A riboflavina (lactoflavina ou vitamina B2; designada no passado também por vitamina G; nome sistemático 7,8 - dimetil-10-(D-1'-ribitil)-isoaloxazina) é um composto orgânico (flavina) da classe das vitaminas. No organismo humano, favorece o metabolismo das gorduras, açúcares e proteínas e é importante para a saúde dos olhos, pele, boca e cabelos.
Introdução
O que você precisa saber de cara
Doença rara que afeta o metabolismo e transporte do folato, causando retardo do crescimento, fraqueza muscular, imunodeficiência e glossite. Pode manifestar-se com hiperreflexia, infecções recorrentes e anormalidades motoras.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 63 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 168 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
7 genes identificados com associação a esta condição.
Contributes to tetrahydrofolate metabolism. Helps regulate carbon flow through the folate-dependent one-carbon metabolic network that supplies carbon for the biosynthesis of purines, thymidine and amino acids. Catalyzes the irreversible conversion of 5-formyltetrahydrofolate (5-FTHF) to yield 5,10-methenyltetrahydrofolate
Cytoplasm
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
An autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy, and characterized by microcephaly, short stature, severe global developmental delay, progressive spasticity, and epilepsy. Brain imaging shows delayed myelination, hypomyelination, enlarged ventricles, and cerebellar atrophy.
Folate-dependent enzyme, that displays both transferase and deaminase activity. Serves to channel one-carbon units from formiminoglutamate to the folate pool Binds and promotes bundling of vimentin filaments originating from the Golgi
Cytoplasm, cytosolGolgi apparatusCytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole
Glutamate formiminotransferase deficiency
Autosomal recessive disorder. Features of a severe phenotype, include elevated levels of formiminoglutamate (FIGLU) in the urine in response to histidine administration, megaloblastic anemia, and intellectual disability. Features of a mild phenotype include high urinary excretion of FIGLU in the absence of histidine administration, mild developmental delay, and no hematological abnormalities.
Catalyzes the reduction of 7,8-dihydrofolate (DHF) to 5,6,7,8-tetrahydrofolate in a NADPH-dependent manner (PubMed:12096917, PubMed:15039552, PubMed:17569517, PubMed:19196009, PubMed:19478082, PubMed:21876184, PubMed:9719595). Key enzyme in folate metabolism. Contributes to the nuclear and mitochondrial de novo thymidylate biosynthesis pathway (PubMed:21876188, PubMed:22235121). Catalyzes an essential reaction for de novo glycine and purine synthesis, and for DNA precursor synthesis. Binds its o
MitochondrionCytoplasmNucleus
Megaloblastic anemia due to dihydrofolate reductase deficiency
An inborn error of metabolism, characterized by megaloblastic anemia and/or pancytopenia, severe cerebral folate deficiency, and cerebral tetrahydrobiopterin deficiency. Clinical features include variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy, to childhood absence epilepsy with learning difficulties, to lack of symptoms.
Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate and folate analogs into the interior of cells (PubMed:19074442, PubMed:23851396, PubMed:23934049, PubMed:2527252, PubMed:8033114, PubMed:8567728). Has high affinity for folate and folic acid analogs at neutral pH (PubMed:23851396, PubMed:23934049, PubMed:2527252, PubMed:8033114, PubMed:8567728). Exposure to slightly acidic pH after receptor endocytosis triggers a conformation change that strongly
Cell membraneApical cell membraneBasolateral cell membraneSecretedCytoplasmic vesicleCytoplasmic vesicle, clathrin-coated vesicleEndosome
Neurodegeneration due to cerebral folate transport deficiency
An autosomal recessive neurodegenerative disorder resulting from brain-specific folate deficiency early in life. Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy and leukodystrophy.
Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine (PubMed:29891918). Represents a key regulatory connection between the folate and methionine cycles (Probable)
Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity
An autosomal recessive inborn error of folate metabolism. Clinical severity is variable, ranging from severe neurologic features to absence of symptoms. Clinical features include homocysteinuria, homocysteinemia, developmental delay, severe intellectual disability, perinatal death, psychiatric disturbances, and later-onset neurodegenerative disorders.
Proton-coupled folate symporter that mediates folate absorption using an H(+) gradient as a driving force (PubMed:17129779, PubMed:17446347, PubMed:17475902, PubMed:19389703, PubMed:19762432, PubMed:25504888, PubMed:29344585, PubMed:30858177, PubMed:31494288, PubMed:31792273, PubMed:32893190, PubMed:34619546). Involved in the intestinal absorption of folates at the brush-border membrane of the proximal jejunum, and the transport from blood to cerebrospinal fluid across the choroid plexus (PubMed
Cell membraneApical cell membraneBasolateral cell membraneEndosome membraneCytoplasm
Hereditary folate malabsorption
Rare autosomal recessive disorder characterized by impaired intestinal folate absorption with folate deficiency resulting in anemia, hypoimmunoglobulinemia with recurrent infections, and recurrent or chronic diarrhea. In many patients, neurological abnormalities such as seizures or intellectual disability become apparent during early childhood, attributed to impaired transport of folates into the central nervous system. When diagnosed early, the disorder can be treated by administration of folate. If untreated, it can be fatal and, if treatment is delayed, the neurological defects can become permanent.
Antiporter that mediates the import of reduced folates or a subset of cyclic dinucleotides, driven by the export of organic anions (PubMed:10787414, PubMed:15337749, PubMed:16115875, PubMed:22554803, PubMed:31126740, PubMed:31511694, PubMed:32276275, PubMed:36071163, PubMed:36265513, PubMed:36575193, PubMed:7826387, PubMed:9041240). Acts as an importer of immunoreactive cyclic dinucleotides, such as cyclic GMP-AMP (2'-3'-cGAMP), an immune messenger produced in response to DNA virus in the cytoso
Cell membraneApical cell membraneBasolateral cell membrane
Megaloblastic anemia, folate-responsive
An autosomal recessive metabolic disorder characterized by megaloblastic anemia resulting from decreased folate transport into erythrocytes. Disease manifestations include hemolytic anemia, hyperhomocysteinemia, and low vitamin B12. Serum folate levels are normal, but erythrocyte folate levels are decreased. Treatment with oral folate corrects the anemia and normalizes homocysteine.
Variantes genéticas (ClinVar)
289 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
9 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 — Doença do metabolismo do folato
Centros de Referência SUS
21 centros habilitados pelo SUS para Doença do metabolismo do folato
Centros para Doença do metabolismo do folato
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
SLC46A1 deficiency-mediated folate restriction suppresses colorectal cancer progression through epigenetic-transcriptional reprogramming.
The association between folate metabolism abnormalities and the development of colorectal cancer (CRC) remains controversial. Here, we report that the folate exerts a tumor-suppressive role in CRC; however, the manifestation of this effect is restricted by the expression level of folate transporter SLC46A1 in CRC cells. Multi-cohort profiling revealed significant downregulation of SLC46A1 in CRC tissues compared to adjacent normal tissues, where low expression independently predicted poor overall survival. Functional studies demonstrated that SLC46A1-mediated folate uptake suppressed tumor proliferation, migration, and invasion both in vitro and in vivo. Mechanistically, SLC46A1 deficiency restricted intracellular folate availability and impaired cellular methylation potential, as evidenced by a reduced SAM/SAH ratio, leading to DNA hypomethylation at specific sites such as the FOS proto-oncogene promoter. This epigenetic reprogramming triggers transcriptional activation of key oncogenic effectors CCND1, BCL2, and PLAU involved in CRC progression. Clinically, we found a significant inverse correlation between SLC46A1 expression and folate levels in tumor interstitial fluids of CRC, suggesting impaired folate uptake in low SLC46A1 tumors. Multi-color immunofluorescence across two cohorts further demonstrated conserved inverse associations between SLC46A1 and FOS expression in primary tumors and metastatic lesions. This study elucidates the molecular mechanism by which folate inhibits CRC progression through the "SLC46A1-epigenetic-transcriptional regulation" axis, providing mechanistic insights into folate deficiency-driven CRC progression and biomarkers for precision CRC intervention. This study elucidates the tumor-suppressive role of the folate transporter SLC46A1 in CRC. In normal cells, SLC46A1 facilitates folate uptake, supporting one-carbon metabolism and maintaining genomic stability. In CRC, however, SLC46A1 downregulation induces intracellular folate deficiency, triggering locus-specific DNA hypomethylation at the FOS promoter, which activates oncogenic transcription of key downstream effectors (CCND1, BCL2, PLAU), driving tumor progression. The graphical abstract illustrates the differential impact of SLC46A1 on folate metabolism and gene expression in normal versus tumor cells, highlighting its potential as a therapeutic target in CRC.
A Nonketotic Hyperglycinemia Mouse Shows Wide-Ranging Biochemical Consequences of Elevated Glycine, Reduced Folate One-Carbon Charging, and Serine Deficiency.
Nonketotic hyperglycinemia is a severe neonatal epileptic encephalopathy caused by deficient glycine cleavage enzyme activity, for which currently no effective treatment exists. Incomplete understanding of brain biochemistry represents a major knowledge gap to develop new treatments. We examined the biochemistry in blood, liver, cortex, hippocampus, and cerebellum of a mouse model homozygous for the Gldc variant p.Ala394Val. Glycine was increased in all compartments and caused increased brain neurotoxic metabolites guanidinoacetate and methylglyoxal, and also N-acetylglycine and cystathionine. The glycine extruding transporter Slc6a20 was increased. There was reduced one-carbon folate charging with secondarily reduced methionine in the cortex, and reduced alternative one-carbon donors L-serine and formate. Serine deficiency was associated with reduced amounts of sphingosine, sphingomyelin, and ceramide species important for myelination, but not phosphatidylserines. There was a region-specific deficiency of D-serine in the cortex and hippocampus. This difference, also present in humans, was strain- and age-related, most evident in young J129X1/SvJ mice, reflecting symptomatology. There was no evidence of oxidative stress or a bioenergetic defect. The biochemistry of the nonketotic hyperglycinemia mouse model can be traced to three components: increased glycine, reduced folate one-carbon charging, and decreased L- and D-serine. These changes will need to be addressed in new therapeutic approaches.
Tubule-Derived IFN-α Promotes GSDMD-Mediated Macrophage Pyroptosis to Drive Renal Inflammation and Fibrosis Through JAK2/STAT2 Activation.
Macrophages exhibit high plasticity in response to tubular epithelial cell (TEC) injury. Gasdermin D (GSDMD)-mediated pyroptosis amplifies the inflammatory and fibrogenic cascade, yet its role in chronic kidney disease (CKD) remains elusive. Herein, GSDMD is upregulated in kidney macrophages following unilateral renal ischemia-reperfusion injury (UIRI) or folic acid-induced injury, paralleling elevated pyroptosis rates. Clinically, the active fragment GSDMD-N localizes primarily to CD68⁺ macrophages, and its renal level positively correlates with fibrosis severity across diverse CKD etiologies, reinforcing its pathogenic relevance. Macrophage-specific deletion of Gsdmd ameliorates pyroptosis, inflammation, and renal fibrosis in both murine models, without affecting acute tubular damage in bilateral IRI. Mechanistically, injured TECs initiate this cascade through secreted IFN-α, which activates the IFNAR1/JAK2/STAT2 axis in macrophages. STAT2 then forms a complex with IRF9, directly binding to the Gsdmd promoter to transcriptionally upregulate GSDMD expression. Genetic ablation of Jak2, Stat2, or Ifnar1 reduces GSDMD and GSDMD-N levels and inhibits IL-1β/IL-18 secretion. Notably, administration of an IFN-α neutralizing antibody attenuates UIRI-induced pyroptotic macrophage, inflammation, and renal fibrosis. Collectively, the findings uncover a STAT2/IRF9-dependent paracrine IFN-α feedback loop that orchestrates GSDMD-mediated pyroptosis, linking injured TECs to macrophage-driven renal inflammation and fibrosis. Targeting this axis represents a promising strategy to halt CKD progression.
BiTE-secreting T cells rationally combine with PD-1 blockade and vaccine boosting to reshape antitumor immunity in ovarian cancer.
Despite some clinical success, ovarian cancer (OC) patients rarely achieve durable benefit from current immunotherapies, suggesting a need for strategies that improve OC immune recognition. We previously reported that engineered T cells secreting folate receptor alpha (FRα)-targeted bispecific T cell engagers (FR-B T cells) elicit robust antitumor responses in OC, in part by engaging endogenous T cells. Here, we use clinical OC specimens and preclinical OC to evaluate FR-B T cells combined with PD-1 blockade. Assessing the tumor microenvironment during acute and prolonged FR-B T cell + anti-PD-1 responses revealed broad immune cell engagement/reorganization. Early CD8+ T cell-driven responses and myeloid cell influx were followed by accumulation of CXCL13-producing macrophages, activated B cells, and effector memory CD4+ T cells with durable response, hallmarks that were diminished with progressive disease. Resistant OC (characterized by FRα loss and metabolic reprogramming) emerged at disease relapse, suggesting a need to target additional vulnerabilities to extend responses. As FR-B T cells promoted epitope spreading beyond FRα, we employed a booster vaccine to enhance antitumor immunity, improving OC control. Our findings point to rationally combining FR-B T cells with PD-1 blockade in OC and an opportunity to apply personalized cancer vaccines to limit OC relapse.
Folate receptor 1 activation suppresses high glucose-induced amyloidogenesis in neurons via STAT3/Nrf2 pathway-dependent mitigation of mitochondrial oxidative stress.
Diabetes is a major risk factor for diabetic encephalopathy (DE), which is closely associated with sporadic Alzheimer's disease. Folic acid (FA) receptor signaling can suppress generation of neuropathogenic amyloid-beta (Aβ) induced by high extracellular glucose, suggesting that enhanced activation of this pathway could be a therapeutic strategy against DE-associated dementia, but the precise molecular signaling mechanisms are unclear. We report that high glucose levels increased the expression of amyloid precursor protein (APP) and β-secretase (BACE1) in cultured neurons and concomitantly induced amyloidogenesis, while FA treatment suppressed high glucose-stimulated expression of APP and BACE1, Aβ release, and accumulation of mitochondrial reactive oxygen species. Expression of nuclear factor erythroid 2-related factor 2 (Nrf2) was minimal under high glucose conditions, but was significantly upregulated together with downstream antioxidant enzymes following FA co-treatment. High glucose stimulation also increased folate receptor 1 (FOLR1) mRNA expression, suggesting a compensatory protective response. While treatment with 5-methyltetrahydrofolate (5-MTHF), the activated form of folate, did not significantly alter high glucose-induced upregulation of APP and BACE1, knockdown of FOLR1 mRNA reduced high glucose-stimulated Nrf2 expression and further augmented APP and BACE1 expression under high glucose conditions. Treatment with the STAT3 inhibitor 5'15-DPP also abolished high glucose-stimulated Nrf2 expression and increased APP and BACE1 expression levels. These findings indicate that FA/FOLR1 activation suppresses high glucose-induced amyloidogenesis by mitigating mitochondrial oxidative stress via STAT3/Nrf2 pathway signaling. In conclusion, present study suggests that the FA/FOLR1/STAT3/Nrf2 pathway is an effective therapeutic target for DE.
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Folate receptor 1 activation suppresses high glucose-induced amyloidogenesis in neurons via STAT3/Nrf2 pathway-dependent mitigation of mitochondrial oxidative stress.
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Advanced science (Weinheim, Baden-Wurttemberg, Germany)Analysis of real world FRα testing in ovarian, fallopian tube, and primary peritoneal cancers.
Gynecologic oncologyThe efficacy and safety of mirvetuximab soravtansine in FRα-positive, third-line and later, recurrent platinum-sensitive ovarian cancer: the single-arm phase II PICCOLO trial.
Annals of oncology : official journal of the European Society for Medical OncologyFolate Receptor Alpha-A Secret Weapon in Ovarian Cancer Treatment?
International journal of molecular sciencesEffect of Genotype on the Response to Diet in Cardiovascular Disease-A Scoping Review.
Healthcare (Basel, Switzerland)Enhancing mitochondrial one-carbon metabolism is neuroprotective in Alzheimer's disease models.
Cell death & diseaseThiamine-Responsive Megaloblastic Anemia Syndrome Mimicking Myelodysplastic Neoplasm.
Acta haematologicaLactobacillus Eats Amyloid Plaque and Post-Biotically Attenuates Senescence Due to Repeat Expansion Disorder and Alzheimer's Disease.
Antioxidants (Basel, Switzerland)Development of folate receptor targeting chimeras for cancer selective degradation of extracellular proteins.
Nature communicationsCharacterizing the genomic landscape through the lens of FOLR1 status in low and high grade serous ovarian carcinoma.
Gynecologic oncologyPanax notoginseng saponins and acetylsalicylic acid co-delivered liposomes for targeted treatment of ischemic stroke.
International journal of pharmaceuticsExposure-response relationships of mirvetuximab soravtansine in patients with folate receptor-α-positive ovarian cancer: Justification of therapeutic dose regimen.
British journal of clinical pharmacologyCalorie restriction exacerbates folic acid-induced kidney fibrosis by altering mitochondria metabolism.
The Journal of nutritional biochemistryA Homozygous Variant in NAA60 Is Associated with Primary Familial Brain Calcification.
Movement disorders : official journal of the Movement Disorder SocietyShort-term feed restriction induces inflammation and an antioxidant response via cystathionine-β-synthase and glutathione peroxidases in ruminal epithelium from Angus steers.
Journal of animal sciencePARP-1, EpCAM, and FRα as potential targets for intraoperative detection and delineation of endometriosis: a quantitative tissue expression analysis.
Reproductive biology and endocrinology : RB&EFolic Acid-Functionalized β-Cyclodextrin for Delivery of Organelle-Targeted Peptide Chemotherapeutics in Cancer.
Molecular pharmaceuticsRole of gut/liver metabolites and gut microbiota in liver fibrosis caused by cholestasis.
International immunopharmacologyCongenital Heart Disease and Genetic Changes in Folate/Methionine Cycles.
GenesSGLT2 inhibition leads to a restoration of hepatic and circulating metabolites involved in the folate cycle and pyrimidine biosynthesis.
American journal of physiology. Gastrointestinal and liver physiologyFolate Receptor Immunohistochemical Staining and Gynecologic Tumors: Initial Experience With 216 Cases.
International journal of gynecological pathology : official journal of the International Society of Gynecological PathologistsDolutegravir- Versus Efavirenz-Based Treatment in Pregnancy: Impact on Red Blood Cell Folate Concentrations in Pregnant Women and Their Infants.
The Journal of infectious diseasesMirvetuximab soravtansine in folate receptor alpha (FRα)-high platinum-resistant ovarian cancer: final overall survival and post hoc sequence of therapy subgroup results from the SORAYA trial.
International journal of gynecological cancer : official journal of the International Gynecological Cancer SocietyCombined ROS Sensitive Folate Receptor Targeted Micellar Formulations of Curcumin Effective Against Rheumatoid Arthritis in Rat Model.
International journal of nanomedicineEffect of probiotic administration during pregnancy on the functional diversity of the gut microbiota in healthy pregnant women.
Microbiology spectrumFolic Acid-Conjugated Brush Polymers Show Enhanced Blood-Brain Barrier Crossing in Static and Dynamic In Vitro Models Toward Brain Cancer Targeting Therapy.
ACS biomaterials science & engineeringCD163-Mediated Small-Vessel Injury in Alzheimer's Disease: An Exploration from Neuroimaging to Transcriptomics.
International journal of molecular sciencesRelationship between Changes of Serum Vascular Endothelial Growth Factor and Folate Receptor-α Levels and Clinical Efficacy of Toripalimab in Patients with Bladder Cancer.
Archivos espanoles de urologiaRemimazolam attenuates inflammation and kidney fibrosis following folic acid injury.
European journal of pharmacologyWNT-dependent interaction between inflammatory fibroblasts and FOLR2+ macrophages promotes fibrosis in chronic kidney disease.
Nature communicationsGSDMD and GSDME synergy in the transition of acute kidney injury to chronic kidney disease.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal AssociationExpression of the cobalamin transporters cubam and MRP1 in the canine ileum-Upregulation in chronic inflammatory enteropathy.
PloS oneInsight into the mechanism of gallstone disease by proteomic and metaproteomic characterization of human bile.
Frontiers in microbiologyMaternal folic acid and vitamin B12 supplementation during medium to late gestation promotes fetal development via improving placental antioxidant capacity, angiogenesis and amino acid transport.
Journal of the science of food and agricultureSensitivity and specificity of folate receptor α-positive circulating tumour cells in gastric cancer.
Postgraduate medical journalLineage specific extracellular vesicle-associated protein biomarkers for the early detection of high grade serous ovarian cancer.
Scientific reportsMutational analysis of FOLR1 and FOLR2 genes in children with Myelomeningocele.
Acta biochimica PolonicaMetabolomic biomarkers of habitual B vitamin intakes unveil novel differentially methylated positions in the human epigenome.
Clinical epigeneticsA sub-10-nm, folic acid-conjugated gold nanoparticle as self-therapeutic treatment of tubulointerstitial fibrosis.
Proceedings of the National Academy of Sciences of the United States of AmericaAlginate biopolymeric structures: Versatile carriers for bioactive compounds in functional foods and nutraceutical formulations: A review.
International journal of biological macromoleculesEffects of folate deficiency and sex on carcinogenesis in a mouse model of oral cancer.
Oral diseasesAnemia, Iron Deficiency, and Iron Regulators in Pancreatic Ductal Adenocarcinoma Patients: A Comprehensive Analysis.
Current oncology (Toronto, Ont.)FRET-based probe for ratiometric detection and imaging of folic acid in real-time.
Analytical biochemistryLysinuric protein intolerance presenting as pancytopenia and splenomegaly mimicking acute leukaemia: a case report.
BMC pediatricsTJ-17 (Goreisan) mitigates renal fibrosis in a mouse model of folic acid-induced chronic kidney disease.
Journal of pharmacological sciencesMaternal metabolism influences neural tube closure.
Trends in endocrinology and metabolism: TEMHypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature.
Orphanet journal of rare diseasesFolate receptor targeted NIR cleavable liposomal delivery system augment penetration and therapeutic efficacy in breast cancer.
Biochimica et biophysica acta. General subjectsSerine metabolism during differentiation of human iPSC-derived astrocytes.
The FEBS journalThe Influence of Alcohol Consumption on Intestinal Nutrient Absorption: A Comprehensive Review.
NutrientsEnhancer of zeste homolog 2 promotes renal fibrosis after acute kidney injury by inducing epithelial-mesenchymal transition and activation of M2 macrophage polarization.
Cell death & diseaseDietary Folate Deficiency Promotes Lactate Metabolic Disorders to Sensitize Lung Cancer Metastasis through MTOR-Signaling-Mediated Druggable Oncotargets.
NutrientsBrain Uptake of Folate Forms in the Presence of Folate Receptor Alpha Antibodies in Young Rats: Folate and Antibody Distribution.
NutrientsReanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyImpaired Function of Solute Carrier Family 19 Leads to Low Folate Levels and Lipid Droplet Accumulation in Hepatocytes.
BiomedicinesNewcastle Disease Virus Manipulates Mitochondrial MTHFD2-Mediated Nucleotide Metabolism for Virus Replication.
Journal of virologyThe role of maternal choline, folate and one-carbon metabolism in mediating the impact of prenatal alcohol exposure on placental and fetal development.
The Journal of physiologyTranscriptomic profiling of hepatic tissues for drug metabolism genes in nonalcoholic fatty liver disease: A study of human and animals.
Frontiers in endocrinologyA Paternal Methylation Error in the Congenital Hydrocephalic Texas (H-Tx) Rat Is Partially Rescued with Natural Folate Supplements.
International journal of molecular sciencesCerebral Folate Metabolism in Post-Mortem Alzheimer's Disease Tissues: A Small Cohort Study.
International journal of molecular sciencesFormononetin ameliorates ferroptosis-associated fibrosis in renal tubular epithelial cells and in mice with chronic kidney disease by suppressing the Smad3/ATF3/SLC7A11 signaling.
Life sciencesHigh Expression of Folate Receptor Alpha (FOLR1) is Associated With Aggressive Tumor Behavior, Poor Response to Chemoradiotherapy, and Worse Survival in Rectal Cancer.
Technology in cancer research & treatmentNovel localization of folate transport systems in the murine central nervous system.
Fluids and barriers of the CNSDecline of stress resilience in aging rats: Focus on choroid plexus-cerebrospinal fluid-hippocampus.
The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological PsychiatryFolate receptor alpha in ovarian cancer tissue and patient serum is associated with disease burden and treatment outcomes.
British journal of cancerElevated expression of receptors for EGF, PDGF, transferrin and folate within murine and human lupus nephritis kidneys.
Clinical immunology (Orlando, Fla.)Shotgun Metagenomics Study Suggests Alteration in Sulfur Metabolism and Oxidative Stress in Children with Autism and Improvement after Microbiota Transfer Therapy.
International journal of molecular sciencesGenetic Aspects of Micronutrients Important for Inflammatory Bowel Disease.
Life (Basel, Switzerland)Recognition of cyclic dinucleotides and folates by human SLC19A1.
NatureUltrasmall Folate Receptor Alpha Targeted Enzymatically Cleavable Silica Nanoparticle Drug Conjugates Augment Penetration and Therapeutic Efficacy in Models of Cancer.
ACS nanoCBFA2T3-GLIS2 model of pediatric acute megakaryoblastic leukemia identifies FOLR1 as a CAR T cell target.
The Journal of clinical investigationTargeted Mitochondrial Epigenetics: A New Direction in Alzheimer's Disease Treatment.
International journal of molecular sciencesEvaluation of the antimicrobial function of Ginkgo biloba exocarp extract against clinical bacteria and its effect on Staphylococcus haemolyticus by disrupting biofilms.
Journal of ethnopharmacologyZOOMICS : comparative metabolomics of red blood cells from dogs, cows, horses and donkeys during refrigerated storage for up to 42 days.
Blood transfusion = Trasfusione del sangueCerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies.
NutrientsGain-of-function, focal segmental glomerulosclerosis Trpc6 mutation minimally affects susceptibility to renal injury in several mouse models.
PloS oneBoron Nitride Nanoparticles Loaded with a Boron-Based Hybrid as a Promising Drug Carrier System for Alzheimer's Disease Treatment.
International journal of molecular sciencesIschemic Stroke and Dietary Vitamin B12 Deficiency in Old-Aged Females: Impaired Motor Function, Increased Ischemic Damage Size, and Changed Metabolite Profiles in Brain and Cecum Tissue.
NutrientsIntegrated proteomics and metabolomics analysis reveals hubs protein and network alterations in myasthenia gravis.
AgingAbsorption and Tissue Distribution of Folate Forms in Rats: Indications for Specific Folate Form Supplementation during Pregnancy.
NutrientsMitochondrial FAD shortage in SLC25A32 deficiency affects folate-mediated one-carbon metabolism.
Cellular and molecular life sciences : CMLSPralatrexate for Peripheral T-Cell Lymphoma (PTCL): Chance Only Supports The Prepared Mind.
Anti-cancer agents in medicinal chemistryA female case of 5,10-methenyltetrahydrofolate synthetase deficiency with novel neuro-imaging abnormalities.
Brain & developmentGlobal DNA hypomethylation of colorectal tumours detected in tissue and liquid biopsies may be related to decreased methyl-donor content.
BMC cancerVitamin B12 as a cholinergic system modulator and blood brain barrier integrity restorer in Alzheimer's disease.
European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical SciencesFolate Receptor Expression by Human Monocyte-Derived Macrophage Subtypes and Effects of Corticosteroids.
CartilageMechanosensitive Piezo1 channels mediate renal fibrosis.
JCI insightFolic Acid-Adorned Curcumin-Loaded Iron Oxide Nanoparticles for Cervical Cancer.
ACS applied bio materialsFolate Receptor Beta for Macrophage Imaging in Rheumatoid Arthritis.
Frontiers in immunologyGenetic inactivation of Semaphorin 3C protects mice from acute kidney injury.
Kidney internationalA novel role of BK potassium channel activity in preventing the development of kidney fibrosis.
Kidney internationalDetection of folate receptor-positive circulating tumor cells as a biomarker for diagnosis, prognostication, and therapeutic monitoring in breast cancer.
Journal of clinical laboratory analysisDesigning of a pH-activatable carbon dots as a luminescent nanoprobe for recognizing folate receptor-positive cancer cells.
NanotechnologyThe Cerebrospinal Fluid Concentration of Methyltetrahydrofolate and Serum Folate in Children with Developmental Delay, Regression, and/or Refractory Epilepsy.
Neurology IndiaEffectiveness of Some Vitamins in the Prevention of Cardiovascular Disease: A Narrative Review.
Frontiers in physiologyMolecular Insight into the Effect of a Single-Nucleotide Polymorphic Variation on the Structure and Dynamics of Methionine Synthase Reductase and Its Association with Neural Tube Defects.
ACS omegaA Novel Treatment for Glomerular Disease: Targeting the Activated Macrophage Folate Receptor with a Trojan Horse Therapy in Rats.
CellsFolic Acid and Autism: A Systematic Review of the Current State of Knowledge.
CellsA single genetic locus controls both expression of DPEP1/CHMP1A and kidney disease development via ferroptosis.
Nature communicationsThe Plasmodium falciparum ABC transporter ABCI3 confers parasite strain-dependent pleiotropic antimalarial drug resistance.
Cell chemical biologyThe Concept of Folic Acid in Health and Disease.
Molecules (Basel, Switzerland)Arabidopsis non-host resistance PSS30 gene enhances broad-spectrum disease resistance in the soybean cultivar Williams 82.
The Plant journal : for cell and molecular biologyIschemia-Reperfusion Injury Reduces Kidney Folate Transporter Expression and Plasma Folate Levels.
Frontiers in immunologyInborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention.
Frontiers in neuroscienceImmunotherapy using IgE or CAR T cells for cancers expressing the tumor antigen SLC3A2.
Journal for immunotherapy of cancerA Role for Folate in Microbiome-Linked Control of Autoimmunity.
Journal of immunology researchOral Administration of Ginger-Derived Lipid Nanoparticles and Dmt1 siRNA Potentiates the Effect of Dietary Iron Restriction and Mitigates Pre-Existing Iron Overload in Hamp KO Mice.
NutrientsFolic acid alleviates the blood brain barrier permeability and oxidative stress and prevents cognitive decline in sepsis-surviving rats.
Microvascular researchThe feasibility of folate receptor alpha- and HER2-targeted intraoperative fluorescence-guided cytoreductive surgery in women with epithelial ovarian cancer: A systematic review.
Gynecologic oncologyStructural basis of antifolate recognition and transport by PCFT.
NatureCerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene.
American journal of medical genetics. Part ACerebral folate transporter deficiency: a potentially treatable neurometabolic disorder.
Acta neurologica BelgicaPreparation of FA-targeted magnetic nanocomposites co-loading TFPI-2 plasmid and cis-platinum and its targeted therapy effects on nasopharyngeal carcinoma.
International journal of medical sciencesFolate-targeted verrucarin A reduces the number of activated macrophages in a mouse model of acute peritonitis.
Bioorganic & medicinal chemistry lettersAssociation of maternal folate use and reduced folate carrier gene polymorphisms with the risk of congenital heart disease in offspring.
European journal of pediatricsGenetic polymorphism in ATIC is associated with effectiveness and toxicity of pemetrexed in non-small-cell lung cancer.
ThoraxIdentification of fibroblast activation-related genes in two acute kidney injury models.
PeerJIn Vitro and In Vivo Efficacy of a Novel Glucose-Methotrexate Conjugate in Targeted Cancer Treatment.
International journal of molecular sciencesImmune Privilege: The Microbiome and Uveitis.
Frontiers in immunologyEfficacy and tolerability of folate-aminopterin therapy in a rat focal model of multiple sclerosis.
Journal of neuroinflammationFourth-generation chimeric antigen receptor T cells targeting folate receptor alpha antigen expressed on breast cancer cells for adoptive T cell therapy.
Breast cancer research and treatmentCo-expression patterns of chimeric antigen receptor (CAR)-T cell target antigens in primary and recurrent ovarian cancer.
Gynecologic oncologyFolate Receptor Alpha Is Preferentially Expressed in the Carcinoma Component of Endometrial Carcinosarcomas: A Potential Target for Adjuvant Therapy.
International journal of gynecological pathology : official journal of the International Society of Gynecological PathologistsAltered metabolism of mothers of young children with Autism Spectrum Disorder: a case control study.
BMC pediatricsPerspectives of Methotrexate-Based Radioagents for Application in Nuclear Medicine.
Molecular pharmaceuticsFirst case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient.
BMC medical genetics[Remethylation disorders: about two cases].
Annales de biologie cliniqueDevelopment of technetium-99m labeled ultrafine gold nanobioconjugates for targeted imaging of folate receptor positive cancers.
Nuclear medicine and biologyPNN and KCNQ1OT1 Can Predict the Efficacy of Adjuvant Fluoropyrimidine-Based Chemotherapy in Colorectal Cancer Patients.
Oncology researchAndrogenetic/Biparental Mosaic/Chimeric Conceptions With a Molar Component: A Diagnostic and Clinical Challenge.
International journal of gynecological pathology : official journal of the International Society of Gynecological PathologistsTh17-inducing autologous dendritic cell vaccination promotes antigen-specific cellular and humoral immunity in ovarian cancer patients.
Nature communicationsIntraoperative Molecular Imaging Utilizing a Folate Receptor-Targeted Near-Infrared Probe Can Identify Macroscopic Gastric Adenocarcinomas.
Molecular imaging and biologyIn Vitro and In Vivo Evaluation of Novel DTX-Loaded Multifunctional Heparin-Based Polymeric Micelles Targeting Folate Receptors and Endosomes.
Recent patents on anti-cancer drug discoveryLessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism.
The Journal of nutritionA phase II study of Mirvetuximab Soravtansine in triple-negative breast cancer.
Investigational new drugsOnco-fetal Reprogramming of Endothelial Cells Drives Immunosuppressive Macrophages in Hepatocellular Carcinoma.
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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.
- SLC46A1 deficiency-mediated folate restriction suppresses colorectal cancer progression through epigenetic-transcriptional reprogramming.
- A Nonketotic Hyperglycinemia Mouse Shows Wide-Ranging Biochemical Consequences of Elevated Glycine, Reduced Folate One-Carbon Charging, and Serine Deficiency.
- Tubule-Derived IFN-α Promotes GSDMD-Mediated Macrophage Pyroptosis to Drive Renal Inflammation and Fibrosis Through JAK2/STAT2 Activation.
- BiTE-secreting T cells rationally combine with PD-1 blockade and vaccine boosting to reshape antitumor immunity in ovarian cancer.Molecular therapy : the journal of the American Society of Gene Therapy· 2026· PMID 41029902mais citado
- Folate receptor 1 activation suppresses high glucose-induced amyloidogenesis in neurons via STAT3/Nrf2 pathway-dependent mitigation of mitochondrial oxidative stress.Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie· 2026· PMID 41633894mais citado
- Mast cell mediators in hereditary angioedema.
- Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
- Platelet gene signatures detecting pulmonary artery stenosis in patients with pulmonary hypertension.
- The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.
- Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:285657(Orphanet)
- MONDO:0017313(MONDO)
- GARD:21131(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55786977(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
