Raras
Buscar doenças, sintomas, genes...
Alteração do metabolismo do zinco
ORPHA:309845CID-10 · E83.2DOENÇA RARA

Adderall e Mydayis são nomes comerciais de uma associação medicamentosa composta por quatro sais de anfetamina. Essa associação é formada por partes iguais de anfetamina e dextroanfetamina em suas formas racêmicas. O medicamento final é composto por 75% de dextroanfetamina e por 25% de levanfetamina, que são dois enantiômeros da anfetamina. Esses enantiômeros agem como estimulantes, mas possuem um mecanismo de ação único, o que confere ao Adderall um perfil farmacológico distinto de outros medicamentos estimulantes, como os que são compostos apenas por anfetamina ou por dextroanfetamina em suas misturas racêmicas, que são comercializados, respectivamente, sob os nomes comerciais de Evekeo e Dexedrina/Zenzedi.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Doença rara do metabolismo do zinco, caracterizada por distúrbios neurológicos (marcha, hipotonia), cutâneos (erupção, queilite), imunológicos e vasculares. Pode apresentar camptocormia, anormalidades na língua e hipertensão.

🏥
SUS: Cobertura mínimaScore: 20%
Centros em: PA, PR, SC, RS, ES +8CID-10: E83.2
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

🧠
Neurológico
12 sintomas
🧬
Pele e cabelo
10 sintomas
👁️
Olhos
10 sintomas
📏
Crescimento
8 sintomas
🫃
Digestivo
5 sintomas
🫘
Rins
5 sintomas

+ 34 sintomas em outras categorias

Características mais comuns

Distúrbio da marcha
Camptocormia
Anormalidade da língua
Imunodeficiência
Erupção cutânea
Vasculite
93sintomas
Sem dados (93)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 93 características clínicas mais associadas, ordenadas por frequência.

Distúrbio da marchaGait disturbance
Camptocormia
Anormalidade da línguaAbnormality of the tongue
ImunodeficiênciaImmunodeficiency
Erupção cutâneaSkin rash

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa3
Últimos 10 anos200publicações
Pico2025132 papers
Linha do tempo
2023Hoje · 2026🧪 2009Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

3 genes identificados com associação a esta condição.

PSTPIP1Proline-serine-threonine phosphatase-interacting protein 1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Involved in regulation of the actin cytoskeleton. May regulate WAS actin-bundling activity. Bridges the interaction between ABL1 and PTPN18 leading to ABL1 dephosphorylation. May play a role as a scaffold protein between PTPN12 and WAS and allow PTPN12 to dephosphorylate WAS. Has the potential to physically couple CD2 and CD2AP to WAS. Acts downstream of CD2 and CD2AP to recruit WAS to the T-cell:APC contact site so as to promote the actin polymerization required for synapse induction during T-c

LOCALIZAÇÃO

CytoplasmCell membraneCell projection, uropodiumCytoplasm, cytoskeletonCytoplasm, perinuclear regionCell projection, lamellipodiumCleavage furrow

VIAS BIOLÓGICAS (2)
Purinergic signaling in leishmaniasis infectionThe NLRP3 inflammasome
MECANISMO DE DOENÇA

Pyogenic sterile arthritis, pyoderma gangrenosum, and acne

A rare autosomal dominant autoinflammatory disease that typically presents with recurrent sterile, erosive arthritis in childhood, occurring spontaneously or after minor trauma, occasionally resulting in significant joint destruction. By puberty, joint symptoms tend to subside and cutaneous symptoms increase. Cutaneous manifestations include pathergy, frequently with abscesses at the sites of injections, severe cystic acne, and recurrent nonhealing sterile ulcers, often diagnosed as pyoderma gangrenosum.

EXPRESSÃO TECIDUAL(Ubíquo)
Sangue
99.1 TPM
Baço
47.7 TPM
Pulmão
14.8 TPM
Aorta
11.8 TPM
Linfócitos
7.5 TPM
OUTRAS DOENÇAS (2)
pyogenic arthritis-pyoderma gangrenosum-acne syndromehyperzincemia with functional zinc depletion
HGNC:9580UniProt:O43586
SLC39A4Zinc transporter ZIP4Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Selective transporter that mediates the uptake of Zn(2+) (PubMed:17202136, PubMed:22242765, PubMed:27321477, PubMed:28875161, PubMed:31164399, PubMed:31914589, PubMed:31979155, PubMed:33837739, PubMed:36473915). Plays an essential role for dietary zinc uptake from small intestine (By similarity). The Zn(2+) uniporter activity is regulated by zinc availability (PubMed:17202136, PubMed:32348750). Also exhibits polyspecific binding and transport of Cu(2+), Cd(2+) and possibly Ni(2+) but at higher c

LOCALIZAÇÃO

Cell membraneRecycling endosome membraneApical cell membrane

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

Acrodermatitis enteropathica, zinc-deficiency type

A rare autosomal recessive disease caused by the inability to absorb sufficient zinc. The clinical features are growth retardation, immune-system dysfunction, alopecia, severe dermatitis, diarrhea and occasionally mental disorders.

EXPRESSÃO TECIDUAL(Ubíquo)
Intestino delgado
56.6 TPM
Cólon transverso
26.2 TPM
Rim - Córtex
22.0 TPM
Tireoide
19.6 TPM
Rim - Medula
17.8 TPM
OUTRAS DOENÇAS (1)
acrodermatitis enteropathica
HGNC:17129UniProt:Q6P5W5
SLC30A9Proton-coupled zinc antiporter SLC30A9, mitochondrialDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Mitochondrial proton-coupled zinc ion antiporter mediating the export of zinc from the mitochondria and involved in zinc homeostasis, zinc mobilization as well as mitochondrial morphology and health (PubMed:28334855, PubMed:34397090, PubMed:34433664, PubMed:35614220). In nucleus, functions as a secondary coactivator for nuclear receptors by cooperating with p160 coactivators subtypes. Plays a role in transcriptional activation of Wnt-responsive genes (By similarity)

LOCALIZAÇÃO

Mitochondrion membraneNucleusEndoplasmic reticulum

MECANISMO DE DOENÇA

Birk-Landau-Perez syndrome

An autosomal recessive syndrome characterized by early-childhood onset of different combinations of intellectual disability, muscle weakness, camptocormia, oculomotor apraxia, and nephropathy.

EXPRESSÃO TECIDUAL(Ubíquo)
Cérebro - Hemisfério cerebelar
40.2 TPM
Fibroblastos
37.3 TPM
Pituitária
35.9 TPM
Brain Frontal Cortex BA9
31.4 TPM
Nervo tibial
30.7 TPM
OUTRAS DOENÇAS (1)
psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
HGNC:1329UniProt:Q6PML9

Variantes genéticas (ClinVar)

296 variantes patogênicas registradas no ClinVar.

🧬 PSTPIP1: NM_003978.5(PSTPIP1):c.838+38C>A ()
🧬 PSTPIP1: GRCh37/hg19 15q24.1-26.3(chr15:73506509-102429112)x3 ()
🧬 PSTPIP1: GRCh37/hg19 15q24.1-25.2(chr15:74979036-81960184)x1 ()
🧬 PSTPIP1: NM_003978.5(PSTPIP1):c.860A>G (p.Tyr287Cys) ()
🧬 PSTPIP1: NM_003978.5(PSTPIP1):c.574A>G (p.Arg192Gly) ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

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.
3Fase 31
2Fase 22
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 3 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Alteração do metabolismo do zinco

Centros de Referência SUS

21 centros habilitados pelo SUS para Alteração do metabolismo do zinco

Centros para Alteração do metabolismo do zinco

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

NUPAD / Faculdade de Medicina UFMG

Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226

Serviço de Referência

Rota
Erros Inatos do Metabolismo

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da Universidade Federal de Pernambuco

Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492

Atenção Especializada

Rota
Erros Inatos do Metabolismo

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Onofre Lopes (HUOL)

Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570

Atenção Especializada

Rota
Erros Inatos do Metabolismo

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Erros Inatos do Metabolismo

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

0 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

In Vitro Studies of the Effects of Antithrombotic Zn-Dipicolylamine-Harboring Liposomes (DPALs) on Serum Albumin and Human Umbilical Vein Endothelial Cells.

International journal of molecular sciences2026 Feb 28

Thrombosis remains a leading cause of cardiovascular morbidity and mortality. During thrombosis, activated platelets and endothelial cells expose phosphatidylserine (PS) on their outer membranes, creating a surface that accelerates clot formation. Current antithrombotic therapies, such as heparin and warfarin, carry significant bleeding risks, highlighting the need for safer alternatives. In response, we developed a PS-targeting liposomal formulation composed of Zn-dipicolylamine (DPA)-cyanine-3[22,22] and 1-palmitoyl-2-oleoyl-sn-glycero-3-phosphocholine (molar ratio 3:97). This DPA-harboring liposome (DPAL) binds selectively to PS-rich surfaces such as activated platelets and has demonstrated efficacy in reducing thrombosis in mouse models, with minimal bleeding. In the present study, we examined the interaction of DPAL with albumin, the most abundant plasma protein and a key transporter in the bloodstream, to assess the potential for harmful protein aggregation or structural disruption. Using dynamic light scattering and intrinsic protein fluorescence, we found that, unlike warfarin and heparin, DPAL does not induce any large protein aggregates or cause significant conformational changes near the tryptophan residue when mixed with human serum albumin, suggesting a favorable interaction profile. In addition, we used transwell permeability assays and CyQUANT cell proliferation assays to assess the cytotoxicity of DPAL in cultured human umbilical vein endothelial cells (HUVECs). Our results showed that DPAL does not compromise endothelial barrier integrity in HUVEC monolayers nor the cells' viability. Our current and previous findings together suggest that DPAL could offer a promising approach to modulate harmful coagulation pathways and provide a new targeted therapeutic strategy for managing thrombotic disorders.

#2

Molecular and immunological heterogeneity of eosinophilic esophagitis: Insights and subtyping.

PloS one2026

Eosinophilic esophagitis (EoE) and its related subtypes-such as EoE-like esophagitis, lymphocytic esophagitis, and nonspecific esophagitis-pose significant diagnostic challenges due to overlapping clinical, histological, and endoscopic features. Although conventional EoE is well-characterized as a Th2-mediated disorder, the molecular and immunological drivers for its subtypes are poorly understood. We aimed to elucidate the unique molecular signatures underlying these esophageal inflammatory conditions, with the goal of refining disease classification and paving way to targeted therapeutic approaches. We performed an integrative multi-omics analysis incorporating differential gene expression profiling, weighted gene co-expression network analysis (WGCNA), functional enrichment studies, and machine-learning algorithms to identify molecular hallmarks that differentiate EoE from its subtypes. After examining subtype specific alteration in immune and metabolic pathways, novel biomarkers and regulatory mechanisms were uncovered. Conventional EoE exhibited a distinct upregulation of periostin (POSTN), reinforcing extracellular matrix remodeling as its primary pathogenic mechanism. We identified DNAH11 as a key player in epithelial turnover and esophageal dysmotility, revealing its previously unrecognized role in EoE pathogenesis. Suppressed zinc-related pathways (MT1X, MT1F, MT2A) suggest epithelial barrier dysfunction, with differential zinc transporter expression (SLC39A1, SLC39A2) indicating disruptions in zinc homeostasis, which may have therapeutic implications. Additionally, aberrant CDX2 expression linked to methyl-CpG binding proteins suggests an epigenetic contribution to esophageal epithelial remodeling, hinting at metaplasia-like processes in chronic EoE. In contrast, EoE-like esophagitis was primarily immune-driven, marked by CXCR3 ligand activation (CXCL9, CXCL10, CXCL11) and immunoglobulin complex enrichment, indicating systemic immune dysregulation and a potential precursor state to conventional EoE. Lymphocytic esophagitis demonstrated unique signature of metabolic dysfunction, with downregulation of oxidative phosphorylation genes (NDUFB2, ATP5F1B) and enrichment of neuro-immune signaling pathways, pointing at interplay between mitochondrial impairment and esophageal sensory dysfunction. A robust interferon-mediated immune response (STAT1, IRF1 and CXCL10) further differentiated the latter subtype from Th2-driven conventional EoE. Nonspecific esophagitis exhibited a dominant humoral immune response, enriched for immunoglobulin-related pathways, suggestive of a B-cell-driven inflammatory mechanism distinct from the T-cell-dominated responses of other EoE subtypes. This study unveils novel molecular and immunological distinctions between conventional EoE and its subtypes. We propose that EoE-like esophagitis represents an early immune-activated phase, while lymphocytic and nonspecific esophagitis exhibit distinct metabolic and humoral immune dysregulations, respectively. Key biomarkers, POSTN, DNAH11, CDX2, and zinc transporters, offer critical insights for improving diagnostic criteria and guiding therapeutic approaches. These findings highlight the importance of subtype-specific therapeutic interventions and warrant longitudinal studies to map disease trajectories and therapeutic responses across EoE and its variants.

#3

Bacterial reporter-paired scRNA sequencing reveals cross talk between zinc starvation and zinc toxicity in macrophage antibacterial defense.

Proceedings of the National Academy of Sciences of the United States of America2026 Mar 17

Mechanisms by which macrophages deploy antibacterial zinc toxicity are poorly understood. To gain insight into this antimicrobial pathway, we developed bacterial reporter-paired single-cell RNA sequencing of human monocyte-derived macrophages (HMDM) infected with an Escherichia coli zinc-stress reporter strain. We identified HMDM subpopulations harboring zinc-stressed E. coli and corresponding mammalian genes predicted to be associated with either zinc toxicity or survival of zinc-stressed bacteria. Consistent with the latter, SLC30A4 that encodes zinc exporter ZNT4 was enriched in one subpopulation of HMDM containing zinc-stressed E. coli and its overexpression in human macrophages increased intracellular E. coli survival. At a population level, SLC30A4 expression was rapidly downregulated in human macrophages responding to E. coli and its ectopic expression in macrophages attenuated zinc starvation of intracellular E. coli. This is consistent with a model in which macrophages switch off SLC30A4 to engage zinc starvation, while also deploying zinc toxicity against bacteria adapting to a low-zinc environment. Consistent with this, intramacrophage E. coli rapidly upregulated znuA messenger RNA (mRNA) that is induced during zinc limitation, with zntA mRNA that is induced during zinc stress peaking later. Moreover, E. coli cultured under conditions of zinc limitation displayed greatly enhanced zinc sensitivity. Susceptibility of zinc-sensitive E. coli to killing by macrophages was also attenuated when zinc uptake by E. coli was inactivated, confirming the coordinated actions of zinc starvation and zinc toxicity in macrophage antibacterial responses. Strategies that enhance zinc starvation of intracellular bacteria could be exploited in the design of host-directed therapeutics that amplify macrophage-mediated antibacterial zinc toxicity.

#4

Nutrigenomic profiling identifies ZIP10 (SLC39A10) as a regulator of erythroid zinc homeostasis with genetic associations to anemia risk.

Proceedings of the National Academy of Sciences of the United States of America2026 Feb 24

Erythroid progenitors undergo dynamic morphological changes and robust heme biosynthesis during differentiation. Zinc is essential for erythropoiesis, yet the mechanisms linking zinc availability to heme biosynthesis and anemia risk remain unclear. This study aimed to define zinc-responsive pathways in differentiating erythroid progenitors and to evaluate the translational relevance of SLC39A10 (ZIP10) genetic variants to hematological health. To elucidate the molecular basis of zinc's role in erythropoiesis, we performed transcriptomic profiling of zinc-restricted G1E-ER4 cells during differentiation and compared it to iron chelation and δ-aminolevulinic acid dehydratase inhibition. Zinc deficiency uniquely enriched genes involved in not only heme biosynthesis but cellular maintenance functions. Zinc restriction caused a marked suppression of Alad transcript abundance, impairing the first enzymatic step of cytosolic heme biosynthesis. Notably, Slc39a10 (Zip10) was the only zinc transporter strongly induced by zinc deficiency, independent of iron status. Loss of ZIP10 exacerbated zinc depletion, further reduced Alad expression, and diminished heme output, highlighting its role as a compensatory importer during zinc scarcity. GWAS database analyses revealed that SLC39A10 variants are significantly associated with hemoglobin concentration, hematocrit, and iron deficiency anemia risk. Together, ZIP10 safeguards erythroid zinc homeostasis and heme synthesis under limiting zinc conditions. Genetic variation in SLC39A10 may heighten sensitivity to zinc deficiency, providing a potential nutrigenetic marker for anemia risk. These findings establish a mechanistic and translational basis for genotype-guided precision nutrition strategies to improve hematological health.

#5

Type 1 Diabetes: A Review.

JAMA2026 Mar 24

Type 1 diabetes is defined by hyperglycemia due to autoimmune destruction of the insulin-producing beta cells in the pancreas, leading to insulin deficiency, and accounts for 5% to 10% of all cases of diabetes. Type 1 diabetes affects approximately 2 million people in the US and 8.4 million people worldwide and is associated with microvascular and macrovascular complications such as retinopathy, nephropathy, neuropathy, and cardiovascular disease. Ninety percent to 95% of people with type 1 diabetes have at least 1 autoantibody when they are diagnosed with diabetes. These autoantibodies include autoantibodies to insulin, glutamic acid decarboxylase 65, insulinoma-associated 2, and zinc transporter 8 autoantibodies and are absent in type 2 diabetes or monogenic diabetes (a rarer form of diabetes caused by a single genetic variant). These autoantibodies are present before clinical symptoms develop and can identify early stages of type 1 diabetes. Up to 44% of children and 23% of adults with type 1 diabetes present with diabetes-related ketoacidosis. Type 1 diabetes is most commonly diagnosed between ages 10 and 14 years, but the median age of diagnosis in the US is 24 years. People with type 1 diabetes require lifelong insulin replacement, which can be administered via subcutaneous injection or insulin pump. Insulin regimens that mimic normal physiology include long-acting basal insulin (eg, glargine or degludec) administered once to twice daily and rapid-acting bolus insulin (eg, aspart or lispro) administered prior to meals that contain carbohydrates and during periods of hyperglycemia. Randomized clinical trials have demonstrated that continuous glucose monitors with insulin pumps, which automatically adjust insulin delivery in response to glucose levels, result in less hypoglycemia and improved hemoglobin A1c levels (with the greatest improvement occurring in those with higher starting levels [eg, >8.0%]). Type 1 diabetes accounts for 5% to 10% of all cases of diabetes and is characterized by the presence of islet autoantibodies in 90% to 95% of patients. Lifelong use of insulin therapy is currently required for treatment of type 1 diabetes.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 200

2026

The role of zinc transporter 1 (ZnT1) in health and disease: From molecular mechanisms to therapeutic opportunities.

European journal of medicinal chemistry
2026

The ROS-triggered antibacterial mechanism of zinc oxide nanoparticles against Xanthomonas citri subsp. citri for citrus canker management.

Pesticide biochemistry and physiology
2026

In Vitro Studies of the Effects of Antithrombotic Zn-Dipicolylamine-Harboring Liposomes (DPALs) on Serum Albumin and Human Umbilical Vein Endothelial Cells.

International journal of molecular sciences
2026

Molecular and immunological heterogeneity of eosinophilic esophagitis: Insights and subtyping.

PloS one
2026

Bacterial reporter-paired scRNA sequencing reveals cross talk between zinc starvation and zinc toxicity in macrophage antibacterial defense.

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

bZIP63.5 Regulates a Zinc-Finger Mediated Detoxification Network in Trichoderma Harzianum for Enhanced Biocontrol of Alternaria alternata.

Microbial biotechnology
2026

A Novel Autoimmune Presentation of Wiskott-Aldrich Syndrome: Type 1 Diabetes.

Immunity, inflammation and disease
2026

Nutrigenomic profiling identifies ZIP10 (SLC39A10) as a regulator of erythroid zinc homeostasis with genetic associations to anemia risk.

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

Type 1 Diabetes: A Review.

JAMA
2026

MG53 mediates skeletal muscle-liver cross-talk and enhances alcohol metabolism in alcoholic liver disease.

Nature communications
2026

Genetic dissection of signalling pathways that mediate iron-related tumor growth in a Drosophila model.

PLoS genetics
2026

Ethanol Alters DNMT1/3a/3b Expression Profile, Promotes Persistent DNA Hypomethylation in Human Brain Endothelial Cells and Impairs Late Cortical Angiogenesis.

Journal of neurochemistry
2026

An emerging role for synaptic Zn2+ in substance use disorders.

Pharmacology & therapeutics
2026

ZFT is the major iron and zinc transporter in Toxoplasma gondii.

eLife
2026

MT1E binds to LncRNA NEAT1 to regulate SLC39A14-mediated ferroptosis in the pathogenesis of aortic dissection.

Experimental cell research
2026

Cryo-EM Brings the Mechanisms of Activation, Inactivation, and Inhibition of Ryanodine Receptors into Focus.

Advances in experimental medicine and biology
2026

Molecular Genetics of β-Cell Compensation in Gestational Diabetes Mellitus: Insights from CDKAL1, SLC30A8 and HHEX.

International journal of molecular sciences
2025

SLC30 (ZnT) and SLC39 (ZIP) zinc transporter families: from gatekeepers of zinc homeostasis to promoters of tumorigenesis and targets for clinical therapy.

Frontiers in immunology
2026

Core-shell heterostructured nanozyme for alveolar echinococcosis treatment via targeted electron transfer and catalytic reactive oxygen species generation.

Journal of colloid and interface science
2026

Integrated multi-omics and machine learning identify an interaction between SLC39A11 and phosphoinositide metabolism in deep vein thrombosis.

BMC medical informatics and decision making
2026

Roles of zinc in the gut-liver axis.

Annals of hepatology
2026

Associations of body weight and COVID-19 with autoimmunity in pediatric new-onset type 1 diabetes: results from the prospective DPV registry.

BMJ open diabetes research & care
2025

ZNF454-FSTL3 axis inhibits colorectal cancer progression by inhibiting HIF-1α-mediated glycolysis in hypoxia.

Journal of gastrointestinal oncology
2026

Zinc-α₂-glycoprotein overexpression attenuates gasdermin D-mediated pyroptosis in dopaminergic neurons by suppressing reactive oxygen species/mitogen-activated protein kinase signaling.

International journal of biological macromolecules
2026

ZIP10 drives radioresistance and malignant progression in lung adenocarcinoma by inhibiting the Hippo pathway via a Zinc-LATS axis.

Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology
2026

The role of zinc homeostasis in major depressive disorder: heterogeneous pathological mechanisms and therapeutic implications.

Annals of medicine
2025

ZnT3-TMEM163 Mediates Zinc Homeostasis Imbalance Induced Neurodegeneration in Hippocampus.

Frontiers in bioscience (Landmark edition)
2026

DIA-based quantitative proteomics reveals the mechanism of foliar spraying glycine betaine and zinc in improving the quality of dry-cultivated rice.

Plant physiology and biochemistry : PPB
2026

Deletion of tonB1 in Pseudomonas aeruginosa impairs zinc homeostasis and pathogenicity.

Applied and environmental microbiology
2026

Impact of bovine respiratory disease on tissue-specific regulation of Zn and vitamin a metabolism and apparent absorption and retention of trace minerals.

Journal of animal science
2025

Molecular Portrait of Autoantigens in Type 1 Diabetes.

Biomolecules
2025

Iron metabolism disorder promotes postovulatory oocyte aging by inducing oxidative stress damage.

Life medicine
2026

Dravet Syndrome Patient-Derived Neural Cells Present Altered Levels of Potassium, Copper, and Zinc.

ACS chemical neuroscience
2025

A novel accessible in vitro model of proliferative vitreoretinal diseases shows facilitated epithelial mesenchymal transition through aquaporin-1.

Scientific reports
2025

Cluster-specific genetic associations of CDKAL1, CDKN2A, CDKN2B, HHEX, KCNQ1, MTNR1B, PAX4, SLC30A8, TCF7L2, and UBE2E2 variants in new onset type 2 diabetes.

Scientific reports
2026

Structural insights into zinc piracy by Neisseria gonorrhoeae to overcome nutritional immunity.

Structure (London, England : 1993)
2025

O08 The elemental clue: a case series of Acrodermatitis enteropathica in a tertiary centre.

The British journal of dermatology
2025

Small RNA-mediated regulation of cross-kingdom gene expression in sugar beet genotypes resistant and susceptible to rhizomania.

The Journal of general virology
2025

IDEDNIK syndrome: a newly recognized rare genetic disorder caused by AP1S1 and AP1B1 mutations.

Frontiers in neurology
2025

Modulation of adipose inflammation and mitochondrial pathways by a yeast-derived β-1,3/1,6-glucan and vitamin complex: an open-label pilot study of Lalmin® immune pro in older overweight adults.

Frontiers in nutrition
2025

A New Toolbox to Label Zinc-MTF1 Responsive Neuronal Populations Unravels Cellular Congruence between MTF1 Responses and T-type Calcium Channelopathies in an Experimental Model of Epilepsy.

Molecular neurobiology
2025

Loss-of-function variant of SLC30A8 rs13266634 (C > T) protects against type 2 diabetes by stabilizing ZnT8: Insights from epidemiological and computational analyses.

Journal, genetic engineering & biotechnology
2025

Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi's Varicelliform Eruption.

The American journal of case reports
2026

Identification of genes underlying nigrostriatal iron accumulation: transcriptome-wide association study of iron-sensitive brain MRI.

EBioMedicine
2025

Chios Mastic Gum Extract Enhances Antioxidant Defense in Zebrafish.

International journal of molecular sciences
2026

Zinc bioavailability in alcohol-associated liver disease: Mechanisms and therapeutic implications.

Molecular aspects of medicine
2025

Zinc transporter dynamics in the pathogenesis of 2,4,6-trinitrobenzenesulfonic acid/ethanol-induced ileitis in mice.

Journal of physiology and pharmacology : an official journal of the Polish Physiological Society
2025

Genetic determinants of zinc homeostasis and its role in cardiometabolic diseases.

PLoS genetics
2025

Perturbations of Zinc Homeostasis and Onset of Neuropsychiatric Disorders.

International journal of molecular sciences
2025

SLC30A3 as a Zinc Transporter-Related Biomarker and Potential Therapeutic Target in Alzheimer's Disease.

Genes
2026

Selective knockout of murine glutamic acid-rich protein 2 significantly alters dark continuous noise in rod photoreceptors.

The Journal of physiology
2026

Generation of hiPSC-Derived Brain Microvascular Endothelial Cells Using Directed Differentiation and Transcriptional Reprogramming.

Arteriosclerosis, thrombosis, and vascular biology
2025

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

bioRxiv : the preprint server for biology
2026

Mitochondrial protein TOMM7 alleviates diabetic kidney disease by regulating mitophagy via intracellular redistribution of phospholipase PLA2G6.

Kidney international
2025

Synergistic effects of Zn2+/Ca2+ crosslinking on alginate-chitosan semi-interpenetrating networks: mechanical and pH responsive properties.

Pharmaceutical development and technology
2025

Misclassified latent autoimmune diabetes in adults within Māori and Pacific adults with type 2 diabetes in Aotearoa New Zealand.

The New Zealand medical journal
2026

Differential ion selectivity and disease-associated dysfunction of TRPML channels revealed by patient and engineered mutants.

The Journal of biological chemistry
2025

Effects of rs3802177 G/A polymorphism on SLC30A8 mRNA and hsa-miR-183-5p in Malay women with gestational diabetes mellitus.

Scientific reports
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

The SWI/SNF chromatin-remodeling subunit DPF2 regulates macrophage inflammation in intestinal injury via the CACNA1D-mediated MAPK pathway.

Proceedings of the National Academy of Sciences of the United States of America
2025

ZNF529 up-regulation speeds up progression and induces tyrosine kinase inhibitor resistance in hepatocellular carcinoma.

Journal of gastrointestinal oncology
2026

Protein-Mediated Virulence in Mycobacterium tuberculosis.

Advances in experimental medicine and biology
2026

Loss of Aquaporin-1 in Tumor Cells Fosters Intrahepatic Cholangiocarcinoma Progression.

The American journal of pathology
2025

ZNF334 truncation mutation drives cold-induced autoinflammation.

EMBO molecular medicine
2025

Mass Spectrometry-Based Comparative Analysis of N-Glycosylation Alterations in Three Human Body Fluids in Parkinson's Disease.

ACS chemical neuroscience
2025

Atypical presentation of Acrodermatitis enteropathica in a child: later onset with life-threatening severe extensive dermatitis and septic shock.

BMC pediatrics
2025

Zinc and Adipose Organ Dysfunction: Molecular Insights into Obesity and Metabolic Disorders.

Current nutrition reports
2025

PDZK1, a direct target of Gli2, promotes FGFR3 trafficking and cell proliferation in colorectal cancer.

Cellular signalling
2025

PARIS/ZNF746 DNA-binding domain deficiency promotes adipose tissue hyperplasia and hepatic lipid accumulation.

Scientific reports
2025

Association of acyl-CoA oxidase-like gene polymorphisms with risk, onset age, and beta-cell function of type 1 diabetes in Chinese.

Frontiers in endocrinology
2025

Genetic insights into bovine spastic syndrome (Crampy) in Holstein dairy cattle.

Journal of dairy science
2026

Zinc transporter proteins in the retina as potential biomarkers for staging early Alzheimer's disease: Comparative analysis in human and mouse models.

Neurobiology of aging
2025

Targeted genome editing of ZKSCAN3 mitigates the neurotoxicity caused by mutant HTT (huntingtin) in a Huntington disease animal model and three-dimensional cell culture of Huntington disease.

Autophagy
2026

Zinc Ameliorates Inflammation and Sperm Parameters in Rats With Experimental Autoimmune Prostatitis.

The Prostate
2025

Nutrigenetics and metabolic syndrome: evidence from a systematic review of the literature.

Genes & nutrition
2025

Molecular mechanisms of SLC30A10-mediated manganese transport.

Nature communications
2025

Predictors of Transitions From GADA as the Initial Autoantibody to Multiple Autoantibodies of Type 1 Diabetes in Children at Risk by a Dynamic Prediction Model.

Pediatric diabetes
2025

SLC39A5 promotes the malignant progression of gastric cancer by activating BATF phosphorylation.

The Journal of biological chemistry
2025

UK best practice recommendations for children and young people <18 years with pre-stage 3 type 1 diabetes, on behalf of the British Society for Paediatric Endocrinology and Diabetes (BSPED).

Diabetic medicine : a journal of the British Diabetic Association
2026

Zinc Transporters in Diseases, Including Diabetes and Related Conditions.

Physiology (Bethesda, Md.)
2025

Unraveling the Diversity of RANBP2: Protein Isoforms and Implications for Cellular Function and Human Disease.

Journal of molecular biology
2025

Zinc protoporphyrin-triggered ferroptosis plays a critical role in renal proximal tubular cell damage and chronic kidney disease.

Life sciences
2026

Endothelial GATAD1 Exacerbates Blood-brain Barrier Dysfunction in Ischemic Stroke through Caveolae-mediated Transcytosis.

Neuroscience bulletin
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

SLC39A8-mediated zinc dyshomeostasis potentiates kidney disease.

Proceedings of the National Academy of Sciences of the United States of America
2025

Quantitative Control of Zn2+ Photorelease: A Step toward Decoding Mechanisms of Subsecond Metal Signaling in the Brain.

Analytical chemistry
2025

ZnO Nanoparticles Interacts With Unique Serum Proteins and Induce Stress Signaling During Hepatoxicity - A Proteomics and Molecular Pathways Study.

Journal of biochemical and molecular toxicology
2025

Ciprofloxacin enhances RSL3-induced ferroptosis by promoting mitochondrial Zn2+ accumulation via the STING1-CAV2 pathway.

The Journal of biological chemistry
2025

Self-Doped Cu2+xZn1-xSnSe4 Nanosheets for Enhanced Thermoelectric Catalytic-Ferroptotic Therapy.

Advanced materials (Deerfield Beach, Fla.)
2025

A TRPM2-Driven Signalling Cycle Orchestrates Abnormal Inter-Organelle Crosstalk in Cardiovascular and Metabolic Diseases.

Biomolecules
2025

Metallothionein and Other Factors Influencing Cadmium-Induced Kidney Dysfunction: Review and Commentary.

Biomolecules
2025

Effect of dietary zinc supplementation on the gastrointestinal microbiome and host gene expression in the Shank3B-/- mouse model of autism spectrum disorder.

Frontiers in microbiology
2025

Type 2 diabetes mellitus and zinc dysregulation: From basic and epidemiological evidence to interventions.

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

Diabetes, Celiac, and Thyroid-Related Autoantibodies in HLA Genotyped Ethiopian Children and Adolescents With Type 1 Diabetes: A Cross-Sectional Study.

Pediatric diabetes
2025

Unravelling the complex interplay between zinc, iron and their synergistic effect on LCPUFA metabolism in preeclampsia.

Prostaglandins, leukotrienes, and essential fatty acids
2025

Engineering biology and chemical approaches to the construction of vitamin B12 analogues and antivitamins B12 as probes and therapeutic agents.

Advances in microbial physiology
2025

Analysis of novel zinc-binding proteins in the cell wall of Corynebacterium diphtheriae.

Journal of bacteriology
2025

Pathogenic ZNF319 variant disrupts nuclear localization and transcriptional regulation to cause a novel form of autosomal recessive leukodystrophy.

Journal of human genetics
2025

SOX4-ZIP14-zinc metabolism mediates oncogenesis and suppresses T cell immunity in nasopharyngeal carcinoma.

Cell reports. Medicine
2026

Role of CNNM4 in the progression of cholangiocarcinoma: implications for ferroptosis and therapeutic potential.

Gut
2025

FGA139, a novel cysteine protease inhibitor, exhibits anti-inflammatory and neuroprotective activity and reveals microglial modulation via multi-omics profiling.

Life sciences
2025

Zinc induces neuronal autophagy via HMGB1 nuclear translocation in acute cerebral ischemia.

Neuropharmacology
2025

Rationale Design of a Zn(II)-Coordinated, Cell Penetrating, and Functionalized Tetrapeptide Self-Assembly for Delivery of Chemotherapeutic Drugs to Folic Acid Receptor-Expressing Cancer Cells.

ACS applied bio materials
2025

SLC39A13 Regulates Heart Function via Mitochondrial Iron Homeostasis Maintenance.

Circulation research
2025

A structural perspective of transmembrane transport of zinc by ZnT and ZIP transporters.

Journal of structural biology
2025

Functional Cargo in Membrane Vesicles From a Citrus Pathogen.

Environmental microbiology reports
2025

Oral Engineered Extracellular Vesicles Based on Ion Exchange Strategy for Multipronged Management of Wilson's Disease Complicated with Reproductive Dysfunction Therapy.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2025

ZnTs: Key Regulators of Zn2+ Homeostasis in Diseases.

Cell biology international
2025

SerpinA3N inhibits mitochondrial complex I activity to prevent neuron ferroptosis following cerebral ischemic stroke.

Experimental neurology
2025

The Role of Lysine Tyrosylquinone Containing Oxidases in Progression of Solid Tumors.

Frontiers in bioscience (Landmark edition)
2025

ZIP10 as a potential therapeutic target in acute myeloid leukaemia.

British journal of haematology
2025

Rapamycin Alleviates Heart Failure Caused by Mitochondrial Dysfunction and SERCA Hypoactivity in Syntaxin 12/13 Deficient Models.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2025

Lysosomal zinc nanomodulation blocks macrophage pyroptosis for counteracting atherosclerosis progression.

Science advances
2025

Inhibition of Hedgehog signaling does not mitigate polycystic kidney disease severity in a Pkd1 mutant mouse model.

Journal of cell science
2025

Zinc sulfate improves insulin resistance, oxidative stress and apoptosis in liver tissues of PCOS rats through the NF-κB pathway.

Frontiers in endocrinology
2025

Polygenic score from MODY genes is associated with type 1 diabetes and disease characteristics.

Acta diabetologica
2025

Salmonella exploits host- and bacterial-derived β-alanine for replication inside host macrophages.

eLife
2025

Effect of Alpha-1 Antitrypsin Deficiency on Zinc Homeostasis Gene Regulation and Interaction with Endoplasmic Reticulum Stress Response-Associated Genes.

Nutrients
2025

Pitfalls in the Diagnosis of Wilson Disease.

Current neurology and neuroscience reports
2025

Etiologic Determinants and Characteristics of Diabetes in Haitian Youth (EDDHY Study).

Pediatric diabetes
2025

Trace Element Deficiency in Axial Spondyloarthritis and Psoriatic Arthritis in Relation to Markers of Inflammation and Remission.

International journal of molecular sciences
2025

Alteration of Hair Melanin in Patients With Mowat-Wilson Syndrome: The Role of the ZEB2 Gene in Regulating Melanogenesis Through SLC45A2.

Pigment cell &amp; melanoma research
2025

Downregulation of the Zinc Transporter ZIP13 (Slc39a13) Leads to Ferroptosis by Inhibiting Mitochondrial Iron-Sulfur Cluster Biosynthesis and Induces Ischemia/Reperfusion Injury in Mouse Hearts.

Antioxidants &amp; redox signaling
2025

Establishing the performance and acceptability of dried blood spot sampling to screen for islet-specific autoantibodies.

Diabetic medicine : a journal of the British Diabetic Association
2025

ZIP8 modulates ferroptosis to drive esophageal carcinoma progression.

Cell death &amp; disease
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

A zinc transporter drives glioblastoma progression via extracellular vesicles-reprogrammed microglial plasticity.

Proceedings of the National Academy of Sciences of the United States of America
2025

Nutritional Value and Health Implications of Meat from Monogastric Animals Exposed to Heat Stress.

Nutrients
2025

Association of C1QTNF6 gene polymorphism with risk and clinical features of type 1 diabetes in Chinese: implications for ZnT8A and beta-cell function.

Frontiers in immunology
2025

Proteomic analysis of plasma proteins during fentanyl withdrawal in ovariectomized female rats with and without estradiol.

Journal of neuroendocrinology
2025

Modulation of NMDA receptor signaling and zinc chelation prevent seizure-like events in a zebrafish model of SLC13A5 epilepsy.

PLoS biology
2025

A Compound Screen Based on Isogenic hESC-Derived β Cell Reveals an Inhibitor Targeting ZnT8-Mediated Zinc Transportation to Protect Pancreatic β Cell from Stress-Induced Cell Death.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2025

Correlative analysis of metallomic gene expression and metal ion content within the mouse hippocampus.

Metallomics : integrated biometal science
2025

The TRPV3 channel is a mediator of zinc influx and homeostasis in murine oocytes.

Proceedings of the National Academy of Sciences of the United States of America
2025

Two-pronged approach: Therapeutic effect of biological scaffold combined with immune intervention and β-cell replacement on type 1 diabetic mice.

Diabetes, obesity &amp; metabolism
2025

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

Journal of bacteriology
2025

Modulation of ZnT-1 by Let7a unveils a therapeutic potential in amyotrophic lateral sclerosis.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
2025

Protocatechuic Acid Reduces Liver Fatty Acid Uptake in HFD-Fed Mice Associated With the Inhibition of DHHC5-Mediated CD36 Palmitoylation.

Molecular nutrition &amp; food research
2025

ZnT6-mediated Zn2+ redistribution: impact on mitochondrial fission and autophagy in H9c2 cells.

Molecular and cellular biochemistry
2025

Zinc ion dyshomeostasis in autism spectrum disorder.

Nutrition research reviews
2025

Micronutrient Biofortification in Wheat: QTLs, Candidate Genes and Molecular Mechanism.

International journal of molecular sciences
2025

Vitamin D deficiency is common among Polish children with newly diagnosed type 1 diabetes mellitus.

Endokrynologia Polska
2025

Impact of zinc on immunometabolism and its putative role on respiratory diseases.

Immunometabolism (Cobham, Surrey)
2025

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

Microbiology spectrum
2025

N,N'-bis(2-mercaptoethyl)isophthalamide (NBMI) as a novel chelator for Wilson's disease.

Free radical biology &amp; medicine
2025

Zinc Attenuates Prostate Hyperplasia and Inflammatory Injury in Obese Rats by Regulating Zinc Homeostasis and Inhibiting the JAK1/STAT3 Pathway.

The Prostate
2025

L-theanine ameliorates traumatic-brain-injury-induced hippocampal neuronal death in rats.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2025

ANP Increases Zn2⁺ Accumulation During Reperfusion in Ex Vivo and In Vivo Hearts.

Current medical science
2025

Urinary trace elements and thyroid nodule formation in a longitudinal cohort of older women: Findings from KoGES.

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

ZIP8 Regulates Inflammation and Macrophage Polarisation in Intervertebral Disc Degeneration via the Wnt/β-Catenin Pathway.

Journal of cellular and molecular medicine
2025

Islet autoantibodies in Thai individuals diagnosed with type 1 diabetes before 30 years of age: a large multicentre nationwide study.

Diabetologia
2025

The TRPM7 chanzyme in smooth muscle cells drives abdominal aortic aneurysm in mice.

Nature cardiovascular research
2025

The sterol-regulating human ARV1 binds cholesterol and phospholipids through its conserved ARV1 homology domain.

The Journal of biological chemistry
2025

Correlation of Serum Zinc Levels with Hepatic Encephalopathy Severity in Patients with Decompensated Liver Cirrhosis: A Prospective Observational Study from Egypt.

Biological trace element research
2025

Minerals and Human Health: From Deficiency to Toxicity.

Nutrients
2025

Tumor-derived miR-203a-3p potentiates muscle wasting by inducing muscle ferroptosis in pancreatic cancer.

Cancer letters
2025

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

Life science alliance
2025

Oxylipin dynamics in dairy cows during clinical ketosis and after treatment with niacin and flunixin meglumine.

JDS communications
2025

SLC39A10 is a key zinc transporter in T cells and its loss mitigates autoimmune disease.

Science China. Life sciences
2024

The impact of solute carrier proteins on disrupting substance regulation in metabolic disorders: insights and clinical applications.

Frontiers in pharmacology
2025

Modelling host-pathogen interactions: Galleria mellonella as a platform to study Pseudomonas aeruginosa response to host-imposed zinc starvation.

Microbiology (Reading, England)
2025

Synthesis and functional screening of novel inhibitors targeting the HDAC6 zinc finger ubiquitin-binding domain.

European journal of medicinal chemistry
2025

Zinc Transporter 9 (ZnT9) Improves Obesity-Induced Asthenospermia by Attenuating Endoplasmic Reticulum Stress (ERS).

Biological trace element research
2025

Multifunctional Nanomedicine for Targeted Atherosclerosis Therapy: Activating Plaque Clearance Cascade and Suppressing Inflammation.

ACS nano
2025

Mutations in histones dysregulate copper homeostasis leading to defect in Sec61-dependent protein translocation mechanism in Saccharomyces cerevisiae.

The Journal of biological chemistry
2025

Deletion of metal transporter Zip14 reduces major histocompatibility complex II expression in murine small intestinal epithelial cells.

Proceedings of the National Academy of Sciences of the United States of America
2025

EDENT1FI Master Protocol for screening of presymptomatic early-stage type 1 diabetes in children and adolescents.

BMJ open
2024

Mammalian SLC39A13 promotes ER/Golgi iron transport and iron homeostasis in multiple compartments.

Nature communications
2025

Deciphering the mineral code of urinary stones: A first look at zinc isotopes.

Environmental pollution (Barking, Essex : 1987)
2024

Trace element zinc metabolism and its relation to tumors.

Frontiers in endocrinology
2024

Zinc homeostasis regulates caspase activity and inflammasome activation.

PLoS pathogens
2024

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

Nutrients
2024

Genetic inactivation of zinc transporter SLC39A5 improves liver function and hyperglycemia in obesogenic settings.

eLife
2024

Research progress on the molecular structure, function, and application in tumor therapy of zinc transporter ZIP4.

International journal of biological sciences
2025

Exosomal circ_001860 Promotes Colorectal Cancer Progression through the miR-582-5p/ZEB1 Axis.

Critical reviews in eukaryotic gene expression
2025

Proteomics analysis in rats reveals convergent mechanisms between major depressive disorder and dietary zinc deficiency.

Pharmacological reports : PR
2024

A Zinc Uptake Transporter ZIP1-II Is Involved in Zinc Accumulation in the Hepatopancreas of Pacific Oyster Crassostrea gigas.

Marine biotechnology (New York, N.Y.)
2024

Loss of the zinc receptor ZnR/GPR39 in mice enhances anxiety-related behavior and motor deficits, and modulates KCC2 expression in the amygdala.

Behavioral and brain functions : BBF
2026

Fluorescence chemosensing and bioimaging of metal ions using schiff base probes working through photo-induced electron transfer (PET).

Critical reviews in analytical chemistry
2024

The pathophysiological functions and therapeutic potential of GPR39: Focus on agonists and antagonists.

International immunopharmacology
2024

Molecular mechanisms of MAZ targeting up-regulation of NDUFS3 expression to promote malignant progression in melanoma.

Communications biology
2024

ZIP7 contributes to the pathogenesis of diabetic cardiomyopathy by suppressing mitophagy in mouse hearts.

Cardiovascular diabetology
2025

LC3B-regulated autophagy mitigates zinc oxide nanoparticle-induced epithelial cell dysfunction and acute lung injury.

Toxicological sciences : an official journal of the Society of Toxicology
2025

Zinc finger transcription factors BnaSTOP2s regulate sulfur metabolism and confer Sclerotinia sclerotiorum resistance in Brassica napus.

Journal of integrative plant biology
2025

Zinc Deficiency Leads to Reproductive Impairment in Male Mice Through Imbalance of Zinc Homeostasis and Inflammatory Response.

Biological trace element research
2025

Cryo-EM structures of the zinc transporters ZnT3 and ZnT4 provide insights into their transport mechanisms.

FEBS letters
2024

SLC30A2-Mediated Zinc Metabolism Modulates Gastric Cancer Progression via the Wnt/β-Catenin Signaling Pathway.

Frontiers in bioscience (Landmark edition)
2025

The Impact of Selenium Deficiency and T-2 Toxin on Zip6 Expression in Kashin-Beck Disease.

Biological trace element research
2024

Zinc-modulated bidirectional copper transfer across the blood-brain barrier in a porcine brain capillary endothelial cell culture model system.

Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS)
2024

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

International journal of molecular sciences
2024

Carvedilol through ß1-Adrenoceptor blockade ameliorates glomerulonephritis via inhibition of oxidative stress, apoptosis, autophagy, ferroptosis, endoplasmic reticulum stress and inflammation.

Biochemical pharmacology
2025

Citrus yellow vein clearing virus infection triggers phloem remobilization of iron- and zinc-nicotianamine in citrus.

Plant physiology
2024

Dietary zinc status is associated with ZnT3 (SLC30A3), IL-6 gene expressions and spinal cord tissue damage in spinal cord tissue in a cuprizone-induced rat Multiple Sclerosis model.

Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS)
2024

Xenotransplanted human organoids identify transepithelial zinc transport as a key mediator of intestinal adaptation.

Nature communications
2024

[Progress in drug therapy of Wilson's disease].

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology
2024

Myricanol represses renal fibrosis by activating TFAM and ZNRF1 to inhibit tubular epithelial cells ferroptosis.

European journal of pharmacology
2024

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

Digestive diseases and sciences
2024

Hypoxia-responsive zinc finger E-box-binding homeobox 2 (ZEB2) regulates a network of calcium-handling genes in the injured heart.

Cardiovascular research
2024

The ZDHHC13/ZDHHC17 subfamily: From biological functions to therapeutic targets of diseases.

Pharmacological research
2023

Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization.

Wellcome open research

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Alteração do metabolismo do zinco.

É de uma associação que acompanha esta doença? Fale com a gente →

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Alteração do metabolismo do zinco

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

Tire suas dúvidas

Perguntas, dicas e experiências compartilhadas aqui na página

Participe da discussão

Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.

Fazer login

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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. In Vitro Studies of the Effects of Antithrombotic Zn-Dipicolylamine-Harboring Liposomes (DPALs) on Serum Albumin and Human Umbilical Vein Endothelial Cells.
    International journal of molecular sciences· 2026· PMID 41828522mais citado
  2. Molecular and immunological heterogeneity of eosinophilic esophagitis: Insights and subtyping.
    PloS one· 2026· PMID 41818315mais citado
  3. Bacterial reporter-paired scRNA sequencing reveals cross talk between zinc starvation and zinc toxicity in macrophage antibacterial defense.
    Proceedings of the National Academy of Sciences of the United States of America· 2026· PMID 41802048mais citado
  4. Nutrigenomic profiling identifies ZIP10 (SLC39A10) as a regulator of erythroid zinc homeostasis with genetic associations to anemia risk.
    Proceedings of the National Academy of Sciences of the United States of America· 2026· PMID 41701827mais citado
  5. Type 1 Diabetes: A Review.
    JAMA· 2026· PMID 41697686mais citado
  6. ZFT is the major iron and zinc transporter in Toxoplasma gondii.
    Elife· 2026· PMID 41642226recente
  7. Cryo-EM Brings the Mechanisms of Activation, Inactivation, and Inhibition of Ryanodine Receptors into Focus.
    Adv Exp Med Biol· 2026· PMID 41606279recente
  8. A homology-based 3D model and structure-function studies reveal key elements for divalent metal ion transporter ZIP8 (SLC39A8) function.
    J Biol Chem· 2025· PMID 41232668recente
  9. PDZK1, a direct target of Gli2, promotes FGFR3 trafficking and cell proliferation in colorectal cancer.
    Cell Signal· 2025· PMID 41106751recente
  10. Molecular mechanisms of SLC30A10-mediated manganese transport.
    Nat Commun· 2025· PMID 41022720recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:309845(Orphanet)
  2. MONDO:0017764(MONDO)
  3. GARD:21356(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q55787339(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.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Alteração do metabolismo do zinco
Compêndio · Raras BR

Alteração do metabolismo do zinco

ORPHA:309845 · MONDO:0017764
CID-10
E83.2 · Distúrbios do metabolismo do zinco
MedGen
UMLS
C0268085
Wikidata
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades