Disfemia, também chamada de gagueira, ou mais tecnicamente, Gagueira Persistente do Neurodesenvolvimento (GPNd), é um distúrbio da fluência da fala caracterizado por interrupções involuntárias no fluxo normal da fala, incluindo repetições de sons ou sílabas, prolongamentos de fonemas e bloqueios motores durante a produção verbal.
Introdução
O que você precisa saber de cara
Doença rara que afeta o metabolismo e transporte de ferro, levando a acúmulo circulante, neurodegeneração e disfunções motoras. Manifesta-se com ferritina elevada, acinesia, hiperplasia eritroide e alterações neurológicas.
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Entender a doença
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Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 80 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 177 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
11 genes identificados com associação a esta condição.
Proton-coupled metal ion symporter operating with a proton to metal ion stoichiometry of 1:1 (PubMed:17109629, PubMed:17293870, PubMed:22736759, PubMed:25326704, PubMed:25491917). Selectively transports various divalent metal cations, in decreasing affinity: Cd(2+) > Fe(2+) > Co(2+), Mn(2+) >> Zn(2+), Ni(2+), VO(2+) (PubMed:17109629, PubMed:17293870, PubMed:22736759, PubMed:25326704, PubMed:25491917). Essential for maintenance of iron homeostasis by modulating intestinal absorption of dietary Fe
Early endosome membraneApical cell membraneLate endosome membraneLysosome membraneCell membraneExtracellular vesicle membraneMitochondrion outer membraneGolgi apparatus, trans-Golgi network membraneRecycling endosome membrane
Anemia, hypochromic microcytic, with iron overload 1
A hematologic disease characterized by abnormal hemoglobin content in the erythrocytes which are reduced in size. The disorder is due to an error of iron metabolism that results in high serum iron, massive hepatic iron deposition, and absence of sideroblasts and stainable bone marrow iron store. Despite adequate transferrin-iron complex, delivery of iron to the erythroid bone marrow is apparently insufficient for the demands of hemoglobin synthesis.
Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation
Cell membraneCytoplasm
Hemochromatosis 3
A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.
Multifunctional blue, copper-binding (6-7 atoms per molecule) glycoprotein. It has ferroxidase activity oxidizing Fe(2+) to Fe(3+) without releasing radical oxygen species. It is involved in iron transport across the cell membrane (PubMed:16150804). Copper ions provide a large number of enzymatic activites. Oxidizes highly toxic ferrous ions to the ferric state for further incorporation onto apo-transferrins, catalyzes Cu(+) oxidation and promotes the oxidation of biogenic amines such as norepin
Secreted
Aceruloplasminemia
An autosomal recessive disorder of iron metabolism characterized by iron accumulation in the brain as well as visceral organs. Clinical features consist of the triad of retinal degeneration, diabetes mellitus and neurological disturbances.
Transports Fe(2+) from the inside of a cell to the outside of the cell, playing a key role for maintaining systemic iron homeostasis (PubMed:15692071, PubMed:22178646, PubMed:22682227, PubMed:24304836, PubMed:29237594, PubMed:29599243, PubMed:30247984). Transports iron from intestinal, splenic, hepatic cells, macrophages and erythrocytes into the blood to provide iron to other tissues (By similarity). Controls therefore dietary iron uptake, iron recycling by macrophages and erythrocytes, and rel
Cell membraneBasolateral cell membrane
Hemochromatosis 4
A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.
Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity). Delivery to lysosomes by the cargo receptor NCOA4 for autophagic degradation and release or iron (PubMed:24695223)
Cytoplasmic vesicle, autophagosomeCytoplasmAutolysosome
Hyperferritinemia with or without cataract
An autosomal dominant disease characterized by elevated level of ferritin in serum and tissues, and early-onset bilateral cataract. Cataracts may be subclinical in some patients.
Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin
Cell membrane
Hemochromatosis 1
A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.
Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including cardiogenesis, neurogenesis, and osteogenesis (PubMed:18436533, PubMed:24362451, PubMed:31019025). Induces cartilage and bone formation (PubMed:3201241). Initiates the canonical BMP signaling cascade by associating with type I receptor BMPR1A and type II receptor BMPR2 (PubMed:15064755, PubMed:17295905, PubMed:18436533). Once all three components are bound together in a complex at the
Secreted
Brachydactyly A2
A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type A2 shortening of the middle phalanges is confined to the index finger and the second toe, all other digits being more or less normal. Because of a rhomboid or triangular shape of the affected middle phalanx, the end of the second finger usually deviates radially.
Liver-produced hormone that constitutes the main circulating regulator of iron absorption and distribution across tissues. Acts by promoting endocytosis and degradation of ferroportin/SLC40A1, leading to the retention of iron in iron-exporting cells and decreased flow of iron into plasma (PubMed:22682227, PubMed:29237594, PubMed:32814342). Controls the major flows of iron into plasma: absorption of dietary iron in the intestine, recycling of iron by macrophages, which phagocytose old erythrocyte
Secreted
Hemochromatosis 2B
A juvenile form of hemochromatosis, a disorder of iron metabolism with excess deposition of iron in a variety of organs leading to their failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of juvenile hemochromatosis at presentation are hypogonadism and cardiomyopathy.
Acts as a bone morphogenetic protein (BMP) coreceptor (PubMed:18976966). Through enhancement of BMP signaling regulates hepcidin (HAMP) expression and regulates iron homeostasis (PubMed:18976966)
Cell membrane
Hemochromatosis 2A
A juvenile form of hemochromatosis, a disorder of iron metabolism with excess deposition of iron in a variety of organs leading to their failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of juvenile hemochromatosis at presentation are hypogonadism and cardiomyopathy.
Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity (PubMed:9003196). Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation (PubMed:9003196). Also plays a role in delivery of iron to cells (By similarity). Mediates iron uptake in capsule cells of the developing kidney (By similarity). Delivery to lysosomes is mediated by the cargo receptor NCOA4 for autophagic degradation and release of iron (PubM
CytoplasmLysosomeCytoplasmic vesicle, autophagosome
Hemochromatosis 5
A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.
Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate. It is responsible for the transport of iron from sites of absorption and heme degradation to those of storage and utilization. Serum transferrin may also have a further role in stimulating cell proliferation (Microbial infection) Serves as an iron source for Neisseria species, which capture the protein and extract its iron for their own use (Microbial
Secreted
Atransferrinemia
A rare autosomal recessive disorder characterized by abnormal synthesis of transferrin leading to iron overload and microcytic hypochromic anemia.
Variantes genéticas (ClinVar)
529 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
20 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Alteração do metabolismo e transporte de ferro
Centros de Referência SUS
21 centros habilitados pelo SUS para Alteração do metabolismo e transporte de ferro
Centros para Alteração do metabolismo e transporte de ferro
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
NUPAD / Faculdade de Medicina UFMG
Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital de Clínicas da Universidade Federal de Pernambuco
Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital Universitário Onofre Lopes (HUOL)
Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570
Atenção Especializada
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
Instituto da Criança e do Adolescente (ICr-HCFMUSP)
Av. Dr. Enéas Carvalho de Aguiar, 647 - Cerqueira César, São Paulo - SP, 05403-000 · CNES 2081695
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
Characterization of ferroportin disease and SLC40A1-related hemochromatosis - Results from the EASL non-HFE registry.
Pathogenic variants in the cellular iron exporter ferroportin (SLC40A1) cause hepatic and splenic iron overload. Low to normal transferrin saturation (TSAT) and iron accumulation in Kupffer cells with high splenic iron distinguish ferroportin disease (FD) from SLC40A1-related hemochromatosis (SLC40A1-HC), which are both caused by variants in SLC40A1. The aim of our study was to describe pathogenic mutations in SLC40A1, phenotypic variability in affected patients and compare outcomes with HFE-related hemochromatosis (HFE-HC). The international EASL non-HFE hemochromatosis patient registry prospectively collected clinical, radiological, biochemical, and genetic data for 95 patients with SLC40A1 variants from six centers. Additionally, 363 patients were identified by a systematic literature review. As a comparator, 603 patients diagnosed with HFE-HC were included. The FD phenotype presented in 65.5% of affected individuals. Patients with FD were younger at diagnosis and more often female than those with SLC40A1-HC. SLC40A1 variants were associated with higher hepatic and splenic iron concentrations compared to the HFE-HC group. Variability in phenotypic presentation was high among patients with SLC40A1 variants, and a genotype-to-phenotype correlation could only explain a small proportion of this variation. Variants that directly affect the metal binding site in ferroportin more likely presented with high TSAT. Patients with the SLC40A1-HC phenotype (TSAT >45%) had a higher risk of fibrosis. Life expectancy was similar between patients with SLC40A1 variants and matched patients with HFE-HC. Most individuals with SLC40A1 variants (73.2%) received regular phlebotomies, which were not associated with differences in life expectancy. Mutations in SLC40A1 cause a highly variable disease spectrum with hepatic and splenic iron overload. Fibrosis risk is higher in patients with elevated TSAT. Clinical management of individuals with SLC40A1 variants has largely been extrapolated from HFE-related hemochromatosis despite fundamental pathophysiological differences. Our study provides detailed phenotypic characterization that supports diagnosis and distinction of these rare iron overload disorders. Long-term follow-up shows preserved life expectancy, unaffected by phlebotomy, underscoring the need to critically assess phlebotomy on an individualized basis. Patients with SLC40A1-related hemochromatosis (transferrin saturation >45%) had a higher prevalence of chronic liver disease than those with ferroportin disease, suggesting that elevated transferrin saturation and hepatic iron drive disease progression, which can guide risk stratification and clinical decision making. Not applicable.
The therapeutic potential of Piezo1 channel-mediated ferroptosis and its inhibitor.
Piezo1 is a mechanically activated, non-selective cation channel characterized by its exquisite sensitivity to membrane tension and high permeability to calcium(Ca2+), enabling the conversion of mechanical stimuli into intracellular signaling events. Activation of Piezo1 leads to Ca2+ influx, which initiates iron metabolism reprogramming-including transferrin receptor 1(TfR1)-dependent iron uptake, divalent metal transporter 1(DMT1)-mediated iron transport, and Nuclear Receptor Coactivator 4(NCOA4)-regulated ferritinophagy-thereby promoting the accumulation of reactive oxygen species (ROS) and lipid peroxidation. Ultimately, these events culminate in ferroptosis by suppressing glutathione peroxidase 4 (GPX4) activity. The "mechanical force-Piezo1-Ca2+-iron/lipid metabolism" axis establishes mechanical stress as a pivotal upstream regulator of ferroptosis. This axis facilitates the functional integration of mechanotransduction into inflammatory mediator production, vascular and extracellular matrix(ECM) remodeling, and metabolic reprogramming. Furthermore, this signaling pathway exerts context-dependent pathogenic or protective effects across diverse pathological conditions, including musculoskeletal degeneration, ischemia-reperfusion injury, inflammatory bowel disease, neurovascular disorders, and cancer. This review provides a comprehensive overview of the molecular mechanisms and clinical evidence governing Piezo1-mediated ferroptosis. We summarize current pharmacological and genetic interventions for its inhibition-along with associated limitations such as selectivity and pharmacokinetic challenges-and explores interventions targeting the channel itself, Ca²⁺signaling, and downstream ferroptotic processes, including iron chelation, lipid peroxidation suppression, and preservation of the GPX4/coenzyme Q10 (CoQ10) axis. Furthermore, the potential for integrating these interventions with established therapeutic modalities is also discussed. A profound understanding of the druggability and context-dependent dynamics of the Piezo1-ferroptosis axis is expected to facilitate the discovery of novel therapeutic targets and combinatorial regimens for the precision management of mechanosensitive diseases.
Mitochondrial Iron Handling and Lipid Peroxidation as Drivers of Ferroptosis.
Mitochondria are a key organelle in maintaining metabolic homeostasis. It not only generates most of the cell's energy through oxidative phosphorylation but also acts as a complex sensor of the redox state and oxygen in the cell. This review thoroughly analyzes the interactions among mitochondrial iron metabolism, mitochondrial reactive oxygen species (mtROS), and lipid peroxidation (LPO), the triggering factors of ferroptosis, an iron-dependent form of programmed cell death. We point out research showing that intrinsic mitochondrial machinery, such as iron-sulfur (Fe-S) cluster assembly and heme metabolism, is both an important cofactor and a master regulator. If these processes are disrupted, they can lead to ferroptosis. Unlike views that focus on the cytosol, we explain that the stability of Fe-S clusters in complexes such as aconitase and respiratory Complex I is crucial for preventing electron leakage and excessive mtROS formation. The Fenton reaction and its direct effect on cardiolipin (CL) oxidation in the inner membrane of mitochondria is a central event in cardiometabolic diseases. Its peroxidation and breakdown make the organelle very unstable and lead to cell death though Ca2+ overload and a significantly decreased reduced/oxidized glutathione ratio. Additionally, the functions of essential iron transporters and glutathione homeostasis are examined, and their dysregulation is correlated with ferroptosis-associated progression of cardiometabolic and neurodegenerative disorders, such as obesity and Alzheimer's disease. This review focused on the need to revisit the classic bioenergetic core of the mitochondria as a key player in the pathophysiology of metabolic and neurodegenerative diseases.
COG5 deficiency disrupts cellular copper homeostasis and underlies the impaired mitochondrial OXPHOS function.
COG5, a subunit of the conserved oligomeric Golgi (COG) complex, plays a critical role in retrograde trafficking within the Golgi apparatus. Dysfunction of COG5 is associated with various human disorders, yet the underlying pathogenic mechanisms remain poorly understood. To investigate the mechanisms, we conducted proteomic analyses using COG5-deficient and rescue cell models, which revealed a potential link between COG5 dysfunction and mitochondrial oxidative phosphorylation (OXPHOS) deficiency. Using COG5-deficient cell models and patient-derived cells harboring COG5 variants, we biochemically validated the involvement of COG5 in mitochondrial OXPHOS, particularly in the regulation of complex I content. These models also exhibited elevated cellular copper levels. Notably, the significant reduction in OXPHOS complexes could be rescued by either restoring COG5 expression or administering a copper chelator. We further demonstrated that excessive cellular copper disrupts the function of mitochondrial iron-sulfur clusters, potentially leading to complex I assembly defects. Additionally, we identified a patient with biallelic COG5 variants presenting with a distinct subtype of mitochondrial disease (Leigh syndrome), a phenotype not previously associated with COG5-related disorders. These findings provide novel mechanistic insights into the role of COG5, extending beyond its established function in Golgi-mediated glycosylation modifications. Our results underscore the importance of COG5 in mitochondrial function through a copper-dependent pathway, offering new perspectives on its contribution to cellular homeostasis and disease pathogenesis.
Cell-type resolved protein atlas of brain lysosomes identifies SLC45A1-associated disease as a lysosomal disorder.
Mutations in lysosomal genes cause neurodegeneration and neuronopathic lysosomal storage disorders (LSDs). Despite their essential role in brain homeostasis, the cell-type-specific composition and function of lysosomes remain poorly understood. Here, we report a quantitative protein atlas of lysosomes from mouse neurons, astrocytes, oligodendrocytes, and microglia. We identify dozens of proteins not previously annotated as lysosomal and reveal the diversity of lysosomal composition across brain cell types. Notably, we identified SLC45A1, a gene whose mutations cause a monogenic neurological disease, as a neuron-specific lysosomal protein. Loss of SLC45A1 causes lysosomal dysfunction in vitro and in vivo. SLC45A1 functions as a lysosomal sugar transporter and impacts the stability of the V1 subunits of the vacuolar ATPase (V-ATPase). Consistently, SLC45A1 loss reduces lysosomal V1 subunits, elevates lysosomal pH, and disrupts iron homeostasis, causing mitochondrial dysfunction. Altogether, our work redefines SLC45A1-associated disease as an LSD and establishes a comprehensive map to study lysosome biology at cell-type resolution.
Publicações recentes
Placental iron transport under maternal stress: a missing link in foetal programming and mental health.
Therapeutic Potentials of Phytochemicals in Pancreatitis: Targeting Calcium Signaling, Ferroptosis, microRNAs, and Inflammation with Drug-Likeness Evaluation.
CISD2 ensures adequate ER-mitochondrial coupling, critically supporting mitochondrial function in neurons.
A homology-based 3D model and structure-function studies reveal key elements for divalent metal ion transporter ZIP8 (SLC39A8) function.
Fe-deficiency-induced chlorosis 1 is essential for chloroplast iron transport and homeostasis under continuous light conditions in Arabidopsis.
📚 EuropePMCmostrando 199
Characterization of ferroportin disease and SLC40A1-related hemochromatosis - Results from the EASL non-HFE registry.
Journal of hepatologyThe therapeutic potential of Piezo1 channel-mediated ferroptosis and its inhibitor.
Apoptosis : an international journal on programmed cell deathMitochondrial Iron Handling and Lipid Peroxidation as Drivers of Ferroptosis.
International journal of molecular sciencesCOG5 deficiency disrupts cellular copper homeostasis and underlies the impaired mitochondrial OXPHOS function.
PLoS geneticsAntibody-based nanoparticles in Alzheimer's disease: Innovations in diagnosis and therapy.
Pathology, research and practiceEffect of 6-Hydroxydopamine on Iron Metabolism in MO3.13 Oligodendrocytes.
Neurochemical researchPlacental iron transport under maternal stress: a missing link in foetal programming and mental health.
EBioMedicineAstrocyte-Targeted Nanotherapeutics Modulate Iron Homeostasis in Cerebral Amyloid Angiopathy by Restoring the Astrocytic Trafficking Hub Function.
ACS nanoIron Overload-Induced Ferroptosis Drives Placental Dysfunction in Preeclampsia.
Hypertension (Dallas, Tex. : 1979)Intestine-Specific Ferroportin Ablation Rescues from Systemic Iron Overload in Mice.
NutrientsCell-type resolved protein atlas of brain lysosomes identifies SLC45A1-associated disease as a lysosomal disorder.
Cell[Effect of moxibustion at "Feishu" (BL13) and "Xinshu"(BL15) on myocardial fibrosis in chronic heart failure rats based on ferroptosis].
Zhen ci yan jiu = Acupuncture researchProkaryotic organelle mitochondria drive tumorigenesis: "the original sin".
Frontiers in oncologyHigh glucose diet induces hepatic iron overload contributing to metabolic dysfunction.
iScienceThe adaptation strategy of Astragalus mongholicus shoots to the root Fe2+ deficiency and its strong stimulating effect on glucoliquiritin apioside accumulation.
Journal of plant physiologyEffect of saponins from gynostemma pentaphyllum on iron metabolism in apolipoprotein E deficient mice.
European journal of medical researchThe Potential Role of Iron Homeostasis and Ferroptosis in Exercise Nutrition and Health.
NutrientsHuman pluripotent stem cell models of Friedreich's ataxia: innovations, considerations, and future perspectives.
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Journal of ethnopharmacologyN-homocysteinylation of ferritin and associated changes in iron metabolism as potential drivers of vascular endothelial dysfunction in hyperhomocysteinemia.
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International journal of molecular sciencesIron metabolism disorder promotes postovulatory oocyte aging by inducing oxidative stress damage.
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MetabolitesThe Non-Coding RNome Landscape in Erythropoiesis: Pathophysiological Implications.
CellsYTHDF1 transcriptionally activated by TCF4 suppresses osteoblast ferroptosis in titanium nanoparticle-induced osteolysis by accelerating GPX4 and SLC7A11 translation.
Journal of nanobiotechnologyBeyond oxidative stress: Ferroptosis as a novel orchestrator in neurodegenerative disorders.
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Clinical and translational scienceSlc22a17 governs postnatal neurogenesis by maintaining the iron homeostasis in hippocampus.
Nature communicationsLipidic nanomedicines enhance Hinokitiol activity on human primary macrophages from Ferroportin disease patients.
International journal of pharmaceuticsEvaluating the adenosine hypothesis of restless legs syndrome and its implications for current and future treatment strategies.
Expert review of neurotherapeuticsSize-Controlled Mesoporous Silica Nanoparticles via Template Nanoarchitectonics from a Deferoxamine Derivative for Enhanced Blood-Brain Barrier Permeability and Neuroprotective Chelation Therapy.
ACS applied materials & interfacesAdvancing Iron Therapy in Maternal Health: Evolving Strategies for Treating Iron Deficiency Anemia.
Obstetrical & gynecological surveyTPX2 promotes ferroptosis in LPS-induced C28/I2 chondrocytes via NF-κB p65-mediated downregulation of GPX4 and SLC7A11.
Molecular biology reportsIron overload induces hepatic iron deposition and oxidative damage in freshwater fish Megalobrama amblycephala by inhibiting ferroportin 1 gene expression.
Comparative biochemistry and physiology. Part B, Biochemistry & molecular biologyParkinsonism in people with virally suppressed HIV.
The lancet. HIVZIP14 upregulation leads to ferroptosis and lysosomal dysfunction through intracellular iron overload and induces myocardial ischemia/reperfusion injury in mouse hearts.
Journal of molecular and cellular cardiologyDietary Iron Deficiency in Adult Mice Increases Brain Uptake of High-Affinity, Anti-Transferrin Receptor Antibody RI7217.
Journal of neurochemistryCISD2 ensures adequate ER-mitochondrial coupling, critically supporting mitochondrial function in neurons.
Acta neuropathologica communicationsIron deficiency impact on exercise performance in patients with heart failure.
Journal of cardiovascular medicine (Hagerstown, Md.)Integrated transcriptomics and proteomics reveal ferroptosis induced by B[a]P and BPDE in mouse hippocampal neurons.
Scientific reportsActivation of GSDME by all-trans-retinal increases sensitivity to photoreceptor ferroptosis.
International journal of biological sciencesMelatonin inhibits liver ferroptosis in copper-laden rats: a potential therapy mechanism underlying Wilson's disease.
Free radical researchGut microbiome restoring biogenic ferritin mineral as an effective oral iron supplement for iron deficiency anemia.
Journal of nanobiotechnology[The role of dietary aluminum exposure in disturbances of micronutrient metabolism and expression of metal transporter genes].
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Advanced science (Weinheim, Baden-Wurttemberg, Germany)Ferredoxins: master regulators in mitochondrial redox homeostasis and programmed cell death.
Redox biologyPIEZO1 gain-of-function mutation drives cardiomyopathy by disrupting myocardial lipid homeostasis besides iron overload.
Science advancesExcess aldosterone and cortisol promote myocardial iron deficiency: A potential pathway to cardiac injury.
The Journal of steroid biochemistry and molecular biologyA homology-based 3D model and structure-function studies reveal key elements for divalent metal ion transporter ZIP8 (SLC39A8) function.
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Journal of neurochemistryKCNK3 coordinates adipocyte lipid storage and thermogenic shifts via AMPK, modulating a ferroptosis-permissive state.
Cellular signallingSingle-cell transcriptional decoding of iron deficiency responses in maize root tips.
Plant cell reportsIron-Skin Axis: Exploring the Interplay between Iron Homeostasis and Skin Disorders.
The Journal of investigative dermatologyCadmium induces ferroptosis in B cells via ATP6V0A1-upregulated lysosomal ferritinophagy: insights from murine transcriptomics and human cellular models.
Free radical biology & medicineGnetol targeting of TNFAIP3 promotes SLC7A11 ubiquitination and ferroptosis in osteoclasts to ameliorate osteoporosis.
Phytomedicine : international journal of phytotherapy and phytopharmacologyA Case of CACNA1I-Related Neurodevelopmental Disorder With Dysmorphism and Brain Iron Accumulation: Expanding the Clinical Spectrum.
Clinical geneticsThe Volatile Pentadecane From Bacillus Alleviates Plant Iron Deficiency Through Activating the Reduction-Based Fe Uptake System.
Plant biotechnology journalCarnosic acid alleviated periodontitis by inhibiting ferroptosis via the Nrf2/GPX4 pathway.
BMC oral healthEarly pathological changes in the liver and kidney of non-obese diabetic (NOD) mice: involvement of iron accumulation and ferroptosis.
Frontiers in endocrinologyMultilayered epigenetic regulation of iron homeostasis in plants: From chromatin remodeling to genome engineering.
Plant physiology and biochemistry : PPBA structural deletion in the 3'UTR of SLC11A2 is associated with altered iron status: Evidence from two large Danish cohorts.
British journal of haematologyInterplay between mTORC1 signaling and iron homeostasis in muscle atrophy.
Free radical biology & medicine[Mechanism of Tougu Xiaotong Capsules regulating Malat1 and mi R-16-5p ceRNA to alleviate "cholesterol-iron" metabolism disorder in osteoarthritis chondrocytes].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medicaTranscriptomic and proteomic profiling of Actinobacillus pleuropneumoniae responses to iron starvation.
Frontiers in cellular and infection microbiologyMaternal iron deficiency alters the expression of glucose transporters in offspring.
Journal of developmental origins of health and diseaseTotal favonoids of Desmodium Styracifolium relieve renal ischemia-reperfusion injury by suppressing ferroptosis through P53/SLC7A11/GPX4 signaling pathway.
Journal of bioenergetics and biomembranesMutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.
Annals of neurologyATF3 enhancement of CHAC1 expression: A pathway to neuronal ferroptosis in spinal cord injury.
Brain research bulletinPrecision Phototherapy Enabled by Decoding Complex Microenvironments.
Accounts of chemical researchIron: More than Meets the Eye.
NutrientsUnraveling the Mystery of Hemoglobin in Hypoxia-Accelerated Neurodegenerative Diseases.
Biomoleculesα-lipoic acid attenuates duodenal non-heme iron absorption via microRNA-mediated regulation of divalent metal transporter 1 in iron overloaded rats.
Molecular biology reportsIndoor Dust Increases the Risk of Iron-Loading Anemia in Mice through Exogenous Iron-Induced Ineffective Erythropoiesis.
Environmental science & technologyCholesterol and 24S-OHC Induce Neuronal Apoptosis and Necroptosis, but Not Ferroptosis Despite Elevated Iron Levels.
Molecular neurobiologyBDH2-driven lysosome-to-mitochondria iron transfer shapes ferroptosis vulnerability of the melanoma cell states.
Nature metabolismThe role and mechanism of ERalpha(ERα) in atrazine-induced disorders of hepatic iron metabolism.
Ecotoxicology and environmental safetyIntestinal hepcidin overexpression promotes iron deficiency anemia and counteracts iron overload via DMT1 downregulation.
BloodMolecular insights into the role of ferroptosis in cardiorenal cross-talk: Mechanisms and future directions.
Life sciencesIron Overload Accelerates Aging-Associated Kidney Injury in Mice: Implications for Iron Supplementation in the Elderly.
NutrientsFerroptosis-Resistant Adipocytes Drive Keloid Pathogenesis via GPX4-Mediated Adipocyte-Mesenchymal Transition and Iron-Cystine Metabolic Communication.
International journal of biological sciencesUnravelling the complex interplay between zinc, iron and their synergistic effect on LCPUFA metabolism in preeclampsia.
Prostaglandins, leukotrienes, and essential fatty acidsSGLT2 inhibitor therapy and lower incidence of iron deficiency anaemia in patients with type 2 diabetes: A retrospective cohort study from Germany.
Diabetes, obesity & metabolismExploring the effects of maternal anemia on neonatal neurodevelopment: a systematic review and meta-analysis.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansDeep Gray Matter Iron Deposition in NMOSD and MOGAD: A Comparative Study with MS.
Academic radiologyA novel application of LC-MS/MS accurately quantifies the labile redox pools of cellular coenzymes Q9 and Q10.
Free radical biology & medicineCadmium Inhibits Proliferation of Human Bronchial Epithelial BEAS-2B Cells Through Inducing Ferroptosis via Targeted Regulation of the Nrf2/SLC7A11/GPX4 Pathway.
International journal of molecular sciencesBaicalein attenuates metabolic dysfunction-associated steatohepatitis by regulating macrophage ferroptosis through nuclear factor (erythroid-derived 2)-like 2 pathway.
Free radical biology & medicineInfluence of plant-derived bioactive compounds on iron metabolism: mechanistic insights with translational relevance.
Critical reviews in food science and nutritionTRPM8 modulation alters uptake of Transferrin-mediated Fe3+, mitochondrial Fe2+ and intracellular Ca2+-levels in microglia.
Neurochemistry internationalCB2 and TRPV1 receptors in inflammatory state of macrophages from sickle cell anemia pediatric/young adults.
Scientific reportsEffect of Self-Assembled Polydopamine Nanoparticles on Ferroptosis in an MPTP-Induced Parkinson's Disease Mice Model.
ACS applied bio materialsThe cytochrome oxidase defect in ISC-depleted yeast is caused by impaired iron-sulfur cluster maturation of the mitoribosome assembly factor Rsm22.
FEBS lettersAn Analysis of AMPK and Ferroptosis in Cancer: A Potential Regulatory Axis.
Frontiers in bioscience (Landmark edition)Sitosterolemia carrying both ABCG5 and HBA gene mutations: a case report and review of the literature.
Journal of medical case reportsThe presence of a H. pylori infection blunted the upregulation of iron-related duodenal proteins in response to anemia.
The Journal of nutritional biochemistryDimethyl malonate preserves brain and neurobehavioral phenotype following neonatal hypoxia-ischemia by inhibiting FTH1-mediated ferritinophagy.
Redox biology3D printing combined with pH-induced 4D printed iron(III)-oxidized starch gels for controlled iron delivery and enhanced iron supplementation.
Carbohydrate polymersSLC39A13 Regulates Heart Function via Mitochondrial Iron Homeostasis Maintenance.
Circulation researchIron-Immune Crosstalk at the Maternal-Fetal Interface: Emerging Mechanisms in the Pathogenesis of Preeclampsia.
Antioxidants (Basel, Switzerland)TORC2 and MAPK signaling pathways regulate mitochondrial degradation induced by iron starvation in Schizosaccharomyces pombe.
The Journal of biological chemistryPIEZO1-GPX4 Axis Mediates Mechanical Stress-Induced Vertebral Growth Plate Dysplasia via Ferroptosis Activation.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Nanozyme-synbiotics to improve iron-deficiency anemia.
Colloids and surfaces. B, BiointerfacesAir pollution decreases postsynaptic PSD-95 and NMDA receptor subunits in synaptosomes from mouse cerebral cortex.
Environmental pollution (Barking, Essex : 1987)Prevalence of Restless Leg Syndrome and Its Association With Iron Deficiency in Patients With Chronic Kidney Disease: A Cross-Sectional Observational Study.
CureusAtp7a deficiency induces axonal and myelin developmental defects in zebrafish via ferroptosis.
Neurobiology of diseaseFe-deficiency-induced chlorosis 1 is essential for chloroplast iron transport and homeostasis under continuous light conditions in Arabidopsis.
Cell reportsSGLT2 inhibitors and their influence on iron metabolism in the context of inflammation.
British journal of pharmacologyThe Relationship Between Non-Transferrin-Bound Iron (NTBI), Labile Plasma Iron (LPI), and Iron Toxicity.
International journal of molecular sciencesDietary Heme Iron: A Review of Efficacy, Safety and Tolerability.
NutrientsVitamin K2 reprograms the multi-organ transcriptional landscape in mice with high-fat diet-induced obesity.
Food & functionPIEZO2 is the underlying mediator for precise magnetic stimulation of PVN to improve autism-like behavior in mice.
Journal of nanobiotechnologyCurrent Landscape of Hepcidin Therapeutics.
Advances in experimental medicine and biologyIron Metabolism in Cardiovascular Disease.
Advances in experimental medicine and biologyIron, Hepcidin, and Immunity.
Advances in experimental medicine and biologyDiagnosis and Management of Non-HFE Hemochromatosis, Ferroportin Disease, and Rare Hereditary Iron-Loading Disorders.
Advances in experimental medicine and biologySystemic Iron Metabolism.
Advances in experimental medicine and biologyRust and redemption: iron-sulfur clusters and oxygen in human disease and health.
Metallomics : integrated biometal scienceA novel TIMM8A mutation in Mohr-Tranebjaerg syndrome without hearing loss and with basal ganglia iron deposition.
Orphanet journal of rare diseasesHerbacetin alleviates ferroptosis via Hif-1α/SLC7A11/GPX4 axis in traumatic brain injury.
Free radical biology & medicineMechanisms of micro- and nanoplastics on blood-brain barrier crossing and neurotoxicity: Current evidence and future perspectives.
NeurotoxicologyMolecular pathologies and therapies for Pelizaeus-Merzbacher disease.
Brain & developmentImplementation of guidelines for intravenous iron therapy in heart failure patients.
ESC heart failureUpdate of the sideroflexin (SLC56) gene family.
Human genomicsPaeoniflorin mitigates iron overload-induced osteoarthritis by suppressing chondrocyte ferroptosis via the p53/SLC7A11/GPX4 pathway.
International immunopharmacology[Hereditary haemochromatosis due to hepcidin resistance].
Ugeskrift for laeger[A case of type 4A familial hereditary hemochromatosis].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologyIron retention coupled with trade-offs in localized symbiotic effects confers tolerance to combined iron deficiency and drought in soybean.
Journal of experimental botanyFerric-Chelate Reductase FRO3 Is Involved in Iron Homeostasis in Table Grape and Enhanced Plant Tolerance to Iron-Deficient Conditions.
International journal of molecular sciences3D-QSAR based computational screening of potent ligands against L-type calcium channel (LTCC) protein structure for iron overload in β-thalassemia.
Computers in biology and medicineQuercetin, as a Nutritional Supplement, Protects against Iron Overload-Induced Testicular Dysfunction via Inhibiting Ferroptosis.
Journal of agricultural and food chemistryIron homeostasis and health: understanding its role beyond blood health - a narrative review.
Annals of medicine and surgery (2012)Development of rat and mouse models of heme-iron absorption.
JCI insightClinical Outcomes of Intravenous Iron Therapy in Systolic Heart Failure Patients Receiving SGLT2 Inhibitors.
The American journal of cardiologyCalcium-iron crosstalk in epileptogenesis: Unraveling mechanisms and therapeutic opportunities.
Neurobiology of diseaseIron metabolism disorder and artesunate inhibiting tumor growth by inducing ferroptosis in Lymphangioleiomyomatosis.
Respiratory researchInterfering with AQP1 alleviates ferroptosis, improves mitochondrial function and energy metabolic disorder in hypoxia/reoxygenation-induced H9c2 cardiomyocytes via Wnt/β-catenin pathway.
Microvascular researchIron Replacement Attenuates Hypoxic Pulmonary Hypertension by Remodeling Energy Metabolism via Regulating the HIF2α/Mitochondrial Complex I, III/ROS Axis.
BiomoleculesGlucose deprivation-restoration induces labile iron overload and ferroptosis in renal tubules through V-ATPase-mTOR axis-mediated ferritinophagy and iron release by TPC2.
Free radical biology & medicineA Salmonella subset exploits erythrophagocytosis to subvert SLC11A1-imposed iron deprivation.
Cell host & microbeAbnormal Brain Iron Metabolism is Linked to Altered Neural Function in Isolated Laryngeal Dystonia.
Movement disorders : official journal of the Movement Disorder SocietyCisd1 synergizes with Cisd2 to modulate protein processing by maintaining mitochondrial and ER homeostasis.
AgingIron Metabolism and the Role of Iron Therapy in Pediatric Restless Leg Syndrome.
Sleep medicine clinicsHypoferremic Response to Chronic Inflammation Is Controlled via the Hemojuvelin/Hepcidin/Ferroportin Axis and Does Not Involve Hepcidin-Independent Regulation of Fpn mRNA.
American journal of hematologyUncovering a Novel Pathogenic Mechanism of BCS1L in Mitochondrial Disorders: Insights from Functional Studies on the c.38A>G Variant.
International journal of molecular sciencesCadmium 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)Unraveling the Serum Protein Landscape in Celiac Disease: Current Evidence and Future Directions.
Immunity, inflammation and diseaseIron Deficiency Anemia Linked to Severe Pediculosis Capitis in a 12-Year-Old Boy.
The American journal of case reportsConsensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2.
Journal of inherited metabolic diseasemiR-4478 Promotes Ferroptosis of Nucleus Pulposus Cells through Targeting SLC7A11 to Induce IVDD.
Folia biologicaAstragenol alleviates neuroinflammation and improves Parkinson's symptoms through amino acid metabolism pathway and inhibition of ferroptosis.
Journal of ethnopharmacologyGlutathione Decreases Parkinsonism-Induced Ferroptosis and Oxidative Stress Through the Inhibition of the TRPM2 Channel in Neuronal Cells.
Pharmacology research & perspectivesThe roles and mechanisms of CDGSH iron-sulfur domain 1 in kainic acid-induced mitochondrial iron overload, dysfunction and neuronal damage.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieDelayed Upper Gastrointestinal Motility in Mice Treated with Oral Iron Tablets.
Biological & pharmaceutical bulletinGentiopicroside Attenuated Dopaminergic Neurodegeneration via Inhibiting Neuroinflammatory Responses and Ferroptosis in Experimental Models of Parkinson's Disease.
Basic & clinical pharmacology & toxicologyPTPN2 Regulates Iron Handling Protein Expression in Inflammatory Bowel Disease Patients and Prevents Iron Deficiency in Mice.
International journal of molecular sciencesEvidence of Oxytosis/Ferroptosis in Niemann-Pick Disease Type C.
International journal of molecular sciencesReactive astrocyte-derived exosomes enhance intracranial lymphatic drainage in mice after intracranial hemorrhage.
Fluids and barriers of the CNSGenome-wide identification and analysis of the apple H+-ATPase gene family and its expression against iron deficiency stress.
BMC plant biologyCritical Importance of Iron Saturation in Lactoferrin: Effects on Biological Activity, Nutritional Functions, and Applications.
Journal of agricultural and food chemistryTargeting mitochondria-regulated ferroptosis: A new frontier in Parkinson's disease therapy.
NeuropharmacologyA computational study of the fold and stability of cytochrome c with implications for disease.
International journal of biological macromoleculesAbnormal iron metabolism in the zona incerta in Parkinson's disease mice.
Journal of neural transmission (Vienna, Austria : 1996)Women with Symptoms Suggestive of ADHD Are More Likely to Report Symptoms of Iron Deficiency and Heavy Menstrual Bleeding.
NutrientsCharacterization of the Priestia megaterium ZS-3 siderophore and studies on its growth-promoting effects.
BMC microbiologyHypermagnesemia with Dystonia Type 2: Case Report of a New SLC30A10 Variant.
Journal of pharmacy & bioallied sciencesThe anti-Alzheimer's disease effects of ganoderic acid A by inhibiting ferroptosis-lipid peroxidation via activation of the NRF2/SLC7A11/GPX4 signaling pathway.
Chemico-biological interactionsEupatilin mitigates ICH-induced brain injury via SOX2/SLC7A11 regulation of ferroptosis.
Naunyn-Schmiedeberg's archives of pharmacologyAnemia Management in the Cardiorenal Patient: A Nephrological Perspective.
Journal of the American Heart AssociationStudies of Slc30a10 Deficiency in Mice Reveal That Intestinal Iron Transporters Dmt1 and Ferroportin Transport Manganese.
Cellular and molecular gastroenterology and hepatologyElesclomol rescues mitochondrial copper deficiency in disease models without triggering cuproptosis.
The Journal of pharmacology and experimental therapeuticsIron Overload-Related Oxidative Stress Leads to Hyperphosphorylation and Altered Anion Exchanger 1 (Band 3) Function in Erythrocytes from Subjects with β-Thalassemia Minor.
International journal of molecular sciencesTranscriptome and metabolome analysis reveal the mechanisms of iron absorption differences in apple rootstocks under alkaline condition.
Physiologia plantarumIron-Deficiency Anemia Elevates Risk of Diabetic Kidney Disease in Type 2 Diabetes Mellitus.
Journal of diabetesInvolvement of iron ions in 6-hydroxydopamine-induced disruption of intracellular copper metabolism.
Free radical researchNeonatal sevoflurane exposures inhibits DHHC5-mediated palmitoylation of TfR1 in oligodendrocytes, leading to hypomyelination and neurological impairments.
Journal of advanced researchKey role of the CSE/transsulfuration pathway in macrophage phenotypic change under iron overload.
Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS)Neurochemical alterations in the cerebellum of Friedreich's Ataxia mouse models.
Experimental neurologyDefective Slc7a7 transport reduces erythropoietin compromising erythropoiesis.
Molecular medicine (Cambridge, Mass.)Mechanisms Underlying Iron Deficiency-Induced Cardiac Disorders: Implications for Treatment.
Discovery medicinem6A Demethylase FTO-Mediated Upregulation of BAP1 Induces Neuronal Ferroptosis via the p53/SLC7A11 Axis in the MPP+/MPTP-Induced Parkinson's Disease Model.
ACS chemical neuroscienceMechanism and regulation of iron absorption throughout the life cycle.
Journal of advanced researchPeripheral blood immune cells from individuals with Parkinson's disease or inflammatory bowel disease share deficits in iron storage and transport that are modulated by non-steroidal anti-inflammatory drugs.
Neurobiology of diseaseThe Roles of DMT1 in Inflammatory and Degenerative Diseases.
Molecular neurobiologyThe Neural Palette of Heme: Altered Heme Homeostasis Underlies Defective Neurotransmission, Increased Oxidative Stress, and Disease Pathogenesis.
Antioxidants (Basel, Switzerland)Cell-free hemoglobin released from hemolysis induces programmed cell death through iron overload and oxidative stress in grass carp (Ctenopharyngodon idella).
Fish & shellfish immunologyIron in the migraine brain.
Histology and histopathologyNeurovascular unit impairment in iron deficiency anemia.
NeuroscienceIron deficiency promotes intra-leaflet hemorrhage-induced aortic valve calcification: an experimental study.
International journal of surgery (London, England)PRKAA2 Promotes Tumor Growth and Inhibits Ferroptosis through SLC7A11/GSH/GPX4 Pathway in Non-Small Cell Lung Cancer.
Biotechnology and applied biochemistryTherapeutic potential of 5-aminolevulinic acid in metabolic disorders: Current insights and future directions.
iScienceThe Role of Trace Elements in COPD: Pathogenetic Mechanisms and Therapeutic Potential of Zinc, Iron, Magnesium, Selenium, Manganese, Copper, and Calcium.
NutrientsHepcidin as a therapeutic target in iron overload.
Expert opinion on therapeutic targetsMacrophage P2Y12 regulates iron transport and its inhibition protects against atherosclerosis.
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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.
- Characterization of ferroportin disease and SLC40A1-related hemochromatosis - Results from the EASL non-HFE registry.
- The therapeutic potential of Piezo1 channel-mediated ferroptosis and its inhibitor.
- Mitochondrial Iron Handling and Lipid Peroxidation as Drivers of Ferroptosis.
- COG5 deficiency disrupts cellular copper homeostasis and underlies the impaired mitochondrial OXPHOS function.
- Cell-type resolved protein atlas of brain lysosomes identifies SLC45A1-associated disease as a lysosomal disorder.
- Placental iron transport under maternal stress: a missing link in foetal programming and mental health.
- Therapeutic Potentials of Phytochemicals in Pancreatitis: Targeting Calcium Signaling, Ferroptosis, microRNAs, and Inflammation with Drug-Likeness Evaluation.
- CISD2 ensures adequate ER-mitochondrial coupling, critically supporting mitochondrial function in neurons.
- A homology-based 3D model and structure-function studies reveal key elements for divalent metal ion transporter ZIP8 (SLC39A8) function.
- Fe-deficiency-induced chlorosis 1 is essential for chloroplast iron transport and homeostasis under continuous light conditions in Arabidopsis.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:309842(Orphanet)
- MONDO:0017763(MONDO)
- GARD:21355(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q6072985(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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