Metabolismo é o conjunto de transformações que as substâncias químicas sofrem no interior dos organismos vivos. A expressão metabolismo celular é usada em referência ao conjunto de todas as reações químicas que ocorrem nas células. Estas reações são responsáveis pelos processos de síntese e degradação dos nutrientes na célula e constituem a base da vida, permitindo o crescimento e reprodução das células, mantendo as suas estruturas e adequando respostas aos seus ambientes.
Introdução
O que você precisa saber de cara
Doença rara autossômica recessiva causada por mutações no gene AGXT, levando a um distúrbio no metabolismo do glioxilato. Manifesta-se com hiperoxalúria primária tipo 1, resultando em nefrolitíase por oxalato de cálcio, insuficiência renal e complicações sistêmicas como AVC e retinopatia.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 19 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 43 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
1 gene identificado com associação a esta condição.
Peroxisomal aminotransferase that catalyzes the transamination of glyoxylate to glycine and contributes to the glyoxylate detoxification (PubMed:10960483, PubMed:12777626, PubMed:23229545, PubMed:24055001, PubMed:26149463). Also catalyzes the transamination between L-serine and pyruvate and contributes to gluconeogenesis from the L-serine metabolism (PubMed:10347152)
Peroxisome
Hyperoxaluria primary 1
An inborn error of glyoxylate metabolism characterized by increased excretion of oxalate and glycolate, and progressive tissue accumulation of insoluble calcium oxalate. Affected individuals are at risk for nephrolithiasis, nephrocalcinosis and early onset end-stage renal disease.
Medicamentos e terapias
Mecanismo: Hydroxyacid oxidase 1 mRNA RNAi inhibitor
Mecanismo: Hydroxyacid oxidase 1 mRNA RNAi inhibitor
Mecanismo: L-lactate dehydrogenase A chain mRNA RNAi inhibitor
Variantes genéticas (ClinVar)
497 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Alteração do metabolismo do glioxilato
Centros de Referência SUS
21 centros habilitados pelo SUS para Alteração do metabolismo do glioxilato
Centros para Alteração do metabolismo do glioxilato
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.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
scResponse: A Rank-Based Method for Identifying Cell States That Contribute to Immunotherapy Response by Single-Cell Data.
Immunotherapy has shown great promise in cancer treatment, yet many patients fail to achieve long-term efficacy. Single-cell sequencing is a powerful technique for understanding how cellular diversity affects treatment outcomes; however, there remains a lack of robust methods for evaluating immunotherapy efficacy at single-cell resolution. In this study, we present scResponse, an efficient algorithm that quantifies single-cell responses to immunotherapy. scResponse captures subtle influences of diverse cellular subtypes and states on immunotherapy efficacy, including the effects of vascular normalization states of vascular cells, polarization of macrophages, terminal exhaustion of CD8+ T cells, and the opposing impacts from distinct fibroblast subtypes. By linking therapeutic response to single‑cell states, scResponse enables to delineate how distinct biological processes shape cellular states to drive divergent therapeutic outcomes. Integrated analysis across cancers identified key metabolic pathways associated with responsive states of tumor cells, including glyoxylate and dicarboxylate metabolism as immunotherapy-sensitizing and retinol metabolism as suppressing it. As a proof-of-concept, the opposing roles of glyoxylate and retinol metabolism was validated using tumor‑CD8+ T cell co-culture assays and in vivo mouse models. Thus, scResponse is an effective tool for mapping immunotherapy efficacy to single-cell states, enabling mechanistic insights and target discovery for developing novel immunotherapy sensitization strategies.
Impaired Acetyl-CoA Compartmentalization Drives a Futile Lipogenic-Oxidative Cycle in N88S Seipinopathy.
The N88S mutation in human seipin causes a dominant motor neuron disease marked by ER stress and inclusion body formation, lipid imbalance, and oxidative damage. However, the metabolic mechanisms connecting these defects remain poorly understood. Previous proteomic profiling in our yeast model of N88S human seipinopathy revealed decreased protein levels of enzymes involved in the tricarboxylic acid cycle, fatty acid and carboxylic acid metabolism, and the glyoxylate cycle, suggesting impaired downstream utilization of peroxisome-derived acetyl-CoA. Guided by these findings, we investigated how peroxisomal function contributes to cellular dyshomeostasis. N88S seipin-expressing cells exhibited increased peroxisome abundance but defective routing of acetyl-CoA into mitochondrial and glyoxylate pathways, resulting in elevated reactive oxygen species (ROS), impaired glyoxylate cycle activation, and reduced metabolic adaptability to non-fermentable carbon sources. Loss of peroxisomes or forced cytosolic redirection of acetyl-CoA further exacerbated ER stress, ROS accumulation, lipid peroxidation, and the growth defect on N88S seipin-expressing cells, whereas inhibition of fatty acid synthesis mitigated oxidative damage. These findings demonstrate that N88S seipin triggers a futile cycle in which misrouted cytosolic acetyl-CoA drives lipogenesis, amplifying oxidative damage and ER stress. We conclude that defective peroxisome-mitochondria metabolic coupling and acetyl-CoA misrouting may represent central pathogenic mechanisms driving cellular dysfunction in N88S-linked seipinopathy.
Luteolin prevents hyperoxaluria-induced renal injury by inhibiting crystal deposition and renal inflammation.
To evaluate the protective effects of Luteolin (LUT) against hyperoxaluria-induced renal injury and calcium oxalate (CaOx) crystal deposition, and to explore the underlying molecular mechanisms. The targets related to LUT and kidney stones were screened in a variety of databases, and the potential targets and pathways were identified by network pharmacology. Subsequently, the interaction between LUT and the core targets was verified by molecular docking and molecular dynamics simulation. Finally, a glyoxylate-induced kidney stone mouse model and high oxalate-induced HK2 cells were used to verify the effect and potential mechanism of LUT on kidney stone formation. Network pharmacology identified 223 intersecting targets between kidney stones and LUT, with KEGG enrichment highlighting the PI3K/Akt signaling pathway. Molecular docking revealed a strong binding affinity between LUT and p85α (-6.947 kcal/mol), and molecular dynamics simulations confirmed complex stability after 25 ns. In vivo, LUT significantly reduced renal calcium oxalate (CaOx) crystal deposition and alleviated tissue injury in the mouse model. In vitro, LUT effectively inhibited oxalate-induced PI3K/Akt activation and inflammatory cytokine production in HK-2 cells. Furthermore, CETSA analysis suggested a potential target engagement between LUT and p85α. This study suggests a protective effect of LUT against kidney stone formation at multiple levels. Our results indicate that LUT attenuates renal calcium crystal deposition, potentially through the inhibition of the PI3K/Akt signaling pathway. These findings provide new insights into the use of natural products for the prevention of nephrolithiasis.
Genetic Correction of the Most Common Mutation Causing Primary Hyperoxaluria Restores Enzyme Localization and Oxalate Metabolism.
Our research aimed to model primary hyperoxaluria type 1 in vitro using a stem cell model and assess the potential of adenine base editors in correcting the most common pathogenic AGXT genetic variant, c.508G>A (Gly170Arg), which leads to oxalate accumulation due to alanine-glyoxylate aminotransferase mislocalization. Patient-derived fibroblasts were induced to pluripotent stem cells, genetically corrected with adenine base editing, and subsequently differentiated into hepatocyte-like cells in parallel with their non-corrected isogenic counterparts. Enzyme localization was assessed through immunocytochemistry and confocal microscopy. The key metabolites associated with the disease were analyzed using liquid chromatography-mass spectrometry to evaluate the metabolic phenotype. Finally, lipid nanoparticle formulations were designed and tested as an in vivo-applicable delivery method for base editors. All induced pluripotent stem cell lines successfully differentiated into hepatocyte-like cells and expressed essential hepatocyte markers, including ALB, HNF1A, and AGXT. Adenine base editor-mediated genetic correction of the pathogenic AGXT mutation restored enzyme localization into peroxisomes and diminished oxalate accumulation without significant off-target effects. Base editor mRNA and AGXT variant targeting single guide RNA encapsulated within lipid nanoparticles mediated gene correction in the hepatocyte-like cell model. Using an in vitro model of primary hyperoxaluria type 1, we showed that base editor-mediated genetic correction of the most common hyperoxaluria-causing variant corrects enzyme mislocalization from mitochondria to peroxisomes and improves metabolic function. These results propose gene correction as a potential therapeutic approach to hyperoxaluria.
Deciphering the molecular regulatory mechanism underlying behavioral disorders and cardiac damage in Eriocheir sinensis under saline-alkaline environment.
With the exacerbation of global warming, the salinization of both land and water resource is becoming increasingly severe. As a widely distributed economic crustacean, investigating the impact mechanism of saline-alkaline environment on Chinese mitten crab (Eriocheir sinensis) holds significant importance. Behavioral, histological, and molecular regulatory mechanism are crucial for elucidating the pathological injury in organisms. The heart, being a core organ involved in lifespan regulation, plays a pivotal role in this context. In this study, we employed behavioral, cellular/ultrastructural morphological analysis, along with integrative omics approach, to uncover the pathological injury mechanism in the heart of E. sinensis under saline-alkaline stress. The present research demonstrated that saline-alkaline stress induced behavioral disorder and histological damage, including adipocyte infiltration and subcellular injury such as ruptured mitochondrial cristae, enlarged endoplasmic reticulum, and dilated Golgi apparatus. An integrative analysis of the top 10 KEGG and GSEA pathways revealed significant downregulation in "Glyoxylate and dicarboxylate metabolism", "Propanoate metabolism", and "Fatty acid degradation", all of which were associated with energy metabolism and cardiac function. These metabolic changes collectively contributed to cardiac damage in E. sinensis under saline-alkaline stress. This study, for the first time, elucidated the mechanism of heart damage in E. sinensis under saline-alkaline condition from multiple perspectives. It provides critical insights into the comprehensive damage mechanism of E. sinensis in such environment, offers a theoretical reference for developing the E. sinensis breeding industry under saline-alkaline condition, and contributes to understanding the impact of climate change on crustaceans. Moreover, the utilization of the high-throughput histopathological analysis tool CellProfiler can significantly enhance research into pathological damage in E. sinensis as well as in other crustacean species.
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Targeting Oxalate Production by Combining Enzyme Inhibition and Proteolysis Activation: A Novel Therapeutic Approach for Primary Hyperoxaluria Type 1.
The Effect of Dietary Lemon Intake on Organic Acids in Morning Urine.
Bardoxolone methyl (Bard)-mediated strong suppression of calcium oxalate crystal formation in renal crystal recurrence model.
📚 EuropePMCmostrando 200
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NeuroendocrinologyInvestigation of the Potential Material Basis and Mechanism of Astragali Radix Against Adriamycin-Induced Nephropathy Model Rat by 1H NMR and MS-Based Untargeted Metabolomics Analysis.
Biomedical chromatography : BMC[Serum metabolomics reveals effects of standard decoction and formula granules of Paeoniae Radix Rubra on rat model of heat toxin and blood stasis].
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Frontiers in endocrinologyGlucose-Sensing ChREBP Protein in the Pathogenesis of Dia-betic Retinopathy.
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UrolithiasisTherapeutic targets of antidiabetic drugs and kidney stones: A druggable mendelian randomization study and experimental study in rats.
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International journal of biological macromoleculesSerum metabolite profiles of thyroid autoimmunity patients in early pregnancy.
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Scientific reportsPolyphenol-enriched fraction from a Chinese herbal compound granule protects against D-galactose-induced apoptosis and metabolic disorders in PC12 cells.
American journal of translational researchDistinct Hippocampal Expression Profiles of lncRNAs in Obese Type 2 Diabetes Mice Exhibiting Cognitive Impairment.
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Kidney & blood pressure researchCerebral net uptake of lactate contributes to neurological injury after experimental cardiac arrest in rabbits.
Scientific reportsLipopolysaccharide aggravating anaphylactoid reactions caused by traditional Chinese Medicine injections via p38/ERK/NF-κB signaling pathways.
Journal of ethnopharmacologyDiet-induced hyperoxaluria: A case based mini-review.
Clinical nephrology. Case studiesSelenium polysaccharide form sweet corn cob mediated hypoglycemic effects in vitro and untargeted metabolomics study on type 2 diabetes.
International journal of biological macromoleculesEfficient and safe in vivo treatment of primary hyperoxaluria type 1 via LNP-CRISPR-Cas9-mediated glycolate oxidase disruption.
Molecular therapy : the journal of the American Society of Gene TherapyS100A9 promotes renal calcium oxalate stone formation via activating the TLR4-p38/MAPK-LCN2 signaling pathway.
International journal of biological macromoleculesA Phase II Clinical Study on Apatinib Plus Vinorelbine in Refractory HER2-Negative Breast Cancer and its Metabolic Implications of Drug Resistance.
Current cancer drug targetsInfant primary hyperoxaluria type 1: A case report and literature review.
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciencesDeciphering metabolomics and lipidomics landscape in zebrafish hypertrophic cardiomyopathy model.
Scientific reportsEffects of phosphorus-solubilizing bacteria and biochar application on phosphorus availability and tomato growth under phosphorus stress.
BMC biologyGlyoxylate supplementation ameliorates colitis associated colon cancer progression.
Journal of cellular physiologyHair-straightening cosmetics containing glyoxylic acid induce crystalline nephropathy.
Kidney internationalMetabolomics studies in common multifactorial eye disorders: a review of biomarker discovery for age-related macular degeneration, glaucoma, diabetic retinopathy and myopia.
Frontiers in molecular biosciencesLuminescence-based complementation assay to assess target engagement and cell permeability of glycolate oxidase (HAO1) inhibitors.
BiochimieOverview of Bovine Mastitis: Application of Metabolomics in Screening Its Predictive and Diagnostic Biomarkers.
Animals : an open access journal from MDPIThe Evolving Role of Genetic Testing in Monogenic Kidney Stone Disease: Spotlight on Primary Hyperoxaluria.
The Journal of urology4-hydroxy-2-oxoglutarate metabolism in a mouse model of Primary Hyperoxaluria Type 3.
Biochemistry and biophysics reportsGenome-wide association study and pathway analysis to decipher loci associated with Fusarium ear rot resistance in tropical maize germplasm.
Genetic resources and crop evolutionIsocitrate lyase promotes Puccinia striiformis f. sp. tritici susceptibility in wheat (Triticum aestivum) by suppressing accumulation of glyoxylate cycle intermediates.
The Plant journal : for cell and molecular biologyOxalates: Dietary Oxalates and Kidney Inflammation: A Literature Review.
Integrative medicine (Encinitas, Calif.)LncRNA CRNDE promotes hepatoma cell proliferation by regulating the metabolic reprogramming of M2 macrophages via ERK pathway.
Cancer cell internationalTargeted and untargeted serum NMR metabolomics to reveal initial kidney disease in diabetes mellitus.
Journal of pharmaceutical and biomedical analysisThe miR-23b-3p from adipose-derived stem cell exosomes alleviate inflammation in mice experiencing kainic acid-induced epileptic seizures.
NeuroreportColorectal Cancer Detection via Metabolites and Machine Learning.
Current issues in molecular biologyLive and pasteurized Akkermansia muciniphila ameliorates diabetic cognitive impairment by modulating gut microbiota and metabolites in db/db mice.
Experimental neurologyDiagnosis and management of primary hyperoxalurias: best practices.
Pediatric nephrology (Berlin, Germany)Causality of Genetically Determined Metabolites on Chronic Kidney Disease: A Two-Sample Mendelian Randomization Study In Silico.
Metabolic syndrome and related disordersA pseudo-targeted metabolomics for discovery of potential biomarkers of cardiac hypertrophy in rats.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciencesNedosiran Safety and Efficacy in PH1: Interim Analysis of PHYOX3.
Kidney international reportsExpanding the Genetic Spectrum of AGXT Gene Variants in Egyptian Patients with Primary Hyperoxaluria Type I.
Genetic testing and molecular biomarkersA molecular journey on the pathogenesis of primary hyperoxaluria.
Current opinion in nephrology and hypertensionRestored glyoxylate metabolism after AGXT gene correction and direct reprogramming of primary hyperoxaluria type 1 fibroblasts.
iScienceA multi-omics study reveals the therapeutic effect of Linderae Radix water extract on irritable bowel syndrome (IBS-D).
Journal of ethnopharmacologyIdentification of complex III, NQR, and SDH as primary bioenergetic enzymes during the stationary phase of Pseudomonas aeruginosa cultured in urine-like conditions.
Frontiers in microbiologyInvestigating D-Amino Acid Oxidase Expression and Interaction Network Analyses in Pathways Associated With Cellular Stress: Implications in the Biology of Aging.
Bioinformatics and biology insightsThe interactions and biological pathways among metabolomics products of patients with coronary heart disease.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieIntegrated multi-omics analysis reveals gut microbiota dysbiosis and systemic disturbance in major depressive disorder.
Psychiatry researchUrinary metabolic profiles during Helicobacter pylori eradication in chronic gastritis.
World journal of clinical casesDeficient butyrate metabolism in the intestinal microbiome is a potential risk factor for recurrent kidney stone disease.
UrolithiasisMrc1+ macrophage-derived IGF1 mitigates crystal nephropathy by promoting renal tubule cell proliferation via the AKT/Rb signaling pathway.
TheranosticsPlasma metabolomic differences in early-onset compared to average-onset colorectal cancer.
Scientific reportsMetabolomics and Biomarkers for Paroxysmal and Persistent Atrial Fibrillation.
Journal of the American Heart AssociationLate Presentation of Primary Oxalosis, Microcrystalline Arthropathy, and Tumoral Calcinosis: A Case Report and a Literature Review.
Current rheumatology reviewsInsights into the pathogenesis of primary hyperoxaluria type I from the structural dynamics of alanine:glyoxylate aminotransferase variants.
FEBS lettersGlycolate oxidase-1 gene variants influence the risk of hyperoxaluria and renal stone development.
World journal of urologyGlyoxylate reductase: Definitive identification in human liver mitochondria, its importance for the compartment-specific detoxification of glyoxylate.
Journal of inherited metabolic diseaseCCR2 antagonist attenuates calcium oxalate-induced kidney oxidative stress and inflammation by regulating macrophage activation.
Experimental animalsDownregulating miR-184 relieves calcium oxalate crystal-mediated renal cell damage via activating the Rap1 signaling pathway.
AgingIn vivo base editing rescues primary hyperoxaluria type 1 in rats.
Kidney internationalThe significance of persisters in tuberculosis drug discovery: Exploring the potential of targeting the glyoxylate shunt pathway.
European journal of medicinal chemistryGene expression changes throughout the life cycle allow a bacterial plant pathogen to persist in diverse environmental habitats.
PLoS pathogensSignificant alteration of protein profiles in a mouse model of polycystic ovary syndrome.
Molecular reproduction and developmentAlterations in gastric and gut microbiota following sleeve gastrectomy in high-fat diet-induced obese rats.
Scientific reportsPlatelet indices and angiogenesis markers in hypertensive disorders of pregnancy.
International journal of laboratory hematologyIdentification and characterization of Glycolate oxidase gene family in garden lettuce (Lactuca sativa cv. 'Salinas') and its response under various biotic, abiotic, and developmental stresses.
Scientific reportsYoung Male With End-Stage Renal Disease Due to Primary Hyperoxaluria Type 2: A Rare Presentation.
CureusSTAT6 promoting oxalate crystal deposition-induced renal fibrosis by mediating macrophage-to-myofibroblast transition via inhibiting fatty acid oxidation.
Inflammation research : official journal of the European Histamine Research Society ... [et al.]TMT and PRM Based Quantitative Proteomics to Explore the Protective Role and Mechanism of Iristectorin B in Stroke.
International journal of molecular sciencesEffect of Cordyceps militaris Powder Prophylactic Supplementation on Intestinal Mucosal Barrier Impairment and Microbiota-Metabolites Axis in DSS-Injured Mice.
NutrientsLipidomics based on liquid chromatography-high resolution mass spectrometry reveals the protective role of peroxisome proliferator-activated receptor alpha on kidney stone formation in mice treated with glyoxylate.
Journal of separation science[Determination of phenylglyoxylic acid and mandelic acid in urine by ultra high performance liquid chromatography tandem mass spectrometry].
Zhonghua lao dong wei sheng zhi ye bing za zhi = Zhonghua laodong weisheng zhiyebing zazhi = Chinese journal of industrial hygiene and occupational diseasesProteomics and β-hydroxybutyrylation Modification Characterization in the Hearts of Naturally Senescent Mice.
Molecular & cellular proteomics : MCPOxalate (dys)Metabolism: Person-to-Person Variability, Kidney and Cardiometabolic Toxicity.
GenesThe glyoxylate shunt protein ICL-1 protects from mitochondrial superoxide stress through activation of the mitochondrial unfolded protein response.
Free radical biology & medicinePerturbations of Glutathione and Sphingosine Metabolites in Port Wine Birthmark Patient-Derived Induced Pluripotent Stem Cells.
MetabolitesClinical physiology and pharmacology of GSTZ1/MAAI.
Biochemical pharmacologyVIRMA promotes neuron apoptosis via inducing m6A methylation of STK10 in spinal cord injury animal models.
CNS neuroscience & therapeuticsLate Diagnosis of Primary Hyperoxaluria in an Adult Patient With End-Stage Renal Disease and Bicytopenia.
CureusMelatonin alleviates intrarenal CaOx crystals deposition through inhibiting LPS-induced non-canonical inflammasome-mediated renal tubular epithelial cells pyroptosis.
International immunopharmacologyIntegrating proteomic data with metabolic modeling provides insight into key pathways of Bordetella pertussis biofilms.
Frontiers in microbiologyHydroxycitric acid prevents hyperoxaluric-induced nephrolithiasis and oxidative stress via activation of the Nrf2/Keap1 signaling pathway.
Cell cycle (Georgetown, Tex.)Metagenomic analysis of soybean endosphere microbiome to reveal signatures of microbes for health and disease.
Journal, genetic engineering & biotechnologyA bacterial enzyme may correct 2-HG accumulation in human cancers.
Frontiers in oncologyArecoline aggravates acute ulcerative colitis in mice by affecting intestinal microbiota and serum metabolites.
Frontiers in immunologyInhibition of AT1R/IP3/IP3R-mediated Ca2+ release protects against calcium oxalate crystals-induced renal oxidative stress.
Chemico-biological interactionsSerum and urine metabolomic biomarkers for predicting prognosis in patients with immunoglobulin A nephropathy.
Kidney research and clinical practiceDefence-related metabolic changes in wheat (Triticum aestivum L.) seedlings in response to infection by Puccinia graminis f. sp. tritici.
Frontiers in plant scienceDiagnostic policies on nephrolithiasis/nephrocalcinosis of possible genetic origin by Italian nephrologists: a survey by the Italian Society of Nephrology with an emphasis on primary hyperoxaluria.
Journal of nephrologyIntegrative Analysis of Proteome-wide Association Studies and Functional Enrichment Analysis to Identify Genes and Chemicals Associated with Alcohol Dependence.
Journal of addiction medicineUsing a multi-omic approach to investigate the mechanism of 12-bis-THA activity against Burkholderia thailandensis.
Frontiers in microbiologyMetabolome Profiling and Pathway Analysis in Metabolically Healthy and Unhealthy Obesity among Chinese Adolescents Aged 11-18 Years.
MetabolitesGenetic loci of beta-aminoisobutyric acid are associated with aging-related mild cognitive impairment.
Translational psychiatryGlyoxylic Acid, an α-Keto Acid Metabolite Derived from Glycine, Promotes Myogenesis in C2C12 Cells.
NutrientsUntargeted metabolomics and lipidomics to assess plasma metabolite changes in dairy goats with subclinical hyperketonemia.
Journal of dairy scienceMicrobiota alteration of Chinese young male adults with high-status negative cognitive processing bias.
Frontiers in microbiologyETNPPL modulates hyperinsulinemia-induced insulin resistance through the SIK1/ROS-mediated inactivation of the PI3K/AKT signaling pathway in hepatocytes.
Journal of cellular physiologyPrimary hyperoxaluria type 1 in children: clinical and laboratory manifestations and outcome.
Pediatric nephrology (Berlin, Germany)LC-MS/MS-based metabolomic profiling identifies candidate biomarkers in follicular fluid of infertile women with chronic pelvic inflammatory disease.
International journal of clinical and experimental pathologyAlterations in intestinal microbiota and metabolites in individuals with Down syndrome and their correlation with inflammation and behavior disorders in mice.
Frontiers in microbiologyQuantitative analysis of the bioenergetics of Mycobacterium tuberculosis along with Glyoxylate cycle as a drug target under inhibition of enzymes using Petri net.
Computational biology and chemistryTherapeutic effect of Yiyi Fuzi Baijiang formula on TNBS-induced ulcerative colitis via metabolism and Th17/Treg cell balance.
Journal of ethnopharmacologyEffects of electroacupuncture on urinary metabolome and microbiota in presenilin1/2 conditional double knockout mice.
Frontiers in microbiologyIdentification of AGXT2, SHMT1, and ACO2 as important biomarkers of acute kidney injury by WGCNA.
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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.
- scResponse: A Rank-Based Method for Identifying Cell States That Contribute to Immunotherapy Response by Single-Cell Data.
- Impaired Acetyl-CoA Compartmentalization Drives a Futile Lipogenic-Oxidative Cycle in N88S Seipinopathy.
- Luteolin prevents hyperoxaluria-induced renal injury by inhibiting crystal deposition and renal inflammation.
- Genetic Correction of the Most Common Mutation Causing Primary Hyperoxaluria Restores Enzyme Localization and Oxalate Metabolism.
- Deciphering the molecular regulatory mechanism underlying behavioral disorders and cardiac damage in Eriocheir sinensis under saline-alkaline environment.Comparative biochemistry and physiology. Toxicology & pharmacology : CBP· 2026· PMID 41861931mais citado
- Targeted serum metabolomics reveals alterations in amino acid and neurotransmitter pathways in Parkinson's disease.
- Targeting Oxalate Production by Combining Enzyme Inhibition and Proteolysis Activation: A Novel Therapeutic Approach for Primary Hyperoxaluria Type 1.
- The Effect of Dietary Lemon Intake on Organic Acids in Morning Urine.
- Bardoxolone methyl (Bard)-mediated strong suppression of calcium oxalate crystal formation in renal crystal recurrence model.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:308998(Orphanet)
- MONDO:0017703(MONDO)
- GARD:21312(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55787289(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