Raras
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Alteração do metabolismo do glioxilato
ORPHA:308998CID-11 · 5C51.2DOENÇA RARA

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.

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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.

Medicamentos
3 registrados
LUMASIRAN SODIUM, LUMASIRAN, NEDOSIRAN SODIUM

Tem tratamento?

3 medicamentos registrados
Ver detalhes, fases e interações →
LUMASIRAN SODIUMLUMASIRANNEDOSIRAN SODIUM
🏥
SUS: Cobertura mínimaScore: 20%
Centros em: DF, PR, SC, RS, ES +8
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

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

Partes do corpo afetadas

🫘
Rins
10 sintomas
🦴
Ossos e articulações
4 sintomas
👁️
Olhos
3 sintomas
🧠
Neurológico
2 sintomas
❤️
Coração
2 sintomas
🩸
Sangue
1 sintomas

+ 19 sintomas em outras categorias

Características mais comuns

Aumento da densidade mineral óssea
Acidente vascular cerebral
Retinopatia
Estenose arterial periférica
Nefrolitíase por oxalato de cálcio
Anemia
43sintomas
Sem dados (43)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 43 características clínicas mais associadas, ordenadas por frequência.

Aumento da densidade mineral ósseaIncreased bone mineral density
Acidente vascular cerebralStroke
RetinopatiaRetinopathy
Estenose arterial periféricaPeripheral arterial stenosis
Nefrolitíase por oxalato de cálcioCalcium oxalate nephrolithiasis

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa4
Últimos 10 anos200publicações
Pico202575 papers
Linha do tempo
2022Hoje · 2026📈 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

1 gene identificado com associação a esta condição.

AGXTAlanine--glyoxylate aminotransferaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

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)

LOCALIZAÇÃO

Peroxisome

VIAS BIOLÓGICAS (1)
Peroxisomal protein import
MECANISMO DE DOENÇA

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.

OUTRAS DOENÇAS (1)
primary hyperoxaluria type 1
HGNC:341UniProt:P21549

Medicamentos e terapias

LUMASIRAN SODIUMPhase 4

Mecanismo: Hydroxyacid oxidase 1 mRNA RNAi inhibitor

LUMASIRANPhase 3

Mecanismo: Hydroxyacid oxidase 1 mRNA RNAi inhibitor

NEDOSIRAN SODIUMPhase 2

Mecanismo: L-lactate dehydrogenase A chain mRNA RNAi inhibitor

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

497 variantes patogênicas registradas no ClinVar.

🧬 AGXT: GRCh37/hg19 2q33.3-37.3(chr2:206965837-242783384)x3 ()
🧬 AGXT: NM_000030.3(AGXT):c.346G>C (p.Gly116Arg) ()
🧬 AGXT: NM_000030.3:c.1_595del ()
🧬 AGXT: NM_000030.3(AGXT):c.358+1G>A ()
🧬 AGXT: NM_000030.3(AGXT):c.193C>T (p.Gln65Ter) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

2 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
Aprovado1
3Fase 31
2Fase 21
Medicamentos catalogadosEnsaios clínicos· 3 medicamentos · 0 ensaios
✓ Aprovados — podem ser usados hoje
LUMASIRAN SODIUM
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 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

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

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

scResponse: A Rank-Based Method for Identifying Cell States That Contribute to Immunotherapy Response by Single-Cell Data.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)2026 Mar 23

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.

#2

Impaired Acetyl-CoA Compartmentalization Drives a Futile Lipogenic-Oxidative Cycle in N88S Seipinopathy.

Cells2026 Feb 24

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.

#3

Luteolin prevents hyperoxaluria-induced renal injury by inhibiting crystal deposition and renal inflammation.

The international journal of biochemistry & cell biology2026 May

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.

#4

Genetic Correction of the Most Common Mutation Causing Primary Hyperoxaluria Restores Enzyme Localization and Oxalate Metabolism.

Journal of inherited metabolic disease2026 Jan

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.

#5

Deciphering the molecular regulatory mechanism underlying behavioral disorders and cardiac damage in Eriocheir sinensis under saline-alkaline environment.

Comparative biochemistry and physiology. Toxicology & pharmacology : CBP2026 Mar 18

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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Ver todas no PubMed

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scResponse: A Rank-Based Method for Identifying Cell States That Contribute to Immunotherapy Response by Single-Cell Data.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
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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
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The hippo-YAP1/TEAD1-SLC7A5 axis: uncovering a novel therapeutic target for oxalate-induced renal tubular ferroptosis.

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Impaired Acetyl-CoA Compartmentalization Drives a Futile Lipogenic-Oxidative Cycle in N88S Seipinopathy.

Cells
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Targeted serum metabolomics reveals alterations in amino acid and neurotransmitter pathways in Parkinson's disease.

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Clinical Approaches and Emerging Therapeutic Horizons in Primary Hyperoxaluria.

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Luteolin prevents hyperoxaluria-induced renal injury by inhibiting crystal deposition and renal inflammation.

The international journal of biochemistry & cell biology
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The C2H2-GGAT Regulatory Module Fine-Tunes Glutamate Homeostasis to Improve Fruit Flavour and Enhance Disease Resistance in Peach.

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Primary hyperoxaluria(s): from trials to real-life data and pipeline therapies.

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Impact of Toll/Interleukin-1 Receptor Domain Protein C on Mesenchymal Stem Cells Mitochondrial Protein Expression: A Proteomic Study.

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Multi-Omics and Network Pharmacology Reveal Calycosin as a Candidate Metabolic Modulator in COPD.

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Current status of primary hyperoxaluria type 1 in Japan.

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Targeting Oxalate Production by Combining Enzyme Inhibition and Proteolysis Activation: A Novel Therapeutic Approach for Primary Hyperoxaluria Type 1.

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Nanobodies as therapies for loss-of-function misfolding diseases: the example of Primary Hyperoxaluria Type 1.

International journal of biological macromolecules
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Elevated cerebrospinal fluid 2-Hydroxybutyric acid in two siblings with aspartate-glutamate carrier 1 deficiency.

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Genetic Correction of the Most Common Mutation Causing Primary Hyperoxaluria Restores Enzyme Localization and Oxalate Metabolism.

Journal of inherited metabolic disease
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The Effect of Dietary Lemon Intake on Organic Acids in Morning Urine.

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Bardoxolone methyl (Bard)-mediated strong suppression of calcium oxalate crystal formation in renal crystal recurrence model.

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Metabolomic Investigation of Myelodysplastic Syndromes, Multiple Myeloma, and Homozygous β-Thalassemia.

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Metabolomics : Official journal of the Metabolomic Society
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Molecular Insights into Ammonium Sulfate-Induced Secretome Reprogramming of Bacillus subtilis Czk1 for Enhanced Biocontrol Against Rubber Tree Root Rot.

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Unraveling the persistent renal impact of intrauterine growth restriction and catch-up growth: integrating morphological insights with metabolomic profiling.

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Primary Hyperoxaluria Type 2 Masquerading as Chronic Kidney Disease of Unknown Origin in an Adolescent: A Case Report.

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Proteome and Ubiquitinome Analyses Reveal the Involvement of Ubiquitination in Resistance to Maize Lethal Necrosis.

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The metabolome of fecal extracellular vesicles in patients with malignant solid tumors.

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Chronic stress in mice: how gut bacteria influence gene activity in key brain neurons.

Translational psychiatry
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Gut Microbiota-Derived butyric acid attenuates kidney stone formation in humans and mice.

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

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Functional analysis of amino acid substitutions within human AGT1 in a cell-based platform to support the diagnosis of primary hyperoxaluria type 1.

The Journal of biological chemistry
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Predictive effect and clinical diagnosis significance of exosome-related genes for nonalcoholic fatty liver disease-related hepatocellular carcinoma.

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Dietary baking soda (NaHCO3) therapy recovered urolithiasis-induced kidney injury in mice by inhibition of oxidative stress, pyroptosis, and inflammation through gut-kidney axis.

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Plasma Glycolate Levels Contribute to Drive the Decision of Isolated Kidney Transplantation in Dialyzed Patients with End-Stage Kidney Disease due to Primary Hyperoxaluria Type 1 Treated with Lumasiran: A Case Report.

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Pivotal role of AhR protein in the therapeutic efficacy of HuangKui capsule against calcium oxalate-induced kidney damage: An integrated study of network pharmacology and experimental verification.

International journal of biological macromolecules
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ACOT4 and ACOT6 Activate Akt-mTOR Pathway and Inhibit Calcium Oxalate-Induced Renal Tubular Cell Injury.

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A Minor Haplotype Variant Determines the Pathogenicity of the p.Ile279Thr Substitution in the Primary Hyperoxaluria Type 1 Gene, AGXT.

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Elevated butyric acid and histamine in feces and serum as an indicator of onset of necrotic enteritis in broiler chickens.

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Proteomics and succinylation modification characterization in clear cell renal cell carcinoma.

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Metabolic pathways mediating insulin resistance and gestational diabetes mellitus discovered by high-dimensional systematic Mendelian randomization.

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The efficacy and safety of RNA interference for the treatment of primary hyperoxaluria: a systematic review and meta-analysis.

Clinical kidney journal
2025

Hidden in CAKUT: Post-Transplant Diagnosis of Primary Hyperoxaluria Type 1 and Rescue Management Using Lumasiran.

Pediatric transplantation
2025

Plasma and urinary metabolomic signatures differentiate genetic and idiopathic Parkinson's disease.

Brain research
2025

Preclinical evaluation of AGT mRNA replacement therapy for primary hyperoxaluria type I disease.

Science advances
2025

Mesenchymal stem cells attenuate hyperoxaluria-induced kidney injury and crystal depositions via inhibiting the activation of NLRP3 inflammasome.

Life sciences
2025

Effect of the location and severity of partial ureteral obstruction on urinary system stone disease formation.

Scientific reports
2025

A synthesis and quantification method for endogenous metabolites dimethylguanidino valeric acid.

Scientific reports
2025

Klotho alleviates oxidative stress and mitochondrial dysfunction through the Nrf2/HO-1 pathway, thereby reducing renal senescence induced by calcium oxalate crystals.

Urolithiasis
2025

Sodium glucose co-transporter 2 inhibitor prevents nephrolithiasis in non-diabetes by restoring impaired autophagic flux.

EBioMedicine
2025

Multimodal Metabolomic Analysis Reveals Novel Metabolic Disturbances in Adults With Early Treated Phenylketonuria.

JIMD reports
2025

Enhancer Profiling Reveals a Protective Role of RXRα Against Calcium Oxalate-Induced Crystal Deposition and Kidney Injury.

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

Metabolomics based analysis reveals the therapeutic effects of Incarvillea arguta (Royle) Royle aqueous extract against alcohol-induced liver injury.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2025

Immunomodulation of Glycyrrhiza Polysaccharides In Vivo Based on Microbiome and Metabolomics Approaches.

Foods (Basel, Switzerland)
2025

Rutin ameliorates calcium oxalate crystal-induced kidney injury through anti-oxidative stress and modulation of intestinal flora.

Urolithiasis
2025

Inhibition of NLRP3 alleviates calcium oxalate crystal-induced renal fibrosis and crystal adhesion.

Urolithiasis
2025

Unveiling the tissue-specific landscape of nuclear-encoded mitochondrial genes involved in amino acid  metabolism in buffalo.

Amino acids
2025

Genetic Diagnosis of Hyperoxaluria Type 3 Patients Using Haplotype Analysis.

Kidney & blood pressure research
2025

[Mechanism of Jiawei Xionggui Decoction in ameliorating cognitive impairment in APP/PS1 mice based on network pharmacology and metabolomics].

Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica
2025

Comprehensive analysis of the succinylome in Vero cells infected with peste des petits ruminants virus Nigeria 75/1 vaccine strain.

BMC veterinary research
2025

Metabolic dysfunction associated steatotic liver and kidney stones: what is going on?

Current opinion in nephrology and hypertension
2025

Identification of novel hub gene and biological pathways associated with ferroptosis in In-Stent restenosis.

Gene
2025

Nedosiran in pediatric patients with PH1 and relatively preserved kidney function, a phase 2 study (PHYOX8).

Pediatric nephrology (Berlin, Germany)
2025

Glucose-Sensing Carbohydrate Response Element-Binding Protein in the Pathogenesis of Diabetic Retinopathy.

Cells
2025

The protective effect and potential mechanism of Zanthoxylum bungeanum Maxim. on atherosclerosis.

Fitoterapia
2025

Within-host evolution of a transcriptional regulator contributes to the establishment of chronic Pseudomonas aeruginosa infection.

Cell reports
2025

Effective Newborn Screening for Type 1 and 3 Primary Hyperoxaluria.

Kidney international reports
2025

Synergistic Synbiotic-Containing Lactiplantibacillus plantarum and Fructo-Oligosaccharide Alleviate the Allergenicity of Mice Induced by Soy Protein.

Foods (Basel, Switzerland)
2024

Synthesis and hLDHA Inhibitory Activity of New Stiripentol-Related Compounds of Potential Use in Primary Hyperoxaluria.

International journal of molecular sciences
2025

Biallelic Variant in the AGXT Gene in a Family Segregating Primary Hyperoxaluria; Accurate Genetic Diagnosis and Carrier Detection.

Nephrology (Carlton, Vic.)
2025

Joint proteomic and metabolomic analysis reveals renal metabolic remodeling of chronic heart failure mice.

Journal of pharmaceutical and biomedical analysis
2024

Comprehensive plasma metabolomics analysis of berberine treatment in ulcerative colitis rats by LC-MS/MS.

Frontiers in chemistry
2025

Plasma Levels of Organic Acids Associated with the Gut Microbiome Display Significant Alterations in Neuroendocrine Tumor Patients.

Neuroendocrinology
2025

Investigation 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
2024

[Serum metabolomics reveals effects of standard decoction and formula granules of Paeoniae Radix Rubra on rat model of heat toxin and blood stasis].

Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica
2024

Metabolomic disorders caused by an imbalance in the gut microbiota are associated with central precocious puberty.

Frontiers in endocrinology
2024

Glucose-Sensing ChREBP Protein in the Pathogenesis of Dia-betic Retinopathy.

bioRxiv : the preprint server for biology
2024

Based on network pharmacology, the mechanism of Dioscin in alleviating renal tubular epithelial cell injury induced by calcium oxalate crystals was explored.

Urolithiasis
2025

Therapeutic targets of antidiabetic drugs and kidney stones: A druggable mendelian randomization study and experimental study in rats.

European journal of pharmacology
2025

A New Perspective on Gas Chromatography-Mass Spectrometry Urinary Metabolomic Analysis and Efficient Risk Assessment of Urolithiasis: Morning Urine Organic Acid Profiles.

Kidney & blood pressure research
2024

Symmetric dimethylguanidino valeric acid, a novel single biomarker of hepatic steatosis.

iScience
2025

Effect of the allelic background on the phenotype of primary hyperoxaluria type I.

Current opinion in nephrology and hypertension
2024

Metabolic pathways from the gut metatranscriptome are associated with COPD and respiratory function in lung cancer patients.

Frontiers in cellular and infection microbiology
2025

The lack of trade-off between conformational stability and binding affinity in a nanobody with therapeutic potential for a misfolding disease.

International journal of biological macromolecules
2024

Serum metabolite profiles of thyroid autoimmunity patients in early pregnancy.

PeerJ
2024

Suppression of renal crystal formation, inflammation, and fibrosis by blocking oncostatin M receptor β signaling.

Scientific reports
2024

Polyphenol-enriched fraction from a Chinese herbal compound granule protects against D-galactose-induced apoptosis and metabolic disorders in PC12 cells.

American journal of translational research
2024

Distinct Hippocampal Expression Profiles of lncRNAs in Obese Type 2 Diabetes Mice Exhibiting Cognitive Impairment.

Neuromolecular medicine
2024

Puerarin alleviates apoptosis and inflammation in kidney stone cells via the PI3K/AKT pathway: Network pharmacology and experimental verification.

Journal of cellular and molecular medicine
2024

Kukoamine A alleviates nephrolithiasis by inhibiting endogenous oxalate synthesis via the IL-6/JAK/STAT3/DAO signaling pathway.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2024

SMYD2 Promotes Calcium Oxalate-Induced Glycolysis in Renal Tubular Epithelial Cells via PTEN Methylation.

Biomedicines
2024

Metabolomic Changes Associated with AGXT2 Genotype Variants and Stone Formation in a Colony of Cats.

Genes
2024

Impact of Acupuncture on Human Metabolomic Profiles: A Systematic Review.

Metabolites
2024

Bidirectional Impact of Varying Severity of Acute Kidney Injury on Calcium Oxalate Stone Formation.

Kidney & blood pressure research
2024

Cerebral net uptake of lactate contributes to neurological injury after experimental cardiac arrest in rabbits.

Scientific reports
2025

Lipopolysaccharide aggravating anaphylactoid reactions caused by traditional Chinese Medicine injections via p38/ERK/NF-κB signaling pathways.

Journal of ethnopharmacology
2024

Diet-induced hyperoxaluria: A case based mini-review.

Clinical nephrology. Case studies
2024

Selenium polysaccharide form sweet corn cob mediated hypoglycemic effects in vitro and untargeted metabolomics study on type 2 diabetes.

International journal of biological macromolecules
2025

Efficient 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 Therapy
2024

S100A9 promotes renal calcium oxalate stone formation via activating the TLR4-p38/MAPK-LCN2 signaling pathway.

International journal of biological macromolecules
2025

A Phase II Clinical Study on Apatinib Plus Vinorelbine in Refractory HER2-Negative Breast Cancer and its Metabolic Implications of Drug Resistance.

Current cancer drug targets
2024

Infant 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 sciences
2024

Deciphering metabolomics and lipidomics landscape in zebrafish hypertrophic cardiomyopathy model.

Scientific reports
2024

Effects of phosphorus-solubilizing bacteria and biochar application on phosphorus availability and tomato growth under phosphorus stress.

BMC biology
2024

Glyoxylate supplementation ameliorates colitis associated colon cancer progression.

Journal of cellular physiology
2024

Hair-straightening cosmetics containing glyoxylic acid induce crystalline nephropathy.

Kidney international
2024

Metabolomics studies in common multifactorial eye disorders: a review of biomarker discovery for age-related macular degeneration, glaucoma, diabetic retinopathy and myopia.

Frontiers in molecular biosciences
2025

Luminescence-based complementation assay to assess target engagement and cell permeability of glycolate oxidase (HAO1) inhibitors.

Biochimie
2024

Overview of Bovine Mastitis: Application of Metabolomics in Screening Its Predictive and Diagnostic Biomarkers.

Animals : an open access journal from MDPI
2024

The Evolving Role of Genetic Testing in Monogenic Kidney Stone Disease: Spotlight on Primary Hyperoxaluria.

The Journal of urology
2024

4-hydroxy-2-oxoglutarate metabolism in a mouse model of Primary Hyperoxaluria Type 3.

Biochemistry and biophysics reports
2024

Genome-wide association study and pathway analysis to decipher loci associated with Fusarium ear rot resistance in tropical maize germplasm.

Genetic resources and crop evolution
2024

Isocitrate 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 biology
2024

Oxalates: Dietary Oxalates and Kidney Inflammation: A Literature Review.

Integrative medicine (Encinitas, Calif.)
2024

LncRNA CRNDE promotes hepatoma cell proliferation by regulating the metabolic reprogramming of M2 macrophages via ERK pathway.

Cancer cell international
2024

Targeted and untargeted serum NMR metabolomics to reveal initial kidney disease in diabetes mellitus.

Journal of pharmaceutical and biomedical analysis
2024

The miR-23b-3p from adipose-derived stem cell exosomes alleviate inflammation in mice experiencing kainic acid-induced epileptic seizures.

Neuroreport
2024

Colorectal Cancer Detection via Metabolites and Machine Learning.

Current issues in molecular biology
2024

Live and pasteurized Akkermansia muciniphila ameliorates diabetic cognitive impairment by modulating gut microbiota and metabolites in db/db mice.

Experimental neurology
2024

Diagnosis and management of primary hyperoxalurias: best practices.

Pediatric nephrology (Berlin, Germany)
2024

Causality of Genetically Determined Metabolites on Chronic Kidney Disease: A Two-Sample Mendelian Randomization Study In Silico.

Metabolic syndrome and related disorders
2024

A pseudo-targeted metabolomics for discovery of potential biomarkers of cardiac hypertrophy in rats.

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences
2024

Nedosiran Safety and Efficacy in PH1: Interim Analysis of PHYOX3.

Kidney international reports
2024

Expanding the Genetic Spectrum of AGXT Gene Variants in Egyptian Patients with Primary Hyperoxaluria Type I.

Genetic testing and molecular biomarkers
2024

A molecular journey on the pathogenesis of primary hyperoxaluria.

Current opinion in nephrology and hypertension
2024

Restored glyoxylate metabolism after AGXT gene correction and direct reprogramming of primary hyperoxaluria type 1 fibroblasts.

iScience
2024

A multi-omics study reveals the therapeutic effect of Linderae Radix water extract on irritable bowel syndrome (IBS-D).

Journal of ethnopharmacology
2024

Identification of complex III, NQR, and SDH as primary bioenergetic enzymes during the stationary phase of Pseudomonas aeruginosa cultured in urine-like conditions.

Frontiers in microbiology
2024

Investigating D-Amino Acid Oxidase Expression and Interaction Network Analyses in Pathways Associated With Cellular Stress: Implications in the Biology of Aging.

Bioinformatics and biology insights
2024

The interactions and biological pathways among metabolomics products of patients with coronary heart disease.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
2024

Integrated multi-omics analysis reveals gut microbiota dysbiosis and systemic disturbance in major depressive disorder.

Psychiatry research
2024

Urinary metabolic profiles during Helicobacter pylori eradication in chronic gastritis.

World journal of clinical cases
2024

Deficient butyrate metabolism in the intestinal microbiome is a potential risk factor for recurrent kidney stone disease.

Urolithiasis
2024

Mrc1+ macrophage-derived IGF1 mitigates crystal nephropathy by promoting renal tubule cell proliferation via the AKT/Rb signaling pathway.

Theranostics
2024

Plasma metabolomic differences in early-onset compared to average-onset colorectal cancer.

Scientific reports
2024

Metabolomics and Biomarkers for Paroxysmal and Persistent Atrial Fibrillation.

Journal of the American Heart Association
2024

Late Presentation of Primary Oxalosis, Microcrystalline Arthropathy, and Tumoral Calcinosis: A Case Report and a Literature Review.

Current rheumatology reviews
2024

Insights into the pathogenesis of primary hyperoxaluria type I from the structural dynamics of alanine:glyoxylate aminotransferase variants.

FEBS letters
2024

Glycolate oxidase-1 gene variants influence the risk of hyperoxaluria and renal stone development.

World journal of urology
2024

Glyoxylate reductase: Definitive identification in human liver mitochondria, its importance for the compartment-specific detoxification of glyoxylate.

Journal of inherited metabolic disease
2024

CCR2 antagonist attenuates calcium oxalate-induced kidney oxidative stress and inflammation by regulating macrophage activation.

Experimental animals
2023

Downregulating miR-184 relieves calcium oxalate crystal-mediated renal cell damage via activating the Rap1 signaling pathway.

Aging
2024

In vivo base editing rescues primary hyperoxaluria type 1 in rats.

Kidney international
2024

The significance of persisters in tuberculosis drug discovery: Exploring the potential of targeting the glyoxylate shunt pathway.

European journal of medicinal chemistry
2023

Gene expression changes throughout the life cycle allow a bacterial plant pathogen to persist in diverse environmental habitats.

PLoS pathogens
2024

Significant alteration of protein profiles in a mouse model of polycystic ovary syndrome.

Molecular reproduction and development
2023

Alterations in gastric and gut microbiota following sleeve gastrectomy in high-fat diet-induced obese rats.

Scientific reports
2024

Platelet indices and angiogenesis markers in hypertensive disorders of pregnancy.

International journal of laboratory hematology
2023

Identification 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 reports
2023

Young Male With End-Stage Renal Disease Due to Primary Hyperoxaluria Type 2: A Rare Presentation.

Cureus
2023

STAT6 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.]
2023

TMT and PRM Based Quantitative Proteomics to Explore the Protective Role and Mechanism of Iristectorin B in Stroke.

International journal of molecular sciences
2023

Effect of Cordyceps militaris Powder Prophylactic Supplementation on Intestinal Mucosal Barrier Impairment and Microbiota-Metabolites Axis in DSS-Injured Mice.

Nutrients
2023

Lipidomics 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
2023

[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 diseases
2023

Proteomics and β-hydroxybutyrylation Modification Characterization in the Hearts of Naturally Senescent Mice.

Molecular & cellular proteomics : MCP
2023

Oxalate (dys)Metabolism: Person-to-Person Variability, Kidney and Cardiometabolic Toxicity.

Genes
2023

The glyoxylate shunt protein ICL-1 protects from mitochondrial superoxide stress through activation of the mitochondrial unfolded protein response.

Free radical biology & medicine
2023

Perturbations of Glutathione and Sphingosine Metabolites in Port Wine Birthmark Patient-Derived Induced Pluripotent Stem Cells.

Metabolites
2023

Clinical physiology and pharmacology of GSTZ1/MAAI.

Biochemical pharmacology
2024

VIRMA promotes neuron apoptosis via inducing m6A methylation of STK10 in spinal cord injury animal models.

CNS neuroscience & therapeutics
2023

Late Diagnosis of Primary Hyperoxaluria in an Adult Patient With End-Stage Renal Disease and Bicytopenia.

Cureus
2023

Melatonin alleviates intrarenal CaOx crystals deposition through inhibiting LPS-induced non-canonical inflammasome-mediated renal tubular epithelial cells pyroptosis.

International immunopharmacology
2023

Integrating proteomic data with metabolic modeling provides insight into key pathways of Bordetella pertussis biofilms.

Frontiers in microbiology
2023

Hydroxycitric acid prevents hyperoxaluric-induced nephrolithiasis and oxidative stress via activation of the Nrf2/Keap1 signaling pathway.

Cell cycle (Georgetown, Tex.)
2023

Metagenomic analysis of soybean endosphere microbiome to reveal signatures of microbes for health and disease.

Journal, genetic engineering & biotechnology
2023

A bacterial enzyme may correct 2-HG accumulation in human cancers.

Frontiers in oncology
2023

Arecoline aggravates acute ulcerative colitis in mice by affecting intestinal microbiota and serum metabolites.

Frontiers in immunology
2023

Inhibition of AT1R/IP3/IP3R-mediated Ca2+ release protects against calcium oxalate crystals-induced renal oxidative stress.

Chemico-biological interactions
2023

Serum and urine metabolomic biomarkers for predicting prognosis in patients with immunoglobulin A nephropathy.

Kidney research and clinical practice
2023

Defence-related metabolic changes in wheat (Triticum aestivum L.) seedlings in response to infection by Puccinia graminis f. sp. tritici.

Frontiers in plant science
2023

Diagnostic 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 nephrology
2023

Integrative Analysis of Proteome-wide Association Studies and Functional Enrichment Analysis to Identify Genes and Chemicals Associated with Alcohol Dependence.

Journal of addiction medicine
2022

Using a multi-omic approach to investigate the mechanism of 12-bis-THA activity against Burkholderia thailandensis.

Frontiers in microbiology
2023

Metabolome Profiling and Pathway Analysis in Metabolically Healthy and Unhealthy Obesity among Chinese Adolescents Aged 11-18 Years.

Metabolites
2023

Genetic loci of beta-aminoisobutyric acid are associated with aging-related mild cognitive impairment.

Translational psychiatry
2023

Glyoxylic Acid, an α-Keto Acid Metabolite Derived from Glycine, Promotes Myogenesis in C2C12 Cells.

Nutrients
2023

Untargeted metabolomics and lipidomics to assess plasma metabolite changes in dairy goats with subclinical hyperketonemia.

Journal of dairy science
2023

Microbiota alteration of Chinese young male adults with high-status negative cognitive processing bias.

Frontiers in microbiology
2023

ETNPPL modulates hyperinsulinemia-induced insulin resistance through the SIK1/ROS-mediated inactivation of the PI3K/AKT signaling pathway in hepatocytes.

Journal of cellular physiology
2023

Primary hyperoxaluria type 1 in children: clinical and laboratory manifestations and outcome.

Pediatric nephrology (Berlin, Germany)
2023

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 pathology
2023

Alterations in intestinal microbiota and metabolites in individuals with Down syndrome and their correlation with inflammation and behavior disorders in mice.

Frontiers in microbiology
2023

Quantitative 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 chemistry
2023

Therapeutic effect of Yiyi Fuzi Baijiang formula on TNBS-induced ulcerative colitis via metabolism and Th17/Treg cell balance.

Journal of ethnopharmacology
2022

Effects of electroacupuncture on urinary metabolome and microbiota in presenilin1/2 conditional double knockout mice.

Frontiers in microbiology
2023

Identification of AGXT2, SHMT1, and ACO2 as important biomarkers of acute kidney injury by WGCNA.

PloS one

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

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

  1. scResponse: A Rank-Based Method for Identifying Cell States That Contribute to Immunotherapy Response by Single-Cell Data.
    Advanced science (Weinheim, Baden-Wurttemberg, Germany)· 2026· PMID 41869876mais citado
  2. Impaired Acetyl-CoA Compartmentalization Drives a Futile Lipogenic-Oxidative Cycle in N88S Seipinopathy.
    Cells· 2026· PMID 41827830mais citado
  3. Luteolin prevents hyperoxaluria-induced renal injury by inhibiting crystal deposition and renal inflammation.
    The international journal of biochemistry & cell biology· 2026· PMID 41672398mais citado
  4. Genetic Correction of the Most Common Mutation Causing Primary Hyperoxaluria Restores Enzyme Localization and Oxalate Metabolism.
    Journal of inherited metabolic disease· 2026· PMID 41330733mais citado
  5. 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
  6. Targeted serum metabolomics reveals alterations in amino acid and neurotransmitter pathways in Parkinson's disease.
    Analyst· 2026· PMID 41700073recente
  7. Targeting Oxalate Production by Combining Enzyme Inhibition and Proteolysis Activation: A Novel Therapeutic Approach for Primary Hyperoxaluria Type 1.
    J Med Chem· 2026· PMID 41480893recente
  8. The Effect of Dietary Lemon Intake on Organic Acids in Morning Urine.
    Mol Nutr Food Res· 2026· PMID 41311163recente
  9. Bardoxolone methyl (Bard)-mediated strong suppression of calcium oxalate crystal formation in renal crystal recurrence model.
    Sci Rep· 2025· PMID 41310326recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:308998(Orphanet)
  2. MONDO:0017703(MONDO)
  3. GARD:21312(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. 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.

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Alteração do metabolismo do glioxilato

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