A Case Report From Bulgaria.

Cureus2026 Jan

SLC39A8-congenital disorder of glycosylation (SLC39A8-CDG) is a rare autosomal recessive metabolic disease of manganese transport, leading to defective glycosylation and mitochondrial dysfunction. An eight-month-old male infant with severe hypotonia, developmental delay, and dystonic episodes was initially misdiagnosed as epilepsy. Genetic testing identified a homozygous pathogenic variant in the SLC39A8 gene, and biochemical analysis confirmed low manganese levels. Upon initiation of oral manganese sulfate therapy, the patient demonstrated significant clinical improvement, including the achievement of new motor milestones. To our knowledge, this is the first documented case in Bulgaria. This case underscores the importance of early genetic diagnosis and targeted metabolic treatment in altering the clinical trajectory of SLC39A8-CDG. Timely recognition allows for intervention in a disorder that, despite its rarity, has a modifiable course and potential for meaningful developmental gains.

#3

VPA targets Mid1 to improve disrupted retrograde axonal transport in hippocampal neurons and alleviate lithium manganate-induced learning and memory dysfunction.

Journal of advanced research2026 Feb 04

Lithium manganate (LMO) is a new type of pollutant that is extensively applied in the manufacture of lithium-ion batteries. Accumulating evidence indicates that both manganese (Mn) and lithium (Li) can cross the blood-brain barrier and accumulate within the hippocampus. However, the neurotoxic effects of LMO on hippocampal core functions and the involved molecular mechanisms are still unclear. This study observed whether LMO exposure impairs hippocampus-dependent learning and memory in mice and investigated related mechanisms and intervention strategies. A whole-body inhalation exposure system was employed to simulate occupationally relevant in vivo exposure to LMO, with mice exposed to concentrations of 0, 1.35, 13.5, and 135 mg/m3 for 28 and 45 days, corresponding approximately to 3 and 5 human years. In parallel, in vitro co-exposure models were established using HT-22 cells and primary hippocampal neurons treated with Mn and Li. Neurobehavioral, neuropathological, live-cell imaging-based assays were used to assess learning and memory impairment, neuronal damage, and retrograde axonal transport dysfunction. RNA-sequencing and molecular biology approaches were conducted to explore and validate mechanisms. Mid1 silencing/knockdown and valproic acid (VPA) treatment were used to assess whether modulation of Mid1-related changes attenuates LMO-induced neurotoxicity. The results demonstrated that LMO exposure impaired learning and memory in mice. Mechanistically, LMO or Mn and Li co-exposure up-regulates the E3 ubiquitin ligase Mid1 which promotes the degradation of dynein light chain family members Dynlrb2 and Dynlt4 through the ubiquitin-proteasome pathway. This disruption impairs retrograde axonal transport in hippocampal neurons, resulting in neuronal injury and ultimately compromising learning and memory function in mice. Suppression of Mid1 ,or VPA treatment significantly improved the observed neuronal damage and the expression levels of factors related to axonal retrograde transport. This study indicates that LMO inhalation exposure is associated with learning and memory deficits and hippocampal neuronal injury, accompanied by Mid1-related ubiquitin-proteasome alterations and disrupted retrograde axonal transport.

#4

SIRT3 attenuates chronic pain-induced depressive-like behaviors by deacetylating CypD at lysine 166 in central amygdala.

European journal of pharmacology2026 Feb 28

Chronic pain often acts as a trigger of depression. Mitochondrial dysfunction is increasingly recognized as a key player in the pathogenesis of depression and pain. Sirtuin 3 (SIRT3), a nicotinamide adenine dinucleotide (NAD+)-dependent deacetylase, has been found to ameliorate mitochondrial function. However, the role of SIRT3 in the development of chronic pain-induced depression remains unclear. In this study, it was observed that the expression of SIRT3 in the central amygdala (CeA) was downregulated in spared nerve injury (SNI) male mice with comorbid pain and depression. However, the overexpression of SIRT3 in CeA γ-aminobutyric acid-ergic (GABAergic) neurons mitigated the sensory pain and depressive-like behaviors induced by SNI. Further study demonstrated that the overexpression of SIRT3 in CeA GABAergic neurons decreased the acetylation level of lysine 166 (K166) on cyclophilin D (CypD), inhibited the opening of mitochondrial permeability transition pore (mPTP) and the production of reactive oxygen species (ROS), and increased mitochondrial membrane potential (MMP) and manganese superoxide dismutase (MnSOD) levels in SNI mice. Nevertheless, CypD-K166R mutant mice that mimic deacetylation were protected from mitochondrial dysfunction and depressive-like behaviors caused by SNI. Furthermore, blocking mPTP opening using cyclosporin A (CsA) improved mitochondrial function and alleviated neuropathic pain and its comorbid depression in SNI mice. Taken together, our findings suggest that SIRT3 in CeA GABAergic neurons attenuates chronic pain and its comorbid depression by deacetylating CypD-K166 and subsequently ameliorating mitochondrial dysfunction. This study provides a potential therapeutic target for both the sensory and emotional dimensions of chronic pain.

#5

Fine and ultrafine particulate matter components and autism spectrum disorder (ASD).

Environment international2026 Feb

Particulate matter (PM) composition varies by source components and size. While studies show prenatal and early life exposure to total PM2.5 mass to be associated with autism spectrum disorder (ASD), little is known about the role of ultrafine (PM0.1) and fine PM specific components, especially PM0.1. We investigated associations between prenatal and early life exposure to size-resolved PM components and ASD in the CHARGE case-control study. We analyzed 1,281 children (751 ASD, 530 typically developing) from the CHARGE study (enrolled 2003-2020). Daily PM0.1 and PM2.5 component concentrations were estimated using a chemical transport model with 4- or 24-km km resolution (for 95% and 5% of addresses, respectively) and bias correction. Daily exposures were averaged over preconception, pregnancy, and the first year of life, and log transformed. Using logistic regression, we estimated PM0.1 odds ratios (ORs) for ASD per interquartile range (IQR) increase in each component, adjusting for confounders, PM2.5 remainder, and NO2. First-year PM0.1 iron, manganese, black carbon, and sodium were consistently associated with increased odds of ASD (OR (95% CI): 1.60 (1.21, 2.12), 1.27 (1.04, 1.55), 1.54 (1.00, 2.38), and 1.92 (1.24, 2.99), respectively). Similar results were observed with first-year PM0.1-2.5 iron and manganese (OR (95% CI): 1.54 (1.13, 2.09) and 1.46 (1.07, 2.01), respectively). Our findings suggest that exposure to specific PM components during early life, especially in the ultrafine fraction, contribute to ASD risk, with less consistent evidence for prenatal exposures, underscoring the importance of particle composition and exposure timing.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC1 artigos no totalmostrando 200

2026

Early Diagnosis and Targeted Therapy in SLC39A8-Congenital Disorder of Glycosylation: A Case Report From Bulgaria.

Cureus
2026

VPA targets Mid1 to improve disrupted retrograde axonal transport in hippocampal neurons and alleviate lithium manganate-induced learning and memory dysfunction.

Journal of advanced research
2026

SIRT3 attenuates chronic pain-induced depressive-like behaviors by deacetylating CypD at lysine 166 in central amygdala.

European journal of pharmacology
2026

Neuron-specific modulation of SLC30A10 identifies dopaminergic and glutamatergic neurons as targets of manganese-induced motor disease.

Proceedings of the National Academy of Sciences of the United States of America
2026

Fine and ultrafine particulate matter components and autism spectrum disorder (ASD).

Environment international
2025

Gut to brain: essential micronutrient and trace element manganese transport, function and toxicity.

Frontiers in physiology
2025

Excess Dietary Manganese Impairs Iron Nutrition via Modulating Duodenal Transporters in Weaned Pigs.

Veterinary sciences
2026

Manganese activates the CBASS immunity to protect bacteria from phage infection.

mBio
2025

Mutagenesis of OsNRAMP5 Affects Blast Resistance Through Mn Absorption in Rice.

Rice (New York, N.Y.)
2025

SLC11A2 affects nutritional immunity in the gut epithelium.

bioRxiv : the preprint server for biology
2025

Discovery of a Selective Inhibitor of ZIP14 with Therapeutic Potential for Cancer-associated Cachexia.

bioRxiv : the preprint server for biology
2025

A homology-based 3D model and structure-function studies reveal key elements for divalent metal ion transporter ZIP8 (SLC39A8) function.

The Journal of biological chemistry
2025

EPR spectroscopy reveals antioxidant manganese defenses in the Lyme disease pathogen Borrelia burgdorferi.

mBio
2025

Allosteric modulation of the solute carrier transporter SLC39A8 potentiates manganese and cadmium uptake.

The Journal of clinical investigation
2025

Removal of Toxic Metabolites-Chelation: Manganese Disorders.

Journal of inherited metabolic disease
2025

SLC39A14 is Required for Iron Loading of the Anterior Pituitary of Mice with Genetic Iron Overload.

Biological trace element research
2025

Pulmonary Surfactant Protein-Hitchhiking Inhalable Vaccines Augment Mucosal and Systemic Antiviral Immunity.

ACS nano
2025

Metal Transporter Gene SLC39A8 Polymorphism rs13107325 and Dietary Manganese Intake Are Associated with Measures of Cardiovascular Disease Risk in a UK Biobank Population Cohort.

Nutrients
2025

Delayed emergence of parkinson's disease after reversible manganese-induced parkinsonism: a case report.

BMC neurology
2025

Epigenetic Regulation of Manganese-Induced Hepatotoxicity Uncovering Histone Demethylation-Associated Gene Networks.

Journal of biochemical and molecular toxicology
2025

Molecular mechanisms of SLC30A10-mediated manganese transport.

Nature communications
2025

Cerebellar dysfunction in a mouse model of childhood-onset manganese-induced dystonia parkinsonism.

Neurobiology of disease
2025

Systematic analysis of naturally occurring missense mutations in human manganese transporters: prediction and structural insights.

bioRxiv : the preprint server for biology
2026

Aberrant N-glycosylation may be a therapeutic target in carriers of a common and highly pleiotropic variant in the manganese transporter ZIP8.

HGG advances
2025

The role of redox-active iron, copper, manganese, and redox-inactive zinc in toxicity, oxidative stress, and human diseases.

EXCLI journal
2025

An iPSC-derived neuronal model reveals manganese's role in neuronal endocytosis, calcium flux and mitochondrial bioenergetics.

iScience
2025

Cholinergic dysfunction in occupational manganese exposure.

Neurotoxicology
2025

Nutritional Immunity in Wound Infection: Unveiling the Role of Dietary Elements in Host-Pathogen Interaction.

Food science & nutrition
2025

Impact of Manganese on Neuronal Function: An Exploratory Multi-Omics Study on Ferroalloy Workers in Brescia, Italy.

Brain sciences
2025

Beneficial Role of Resveratrol on Oxidative Stress in Women with Polycystic Ovary Syndrome: A Randomized Controlled Trial.

Reproductive sciences (Thousand Oaks, Calif.)
2025

Mitochondria: Key Mediator for Environmental Toxicant-Induced Neurodegeneration.

International journal of toxicology
2025

Exploratory Metabolomic and Lipidomic Profiling in a Manganese-Exposed Parkinsonism-Affected Population in Northern Italy.

Metabolites
2025

Mn-Doped CeO2 Nanozyme-Integrated Mesoporous Interfaces for High-Sensitivity Antifouling Electrochemiluminescence Biosensing.

Biosensors
2025

Functional Cargo in Membrane Vesicles From a Citrus Pathogen.

Environmental microbiology reports
2025

The effect of TSPO transmembrane transport-mediated paeonol mitochondrial antioxidant on dexamethasone-induced mitochondrial abnormalities, oxidative stress damage, and apoptosis in SV40-MES-13 cells.

Experimental cell research
2025

Prevalence of Restless Leg Syndrome and Its Association With Iron Deficiency in Patients With Chronic Kidney Disease: A Cross-Sectional Observational Study.

Cureus
2025

CAD (Cath. a-Differentiated) Cells Produce Dopamine along with Dopamine-Synthesizing Enzymes.

Neurochemical research
2025

Sensitive detection of dengue serotype-4 on lignin-derived graphene nanofibre and manganese oxide composite by DNA-sensing.

Scientific reports
2025

Manganese Intoxication Induced by Total Parenteral Nutrition in the Intensive Care Unit: A Case Report.

Diagnostics (Basel, Switzerland)
2025

Manganese-Induced Parkinsonism: A Review of Etiologies and Treatments.

Degenerative neurological and neuromuscular disease
2025

Impact of Manganese on Neuronal Function: An Exploratory MultiOmic Study on Ferroalloy Workers in Brescia, Italy.

medRxiv : the preprint server for health sciences
2025

Magnetic Frameworks and Non-Magnetic Dopants: A Novel Strategy for Enhancing Thermoelectric Efficiency in Manganese Telluride - Mechanistic Insights into Charge Carrier Dynamics and Phonon Transport.

Small (Weinheim an der Bergstrasse, Germany)
2025

Cadmium exposure and its role in joint disease: A brief review of experimental and population-based evidence.

Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS)
2025

Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2.

Journal of inherited metabolic disease
2025

Manganese Neurotoxicity: A Comprehensive Review of Pathophysiology and Inherited and Acquired Disorders.

Journal of xenobiotics
2025

Acid-resistant chemotactic DNA micromotors for probiotic delivery in inflammatory bowel disease.

Nature communications
2025

Canagliflozin potentially promotes renal protection against glycerol-induced acute kidney injury by activating the AMPK/SIRT1/FOXO-3a/PGC-1α and Nrf2/HO-1 pathways.

Naunyn-Schmiedeberg's archives of pharmacology
2025

Streptococcus suis manganese transporter mutant as a live attenuated vaccine: Safety, efficacy, and virulence reversion mechanisms.

Veterinary microbiology
2025

ROS-responsive MnO2 mesoporous hydrogel to modulate liver-muscle crosstalk and mitigate NAFLD-associated sarcopenia via exosomal miR-582-5p delivery.

Theranostics
2025

Intracellular Mn mobility and differential response to H2O2 accumulation explain the susceptibility of litchi cultivars to dark pericarp disease.

Plant physiology and biochemistry : PPB
2025

SloR-SRE binding to the S. mutans mntH promoter is cooperative.

Journal of bacteriology
2025

Calprotectin elicits aberrant iron starvation responses in Pseudomonas aeruginosa under anaerobic conditions.

Journal of bacteriology
2025

Proximal tubular deletion of superoxide dismutase-2 reveals disparate effects on kidney function in diabetes.

Redox biology
2024

Hypermagnesemia with Dystonia Type 2: Case Report of a New SLC30A10 Variant.

Journal of pharmacy & bioallied sciences
2025

ZntR is a critical regulator for zinc homeostasis and involved in pathogenicity in Riemerella anatipestifer.

Microbiology spectrum
2025

Electron Transfer-Driven Nanozymes Boost Biosensor Sensitivity via a Synergistic Signal Amplification Strategy.

ACS nano
2025

ATP-Exhausted Strategy Induced Anti-Tumor Low-Temperature Photothermal Therapy Based on Rare Earth Nanocrystals Modified Hollow Porous MnOx Nanozyme with TME-Activated NIR-II Imaging.

Small (Weinheim an der Bergstrasse, Germany)
2025

Studies of Slc30a10 Deficiency in Mice Reveal That Intestinal Iron Transporters Dmt1 and Ferroportin Transport Manganese.

Cellular and molecular gastroenterology and hepatology
2025

Protection of Mice Vaccinated with a New B Cell and T Cell Epitopes Cocktail from Staphylococcus aureus Challenge in Skin Infection Model.

Current microbiology
2025

Identification of key chromium resistance genes in Cellulomonas using transcriptomics.

Ecotoxicology and environmental safety
2025

Computational and experimental mapping of the allosteric network of two manganese ABC transporters.

Protein science : a publication of the Protein Society
2025

Human genetic variants in SLC39A8 impact uptake and steady-state metal levels within the cell.

Life science alliance
2025

Sensitivity-enhanced self-powered biosensing platform for detection of sugarcane smut using Mn-doped ZIF-67, RCA-DNA nano-grid array and capacitor.

Biosensors & bioelectronics
2025

Biotin mitigates the development of manganese-induced, Parkinson's disease-related neurotoxicity in Drosophila and human neurons.

Science signaling
2025

SLC10A7 regulates O-GalNAc glycosylation and Ca2+ homeostasis in the secretory pathway: insights into SLC10A7-CDG.

Cellular and molecular life sciences : CMLS
2025

Manganese is a potent inducer of lysosomal activity that inhibits de novo HBV infection.

PLoS pathogens
2024

Silicon regulation of manganese homeostasis in plants: mechanisms and future prospective.

Frontiers in plant science
2024

The Role of Trace Elements in COPD: Pathogenetic Mechanisms and Therapeutic Potential of Zinc, Iron, Magnesium, Selenium, Manganese, Copper, and Calcium.

Nutrients
2024

Manganese Exposure Enhances the Release of Misfolded α-Synuclein via Exosomes by Impairing Endosomal Trafficking and Protein Degradation Mechanisms.

International journal of molecular sciences
2024

Targeting ROS in osteoclasts within the OA environment: A novel therapeutic strategy for osteoarthritis management.

Journal of tissue engineering
2024

Manganese: From Soil to Human Health-A Comprehensive Overview of Its Biological and Environmental Significance.

Nutrients
2024

MATE transporter OsMATE2 mediates root growth, grain size and weight by interacting with Mn-SOD and PABP in rice.

Biochemical and biophysical research communications
2024

Expression of Manganese Transporters ZIP8, ZIP14, and ZnT10 in Brain Barrier Tissues.

International journal of molecular sciences
2024

ZIP8 A391T Crohn's Disease-Linked Risk Variant Induces Colonic Metal Ion Dyshomeostasis, Microbiome Compositional Shifts, and Inflammation.

Digestive diseases and sciences
2025

Pumping the Breaks on Acantholytic Skin Disorders: Targeting Calcium Pumps, Desmosomes, and Downstream Signaling in Darier, Hailey-Hailey, and Grover Disease.

The Journal of investigative dermatology
2024

Association of medullary reticular formation ventral part with spasticity in mice suffering from photothrombotic stroke.

NeuroImage
2024

Protection of cultured vascular endothelial cells against cadmium cytotoxicity by simultaneous treatment or pretreatment with manganese.

The Journal of toxicological sciences
2024

Manganese transporter SLC30A10 and iron transporters SLC40A1 and SLC11A2 impact dietary manganese absorption.

bioRxiv : the preprint server for biology
2024

In vitro reconstitution of transition metal transporters.

The Journal of biological chemistry
2024

Aberrant N-glycosylation is a therapeutic target in carriers of a common and highly pleiotropic mutation in the manganese transporter ZIP8.

bioRxiv : the preprint server for biology
2024

Insights into molecular and cellular functions of the Golgi calcium/manganese-proton antiporter TMEM165.

The Journal of biological chemistry
2024

Urine manganese, cadmium, lead, arsenic, and selenium among autism spectrum disorder children in Kuala Lumpur.

PeerJ
2024

Elevated thyroid manganese reduces thyroid iodine to induce hypothyroidism in mice, but not rats, lacking SLC30A10 transporter.

Metallomics : integrated biometal science
2024

The manganese transporter SLC39A8 links alkaline ceramidase 1 to inflammatory bowel disease.

Nature communications
2024

Reduced Mn uptake of pleiotropic ZIP8 SNP is caused by its loss of Mn-responsive accumulation on the cell-surface.

Bioscience, biotechnology, and biochemistry
2024

Identification and characterization of zinc importers in Corynebacterium diphtheriae.

Journal of bacteriology
2024

Manganese overexposure results in ferroptosis through the HIF-1α/p53/SLC7A11 pathway in ICR mouse brain and PC12 cells.

Ecotoxicology and environmental safety
2024

Does SLC39A8 Ala391Thr Confer Risk of Chronic Liver Disease?

Antioxidants & redox signaling
2024

Trace Elements in Alzheimer's Disease and Dementia: The Current State of Knowledge.

Journal of clinical medicine
2024

Hepatic HIF2 is a key determinant of manganese excess and polycythemia in SLC30A10 deficiency.

JCI insight
2024

Prevalence rates of neurodegenerative diseases versus human exposures to heavy metals across the United States.

The Science of the total environment
2024

Optimizing nutrient transporters to enhance disease resistance in rice.

Journal of experimental botany
2024

Ion Channels and Metal Ions in Parkinson's Disease: Historical Perspective to the Current Scenario.

Methods in molecular biology (Clifton, N.J.)
2024

Diagnosis of manganism and manganese neurotoxicity: A workshop report.

Medicine international
2024

AAV-mediated hepatic expression of SLC30A10 and the Thr95Ile variant attenuates manganese excess and other phenotypes in Slc30a10-deficient mice.

The Journal of biological chemistry
2024

Crohn's Disease-Associated Pathogenic Mutation in the Manganese Transporter ZIP8 Shifts the Ileal and Rectal Mucosal Microbiota Implicating Aberrant Bile Acid Metabolism.

Inflammatory bowel diseases
2024

Loss of SLC30A10 manganese transporter alters expression of neurotransmission genes and activates hypoxia-inducible factor signaling in mice.

Metallomics : integrated biometal science
2023

ATP13A2 (PARK9) and basal ganglia function.

Frontiers in neurology
2024

Manganese disrupts the maturation and degradation of axonal autophagosome leading to hippocampal synaptic toxicity in mice via the activation of LRRK2 on phosphorylation of Rab10.

The Science of the total environment
2024

Ferroptosis at the crossroads of manganese-induced neurotoxicity: A retrospective study.

Toxicology
2024

The antioxidant and anti-inflammatory activities of avasopasem manganese in age-associated, cisplatin-induced renal injury.

Redox biology
2024

Spatial distribution of trace metals and associated transport proteins during bacterial infection.

Analytical and bioanalytical chemistry
2023

Biotin rescues manganese-induced Parkinson's disease phenotypes and neurotoxicity.

bioRxiv : the preprint server for biology
2024

Filifactor alocis enhances survival of Porphyromonas gingivalis W83 in response to H2 O2 -induced stress.

Molecular oral microbiology
2024

Efficacy of oral manganese and D-galactose therapy in a patient bearing a novel TMEM165 variant.

Translational research : the journal of laboratory and clinical medicine
2023

Upregulated FOXM1 stimulates chondrocyte senescence in Acot12-/-Nudt7-/- double knockout mice.

Theranostics
2023

Manganese regulation of COPII condensation controls circulating lipid homeostasis.

Nature cell biology
2023

Manganese therapy for dyslipidemia and plaque reversal in murine models.

Life metabolism
2023

Blood-cerebrospinal fluid barrier permeability of metals/metalloids and its determinants in pediatric patients.

Ecotoxicology and environmental safety
2023

Dynamic elementomics of single-cell ICP-MS-derived signals in normal and calcium pump PMCA4-deficient mouse epididymal sperm during capacitation.

Metallomics : integrated biometal science
2023

In vitro studies of manganese transport and homeostasis.

Methods in enzymology
2023

Impact of manganese accumulation on Na,K-ATPase expression and function in the cerebellum and striatum of C57Bl/6 mice.

Neurotoxicology
2023

Developmental Manganese Exposure Causes Lasting Attention Deficits Accompanied by Dysregulation of mTOR Signaling and Catecholaminergic Gene Expression in Brain Prefrontal Cortex.

bioRxiv : the preprint server for biology
2023

Hepatic and intestinal manganese excretion are both required to regulate brain manganese during elevated manganese exposure.

American journal of physiology. Gastrointestinal and liver physiology
2023

Dietary Trace Elements and the Pathogenesis of Neurodegenerative Diseases.

Nutrients
2023

New insights into the pathogenicity of TMEM165 variants using structural modeling based on AlphaFold 2 predictions.

Computational and structural biotechnology journal
2023

Impact of an SLC30A8 loss-of-function variant on the pancreatic distribution of zinc and manganese: laser ablation-ICP-MS and positron emission tomography studies in mice.

Frontiers in endocrinology
2023

The impact of nutritional immunity on Group B streptococcal pathogenesis during wound infection.

mBio
2023

Photoelectrochemical detection of superoxide anions released from mitochondria in HepG2 cells based on the synergistic effect of MnO2@Co3O4 core-shell p-n heterojunction.

Biosensors & bioelectronics
2023

Functional Characterization of FeoAB in Iron Acquisition and Pathogenicity in Riemerella anatipestifer.

Microbiology spectrum
2024

Essential Trace Elements in Patients with Dyslipidemia: A Meta-analysis.

Current medicinal chemistry
2023

Manganese (II) Complex of 1,4,7-Triazacyclononane-1,4,7-Triacetic Acid (NOTA) as a Hepatobiliary MRI Contrast Agent.

Pharmaceuticals (Basel, Switzerland)
2023

Insights into the regulation of cellular Mn2+ homeostasis via TMEM165.

Biochimica et biophysica acta. Molecular basis of disease
2023

Iron Limitation Restores Autophagy and Increases Lifespan in the Yeast Model of Niemann-Pick Type C1.

International journal of molecular sciences
2023

Copper Efflux System Required in Murine Lung Infection by Haemophilus influenzae Composed of a Canonical ATPase Gene and Tandem Chaperone Gene Copies.

Infection and immunity
2023

SLC30A10 manganese transporter in the brain protects against deficits in motor function and dopaminergic neurotransmission under physiological conditions.

Metallomics : integrated biometal science
2023

Influence of Environmental Exposure to Steel Waste on Endocrine Dysregulation and PER3 Gene Polymorphisms.

International journal of environmental research and public health
2023

Linagliptin exacerbates heart failure due to energy deficiency via downregulation of glucose utilization and absorption in a mouse model.

European journal of pharmacology
2023

Comparative analysis of the functional properties of human and mouse ferroportin.

American journal of physiology. Cell physiology
2023

Current insights into the microbial degradation of nicosulfuron: Strains, metabolic pathways, and molecular mechanisms.

Chemosphere
2023

Healthy dietary patterns are associated with the gut microbiome in the Hispanic Community Health Study/Study of Latinos.

The American journal of clinical nutrition
2023

Cryo-EM structures of human SPCA1a reveal the mechanism of Ca2+/Mn2+ transport into the Golgi apparatus.

Science advances
2023

Hypoxia-inducible factor 2 is a key determinant of manganese excess and polycythemia in SLC30A10 deficiency.

bioRxiv : the preprint server for biology
2023

Manganese Efflux Achieved by MetA and MetB Affects Oxidative Stress Resistance and Iron Homeostasis in Riemerella anatipestifer.

Applied and environmental microbiology
2023

Combined chronic copper exposure and aging lead to neurotoxicity in vivo.

Neurotoxicology
2022

Hypermanganesaemia with dystonia polycythemia and cirrhosis.

JPMA. The Journal of the Pakistan Medical Association
2023

Biomineralized Nanoscavenger Abrogates Proinflammatory Macrophage Polarization and Induces Neutrophil Clearance through Reverse Migration during Gouty Arthritis.

ACS applied materials & interfaces
2023

Prenatal exposure to tailpipe and non-tailpipe tracers of particulate matter pollution and autism spectrum disorders.

Environment international
2023

Hormetic activation of nano-sized rare earth element terbium on growth, PSII photochemistry, antioxidant status and phytohormone regulation in Lemnaminor.

Plant physiology and biochemistry : PPB
2023

Generation of the Chemical and Social Stressors Integration Technique (CASS-IT) to identify areas of holistic public health concern: An application to North Carolina.

The Science of the total environment
2023

Manganese efflux transporter SLC30A10 missense polymorphism T95I associated with liver injury retains manganese efflux activity.

American journal of physiology. Gastrointestinal and liver physiology
2022

Hereditary Disorders of Manganese Metabolism: Pathophysiology of Childhood-Onset Dystonia-Parkinsonism in SLC39A14 Mutation Carriers and Genetic Animal Models.

International journal of molecular sciences
2022

Reprisal of Schima superba to Mn stress and exploration of its defense mechanism through transcriptomic analysis.

Frontiers in plant science
2022

Caenorhabditis elegans as a Model to Study Manganese-Induced Neurotoxicity.

Biomolecules
2022

Foliar application of three dithiocarbamates inhibits the absorption and accumulation of Cd in wheat.

Environmental science. Processes & impacts
2022

A hypoxia-driven occurrence of chronic kidney disease and osteoporosis in COPD individuals: New insights into environmental cadmium exposure.

Toxicology
2022

Clinical Profile and Treatment Outcomes of Hypermanganesemia with Dystonia 1 and 2 among 27 Indian Children.

Movement disorders clinical practice
2022

Manganese and related neurotoxic pathways: A potential therapeutic target in neurodegenerative diseases.

Neurotoxicology and teratology
2022

Redox stress and metal dys-homeostasis appear as hallmarks of early prion disease pathogenesis in mice.

Free radical biology & medicine
2022

Enhancement of astrocytic gap junctions Connexin43 coupling can improve long-term isoflurane anesthesia-mediated brain network abnormalities and cognitive impairment.

CNS neuroscience & therapeutics
2022

Pathophysiological studies of aging Slc39a14 knockout mice to assess the progression of manganese-induced dystonia-parkinsonism.

Neurotoxicology
2022

Endosomal recycling defects link Huntington's disease with McLeod syndrome.

The Journal of cell biology
2022

Impaired XK recycling for importing manganese underlies striatal vulnerability in Huntington's disease.

The Journal of cell biology
2022

Metal Ion Periplasmic-Binding Protein YfeA of Glaesserella parasuis Induces the Secretion of Pro-Inflammatory Cytokines of Macrophages via MAPK and NF-κB Signaling through TLR2 and TLR4.

International journal of molecular sciences
2022

The schizophrenia-associated missense variant rs13107325 regulates dendritic spine density.

Translational psychiatry
2022

Multivalent Gd-DOTA Decorated Oligopeptide as Sensitive MRI Molecular Probes for In Vivo Imaging of Brain Connectivity.

ACS chemical neuroscience
2022

Empagliflozin improves cardiac mitochondrial function and survival through energy regulation in a murine model of heart failure.

European journal of pharmacology
2022

Chronic Fluoxetine Treatment of Socially Isolated Rats Modulates Prefrontal Cortex Proteome.

Neuroscience
2022

Interaction between manganese and SLC6A3 genetic polymorphisms in relation to dyslexia.

Neurotoxicology
2022

Lone-Pair-Like Interaction and Bonding Inhomogeneity Induce Ultralow Lattice Thermal Conductivity in Filled β-Manganese-Type Phases.

Chemistry of materials : a publication of the American Chemical Society
2022

The mitochondrial RNA granule modulates manganese-dependent cell toxicity.

Molecular biology of the cell
2022

Metal Homeostasis in Pathogenic Streptococci.

Microorganisms
2022

Quantitative Trait Locus Mapping of Marsh Spot Disease Resistance in Cranberry Common Bean (Phaseolus vulgaris L.).

International journal of molecular sciences
2022

Divalent Metal Uptake and the Role of ZIP8 in Host Defense Against Pathogens.

Frontiers in cell and developmental biology
2022

Axonal Transport Impairment and its Relationship with Diffusion Tensor Imaging Metrics of a Murine Model of p301L Tau Induced Tauopathy.

Neuroscience
2022

The Combined Inactivation of Intestinal and Hepatic ZIP14 Exacerbates Manganese Overload in Mice.

International journal of molecular sciences
2022

Prime Real Estate: Metals, Cofactors and MICOS.

Frontiers in cell and developmental biology
2022

Mitochondrial Cytochrome c Oxidase Defects Alter Cellular Homeostasis of Transition Metals.

Frontiers in cell and developmental biology
2022

Genomic Analyses Identify Manganese Homeostasis as a Driver of Group B Streptococcal Vaginal Colonization.

mBio
2022

Deletion of RE1-silencing transcription factor in striatal astrocytes exacerbates manganese-induced neurotoxicity in mice.

Glia
2022

Effects of individual amino acid mutations of zinc transporter ZIP8 on manganese- and cadmium-transporting activity.

Biochemical and biophysical research communications
2022

Involvement of a putative ATP-Binding Cassette (ABC) Involved in manganese transport in virulence of Listeria monocytogenes.

PloS one
2022

Global transcriptomic analysis of ethanol tolerance response in Salmonella Enteritidis.

Current research in food science
2022

Manganese-enhanced magnetic resonance imaging method detects age-related impairments in axonal transport in mice and attenuation of the impairments by a microtubule-stabilizing compound.

Brain research
2023

Antioxidant Capacity Is Decreased in Wilson's Disease and Correlates to Liver Function.

Biological trace element research
2022

Loss of slc39a14 causes simultaneous manganese hypersensitivity and deficiency in zebrafish.

Disease models & mechanisms
2022

Integration of iron-manganese layered double hydroxide/tungsten carbide composite: An electrochemical tool for diphenylamine H•+ analysis in environmental samples.

Environmental research
2022

A rare genetic variant in the manganese transporter SLC30A10 and elevated liver enzymes in the general population.

Hepatology international
2022

MnTE-2-PyP protects fibroblast mitochondria from hyperglycemia and radiation exposure.

Redox biology
2022

Effect of Chelation Therapy on a Korean Patient With Brain Manganese Deposition Resulting From a Compound Heterozygous Mutation in the SLC39A14 Gene.

Journal of movement disorders
2022

Longitudinal manganese-enhanced magnetic resonance imaging of neural projections and activity.

NMR in biomedicine
2022

Neurotoxicity and gene expression alterations in zebrafish larvae in response to manganese exposure.

The Science of the total environment
2022

TdfH selectively binds metal-loaded tetrameric calprotectin for zinc import.

Communications biology
2022

On the Interplay Between Oxygen Vacancies and Small Polarons in Manganese Iron Spinel Oxides.

ACS materials Au
2022

Golgi Metal Ion Homeostasis in Human Health and Diseases.

Cells
2022

"Cock-walk" gait and "horseshoe moustache" sign on MRI in inherited hypermanganesemia.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2022

Adrenomedullin ameliorates palmitic acid-induced insulin resistance through PI3K/Akt pathway in adipocytes.

Acta diabetologica
2022

Systematic and state-of the science review of the role of environmental factors in Amyotrophic Lateral Sclerosis (ALS) or Lou Gehrig's Disease.

The Science of the total environment
2022

Manganese transport in mammals by zinc transporter family proteins, ZNT and ZIP.

Journal of pharmacological sciences
2022

The association of bone and blood manganese with motor function in Chinese workers.

Neurotoxicology
2021

Alteration of the gut microbiota in rhesus monkey with spontaneous osteoarthritis.

BMC microbiology
2022

Manganese phosphorylates Yin Yang 1 at serine residues to repress EAAT2 in human H4 astrocytes.

Toxicology letters
2022

Role of excretion in manganese homeostasis and neurotoxicity: a historical perspective.

American journal of physiology. Gastrointestinal and liver physiology
2021

The Impact of ZIP8 Disease-Associated Variants G38R, C113S, G204C, and S335T on Selenium and Cadmium Accumulations: The First Characterization.

International journal of molecular sciences
2021

Astrocytic transcription factor REST upregulates glutamate transporter EAAT2, protecting dopaminergic neurons from manganese-induced excitotoxicity.

The Journal of biological chemistry
2022

Chronic Intestinal Inflammation Suppresses Brain Activity by Inducing Neuroinflammation in Mice.

The American journal of pathology
2021

Alcohol exposure increases manganese accumulation in the brain and exacerbates manganese-induced neurotoxicity in mice.

Archives of toxicology
2021

Trace metals and animal health: Interplay of the gut microbiota with iron, manganese, zinc, and copper.

Animal nutrition (Zhongguo xu mu shou yi xue hui)
2021

Titratable transmembrane residues and a hydrophobic plug are essential for manganese import via the Bacillus anthracis ABC transporter MntBC-A.

The Journal of biological chemistry
2021

Revealing the role of Plant Growth Promoting Rhizobacteria in suppressive soils against Fusarium oxysporum f.sp. cubense based on metagenomic analysis.

Heliyon

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Neuron-specific modulation of SLC30A10 identifies dopaminergic and glutamatergic neurons as targets of manganese-induced motor disease.
    Proceedings of the National Academy of Sciences of the United States of America· 2026· PMID 41628331mais citado
  2. Early Diagnosis and Targeted Therapy in SLC39A8-Congenital Disorder of Glycosylation: A Case Report From Bulgaria.
    Cureus· 2026· PMID 41669571mais citado
  3. VPA targets Mid1 to improve disrupted retrograde axonal transport in hippocampal neurons and alleviate lithium manganate-induced learning and memory dysfunction.
    Journal of advanced research· 2026· PMID 41651028mais citado
  4. SIRT3 attenuates chronic pain-induced depressive-like behaviors by deacetylating CypD at lysine 166 in central amygdala.
    European journal of pharmacology· 2026· PMID 41643830mais citado
  5. Fine and ultrafine particulate matter components and autism spectrum disorder (ASD).
    Environment international· 2026· PMID 41547316mais citado
  6. A novel mutation in SLC39A14 causing hypermanganesemia associated with infantile onset dystonia.
    J Gene Med· 2018· PMID 29498153recente
  7. Inherited Disorders of Manganese Metabolism.
    Adv Neurobiol· 2017· PMID 28889262recente
  8. Non-Wilsonian hepatolenticular degeneration: Clinical and MRI observations in four families from south India.
    J Clin Neurosci· 2016· PMID 26765764recente
  9. SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.
    Am J Hum Genet· 2015· PMID 26637979recente
  10. A new treatable genetic disorder of manganese metabolism causing dystonia-parkinsonism and cirrhosis: the "new" Wilson's disease?
    Mov Disord· 2012· PMID 22807186recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:309851(Orphanet)
  2. MONDO:0017766(MONDO)
  3. GARD:21358(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q55787341(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

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Alteração do transporte de manganês
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Alteração do transporte de manganês

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