Desequilíbrio ácido-básico ou desbalance ácido-base é um transtorno fisiológico sistêmico geralmente causado por problemas respiratórios, renais ou hepáticos.
Introdução
O que você precisa saber de cara
Doença rara do metabolismo da glutamina, associada a mutações nos genes GLS ou GLUL, manifesta-se com convulsões, hipotonia, insuficiência respiratória e alterações neurológicas como encefalopatia epiléptica e desmielinização do SNC.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 14 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 36 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
2 genes identificados com associação a esta condição.
Catalyzes the first reaction in the primary pathway for the renal catabolism of glutamine. Plays a role in maintaining acid-base homeostasis. Regulates the levels of the neurotransmitter glutamate, the main excitatory neurotransmitter in the brain (PubMed:30239721, PubMed:30575854, PubMed:30970188) Lacks catalytic activity
MitochondrionCytoplasm, cytosolMitochondrion matrix
Developmental and epileptic encephalopathy 71
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE71 is an autosomal recessive form with onset at birth. Death occurs in first weeks of life.
Glutamine synthetase that catalyzes the ATP-dependent conversion of glutamate and ammonia to glutamine (PubMed:16267323, PubMed:30158707, PubMed:36289327). Its role depends on tissue localization: in the brain, it regulates the levels of toxic ammonia and converts neurotoxic glutamate to harmless glutamine, whereas in the liver, it is one of the enzymes responsible for the removal of ammonia (By similarity). Plays a key role in ammonium detoxification during erythropoiesis: the glutamine synthet
Cytoplasm, cytosolMicrosomeMitochondrionCell membrane
Glutamine deficiency, congenital
An autosomal recessive disorder characterized by variable brain malformations, encephalopathy, severe developmental delay, seizures, and decreased glutamine levels in bodily fluids. Death in early infancy may occur.
Variantes genéticas (ClinVar)
125 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
4 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 da glutamina
Centros de Referência SUS
21 centros habilitados pelo SUS para Doença do metabolismo da glutamina
Centros para Doença do metabolismo da glutamina
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
AKT1 phosphorylates PRMT7 to promote GLUD1 methylation and gastric cancer progression.
Glutamine metabolism has emerged as an essential metabolic driver of tumor progression. Glutamate dehydrogenase 1 (GLUD1), a key enzyme in glutaminolysis, is frequently overexpressed in malignancies. Post-translational modifications (PTMs) are crucial for regulating protein function and tumor progression. However, the PTMs of GLUD1, particularly arginine methylation, remain unexplored. Here we report that protein arginine methyltransferase 7 (PRMT7) mediates monomethylation of GLUD1 at arginine 76 (R76), enhancing its protein stability by antagonizing ubiquitin-dependent degradation. Moreover, high glucose destabilizes GLUD1 via the PI3K/Akt pathway. Mechanistically, AKT1 phosphorylates PRMT7 at threonine 73 (T73) and promotes its activity to stabilize GLUD1 by increasing its methylation and reducing ubiquitination. Clinical analysis reveals that elevated GLUD1, PRMT7, and meGLUD1(R76) levels correlate with tumor progression in gastric cancer. In xenograft models, PRMT7 inhibitor SGC3027 combined with chemotherapeutic drugs docetaxel (DTX) synergistically suppresses tumor growth. Collectively, this study identifies the AKT1-PRMT7-GLUD1 axis as a key regulatory pathway in gastric cancer, and highlights its potential as a therapeutic target.
Tissue and CD4 T cell subset dependence on the amino acid transporter SLC38A1.
Amino acid (AA) uptake is essential for T cell metabolism and function, but how tissue sites and inflammation affect CD4+ T cell subset requirements for specific AAs remains uncertain. Here, we tested CD4+ T cell AA demands with in vitro and in vivo CRISPR screens and identified subset- and tissue-specific dependencies on the AA transporter SLC38A1 (SNAT1). While dispensable for T cell persistence and expansion in vivo in lung inflammation, SLC38A1 was critical for Th1, but not Th17, cell-driven experimental autoimmune encephalomyelitis (EAE) and contributed to Th1 cell-driven inflammatory bowel disease. SLC38A1 deficiency reduced mTORC1 signaling and glycolytic activity in Th1 cells, in part by reducing glutamine uptake and disrupting hexosamine biosynthesis and redox regulation. Pharmacological inhibition of SLC38 transporters also delayed Th1-mediated EAE but did not affect lung inflammation. CD4+ T cells thus have subset- and tissue-specific nutrient transporter dependencies that may guide new metabolic approaches for selective immunotherapies.
From metabolism to mood regulation: astrocytes as a driver of depression.
Astrocytes are increasingly recognized as active regulators of mood and cognition, extending far beyond their classical supportive roles. In major depressive disorder, converging evidence from postmortem analyses, magnetic resonance spectroscopy (MRS), and animal stress models points toward the possibility of astrocytic abnormalities, including reduced density, impaired glutamate-glutamine cycling, and altered mitochondrial function. However, the causal contribution of these alterations remains insufficiently defined. This review aims to summarize experimental studies employing both loss- and gain-of-function approaches to directly probe the involvement of astrocytes in depression. We first introduce which inhibited astrocytic functions induce depressive-like behaviors, and then explore how enhancing these astrocytic functions-through overexpression and pharmacological manipulation methods-rescues stress-induced depression phenotypes. We further connect astrocyte alterations with circuit-level dysfunctions and behavioral outcomes, such as impaired prefrontal-amygdala regulation and reduced mesolimbic reward responses. Finally, we discuss therapeutic opportunities including astrocyte-targeting pharmacological strategies and MRS-based biomarkers. By integrating mechanistic evidence with translational perspectives, this review positions astrocyte metabolism as a promising frontier for antidepressant development.
The cross-linking activity of transglutaminase 2 drives α-Synuclein pathology in synucleinopathy models.
Transglutaminase 2 (TG2) is implicated in synucleinopathies including Parkinson's disease (PD) and dementia with Lewy bodies, as it promotes α-Synuclein (α-Syn) aggregation in vitro, and evidence for its activity is detected in Lewy bodies in human postmortem brains. Additionally, TG2 overexpression exacerbates α-Syn toxicity in double transgenic mice, while TG2 deletion mitigates the phenotype of α-Syn transgenic mice. Considering that TG2 is a multidomain and multifunctional protein, the present study was carried out to confirm that the transamidase activity of TG2 specifically drives its pathogenetic role in synucleinopathies. We generated transgenic mice expressing a catalytically inactive W241A mutant TG2 and compared them with TG2-overexpressing and TG2 knockout mice using the α-Syn preformed fibril (PFF) model. We also examined double transgenic mice coexpressing human α-Syn with either wild-type TG2 or mutant TG2, alongside α-Syn single transgenic controls. 6 mo post-PFF injection, or at 6 mo of age in the double transgenic lines, the exacerbation of the behavioral and neuropathological phenotype seen with TG2 overexpression was lost with mutant TG2 overexpression in both models. Parallel findings were replicated in PD patient induced pluripotent stem cell-derived dopaminergic neurons. These findings indicate that the cross-linking activity of TG2 plays a pivotal role in α-Syn aggregation and toxicity, underscoring its significance as a therapeutic target in synucleinopathies.
Circulating gut microbial metabolites and risk of coronary heart disease: A prospective multi-stage metabolomics study.
Despite growing evidence linking gut microbiota and microbial metabolites to human cardiometabolic health, few studies have systematically examined associations between circulating microbial metabolites and incident coronary heart disease (CHD). We conducted a multi-stage metabolomics study involving five prospective cohorts. Discovery involved untargeted plasma metabolite profiling of 896 incident cases and 896 age-/sex-/race-matched controls (~300 pairs per race: Black, White, Asian) from the Southern Community Cohort Study (SCCS; baseline: 2002-2009) and the Shanghai Women's Health Study and Shanghai Men's Health Study (SWHS/SMHS; baseline: 1996-2000 and 2002-2006). In-silico validation was conducted in the Atherosclerosis Risk in Communities Study (ARIC; N = 3,539; 663 cases; baseline: 1987-1989) and Multi-Ethnic Study of Atherosclerosis (MESA; N = 3,860; 446 cases; baseline: 2000-2002). Lastly, a quantitative assay was developed and applied to a new set of 864 cases and 864 age-/sex-/race-matched controls (~260-340 pairs per race) from the SCCS and SWHS/SMHS. Conditional logistic regression estimated odds ratios (ORs) of incident CHD per standard deviation (SD) metabolite increase in discovery and quantitative stages with a nested case-control design. Cox regression was used in ARIC and MESA with a cohort design. Similar covariates were adjusted across stages, including age, sex (if applicable), race (if applicable), education, income, smoking status, alcohol consumption, physical activity, diet quality, and body mass index (BMI). The mean (SD) time between enrollment and CHD diagnosis was 5.6 (3.8), 6.9 (4.4), 15.0 (7.4), and 8.0 (4.9) years in the SCCS, SWHS/SMHS, ARIC, and MESA, respectively. The discovery stage identified 73 circulating microbiota-related metabolites associated with incident CHD (false discovery rate <0.10). Sixty-one metabolites were available for in-silico validation, of which 24 showed a significant association (p < 0.05) in the same direction as in the discovery. The targeted assay quantified eight of the 24 metabolites, with five significantly associated with incident CHD: imidazole propionate, 3-hydroxy-2-ethylpropionate, 4-hydroxyphenylacetate, trans-4-hydroxyproline, and 3-hydroxybutyrate; OR per SD ranged from 1.18 to 1.27 after adjustment for sociodemographics, lifestyles, and BMI. The targeted assay measured eight other promising microbial metabolites, four of which were significant: trimethylamine N-oxide, phenylacetyl-L-glutamine, 4-hydroxyhippuric acid, and indolepropionate. Most associations were consistent across participant subgroups by demographics, lifestyles, metabolic disease history, family CHD history, and follow-up time, although some potential effect modifications were found by race, age, obesity status, and follow-up time. The main limitations of the study are the observational design and the inability to validate all significant metabolites due to differences in metabolomic assay coverage across the three stages. We identified and validated circulating gut microbial metabolites associated with incident CHD across diverse populations. Our findings offer novel epidemiological evidence on the importance of gut microbial metabolism in CHD development and highlight specific metabolites to prioritize for mechanistic investigation, biomarker validation, and therapeutic development.
Publicações recentes
Glutaminase 1 in Vascular Disease: Linking Metabolic Reprogramming to Atherosclerosis Progression and Stability.
ALG8-Driven Metabolic Reprogramming in Polycystic Kidney Disease: A Systematic Synthesis of Evidence Linking Glycosylation Defects to Metabolic Signaling.
α-Ketoglutarate protects against cartilage damage via epigenetically driven metabolic reprogramming in osteoarthritis models.
Phenylacetylglutamine is associated with diabetic retinopathy via transgelin-mediated ferroptosis in hyperglycemic retinal epithelial cells.
Neonatal Hyperoxia Induces Metabolic Reprogramming in Senescent Alveolar Macrophages, Leading to Persistent Lung Injury.
📚 EuropePMCmostrando 200
Integrated multi-omics analysis unveils microbiota-metabolite-host interactions and novel biomarkers for early diabetic kidney disease diagnosis.
Frontiers in immunologyAKT1 phosphorylates PRMT7 to promote GLUD1 methylation and gastric cancer progression.
Cell death & diseaseTissue and CD4 T cell subset dependence on the amino acid transporter SLC38A1.
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Journal of cardiovascular translational researchGlutaminase deficiency provides insight to the role of glutamine accumulation and neurotoxicity.
Molecular genetics and metabolismΑ-Ketoglutarate ameliorates appendicitis by modulating Gln metabolism and inhibiting NF - κB signaling pathway.
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Applied microbiology and biotechnologyTransglutaminase 2 activation is involved in thoracic aortic dissection through disruption of endothelial adherens junctions.
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Proceedings of the National Academy of Sciences of the United States of AmericaMetabolic vulnerabilities in ovarian cancer decoding the nexus between nutrient adaptation and therapy resistance.
Journal of advanced researchMetabolic reprogramming during human neuron differentiation indicates glutaminase as a key determinant in Fragile X syndrome.
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American journal of medical genetics. Part APersistent DNA methylation and down-regulation of homeostatic genes in astrocytes after pilocarpine-induced status epilepticus: implications for epileptogenesis.
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Journal of chromatography. B, Analytical technologies in the biomedical and life sciencesSerology-based diagnosis of coeliac disease in secondary care: a single-centre study in Norway.
Scandinavian journal of gastroenterologyInvestigating the molecular mechanisms of glutamine metabolism and mitochondria-related biomarkers in Alzheimer's disease through transcriptomics and experimental validation.
European journal of medical researchMulti-organ metabolic dysregulation and cecal microbiota alterations following black carbon exposure.
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International immunopharmacologyMulti-biofluid metabolomics coupled with gene network reveals stage-specific alterations in mild cognitive impairment and Alzheimer's disease in an ethnically mixed cohort.
Brain researchThe Association Between Amino Acids and the Onset and Progression of Type 2 Diabetes Mellitus: A Comprehensive Analysis Based on UK Biobank Database.
Journal of diabetes researchElevated neurotransmitter levels in people with HIV are associated with attention function.
Neurobiology of diseaseAmpelopsin preserves glutamate homeostasis against cerebral ischemia.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieGas chromatography-mass spectrometry-based plasma metabolomics analysis in hypertensive patients with Yin deficiency and Yang hyperactivity syndrome.
World journal of experimental medicineMitochondrial proteomics reveals reductive metabolism dependent on glutamine in fibroblasts of idiopathic pulmonary fibrosis under hypoxia.
Scientific reportsDynamic Behavioral and Molecular Changes Induced by Chronic Restraint Stress Exposure in Mice.
International journal of molecular sciencesToF-SIMS Reveals Metformin-Driven Restoration of Hepatic Lipid and Amino Acid Profiles in a Type 2 Diabetes Rat Model.
International journal of molecular sciencesTargeting the Glutaminolysis Pathway in Glaucoma-Associated Fibrosis.
International journal of molecular sciencesAmino acid metabolic reprogramming: future prospects for cholangiocarcinoma therapy.
Cell death discoveryGlucose exposure suppresses brain aromatase and impairs retinal regeneration in zebrafish.
Experimental eye researchUnbiased metabolomics screening for potential biomarkers in patients with In-stent restenosis post percutaneous coronary intervention.
Scandinavian cardiovascular journal : SCJAmino acid metabolism modulates chronic kidney disease progression by mediating the aging process: Mechanistic insights and therapeutic interventions.
Diabetes, obesity & metabolismUltramicronized palmitoylethanolamide restores astrocyte-neuron metabolic coupling and Klotho/FGF21 signaling in a triple-transgenic mouse model of Alzheimer's disease.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieUntargeted Serum Metabolomics Reveals Differential Signatures in Gallstone-Associated and Gallstone-Free Gallbladder Cancer Variants.
Journal of proteome researchFOXM1/FUS facilitates triple-negative breast cancer malignant progression and glutamine metabolism through mediating SLC7A5 transcription.
Journal of molecular histologyPitolisant Inhibits Alcohol Drinking and Improves Withdrawal Negative Affect Through Lateral Habenula Histaminergic Signaling in Mice.
CNS neuroscience & therapeuticsIntegrated omics-based analysis reveals distinct microbial-metabolite interaction networks in eosinophilic and non-eosinophilic chronic rhinosinusitis with nasal polyps in a Chinese population.
RhinologyFatigue in major depression is linked to depression severity, not sleep duration or anterior cingulate cortex neurochemistry.
Journal of affective disordersAdvances in understanding, diagnosing, and treating hepatic encephalopathy: from epidemiology to emerging therapies.
Naunyn-Schmiedeberg's archives of pharmacologyProgrammed cell death pathways in huntington's disease: spotlight on ferroptosis and pyroptosis.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyNickel refining fumes activate glutamine metabolism via the HIF-1α/Notch pathway to drive epithelial-mesenchymal transition in Beas-2B cells.
ToxicologyGlutamine metabolites promote the progression of cervical cancer by inducing M2 macrophage polarization.
Pathology, research and practiceDetermination of N-Lactoyl-phenylalanine, phenylacetylglutamine and trimethylamine-N-oxide related metabolites in hypertensive patients by liquid chromatography-mass spectrometry and the application to blood pressure regulation.
Journal of pharmaceutical and biomedical analysisSustained hippocampal neuroinflammation and subsequent glutamatergic dysfunction in juvenile idiopathic arthritis: evidence from proton magnetic resonance spectroscopy (1H-MRS).
Arthritis research & therapyThe metabolomic profile of psoriatic arthritis patients unveils the unbalance of disease-related molecules and pathways.
Scientific reportsIntegrative Single-Cell and Machine Learning Analysis Develops a Glutamine Metabolism-Based Prognostic Model and Identifies MSMO1 as a Therapeutic Target in Osteosarcoma.
BiomoleculesBiomimetic Liposome Coloaded ES-Cu and PFK15 Amplify Cuproptosis through Inhibition of Glycolysis in Fibroblast-Like Synoviocytes for Rheumatoid Arthritis Therapy.
ACS applied materials & interfacesTransglutaminase-2 Promotes Microglial Synaptic Phagocytosis and Ameliorates Epileptic Seizures by Inhibiting ABCA1 Ubiquitination.
CNS neuroscience & therapeuticsElevated brain glutamine levels in adults with autism spectrum disorder: A 7T MRS study.
Molecular psychiatryAssociation between mental health and MASLD molecular insights through metabolomics.
Communications medicineIntegrated Multi-omics Analysis of Hub Genes and miRNA Interactions in Hypertrophic Cardiomyopathy.
Current genomicsMetabolic Reprogramming of Adaptive Immunity Induced by Viral Infections.
ImmunologyMulti-omics dissection of SNP-mediated immunometabolic signatures in Alzheimer's disease reveals a novel individual predictive model.
NPJ digital medicineA Predictive Model of Duodenal Atrophy in Adults With Celiac Disease: Could Diagnostic Endoscopy Be Avoided?
Journal of clinical gastroenterologyMetabolic Astrocytic Support with Decanoic Acid Enhances Energy Metabolism in Alzheimer's Disease Models.
CellsInterplay Between Glutamine Metabolism and Other Cellular Pathways: A Promising Hub in the Treatment of HNSCC.
CellsSLC38A3 deficiency reveals a critical role of blood-derived glutamine in brain development.
Brain : a journal of neurologyNEDD4 suppresses ferroptosis in lung ischemia-reperfusion injury by ubiquitinating and degrading SLC1A5.
Scientific reportsDifferences of respiratory tract flora and metabonomic characteristics of lung lavage fluid in pneumoconiosis model rats.
Scientific reportsEvaluation of GABAergic and Glutamatergic Levels in the Dorsal Anterior Cingulate Cortex of Patients With Bipolar Disorder: A Cross-Sectional 1H-MRS Study.
Neuropsychopharmacology reportsMetabolomic Markers and Pathways of Blood-Brain Barrier Damage: A Systematic Review.
Comprehensive PhysiologyMultifaceted roles of HDAC7 in disease and the evolving chemical toolkit for its modulation.
Bioorganic & medicinal chemistry lettersPolyacrylic acid, but not polyethylene glycol, induces metabolic reprogramming linked to pulmonary fibrosis in rats.
Scientific reportsRole of Qrich1-mediated endoplasmic reticulum stress pathway in Berberine inhibition of NF-κB activation induced by cerebral ischemia-reperfusion injury.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke AssociationThe transaminase-ω-amidase pathway senses oxidative stress to control glutamine metabolism and α-ketoglutarate levels in endothelial cells.
The EMBO journalExploring the role of GLS1 in colorectal cancer progression through the glutamine metabolism-PI3K signaling-autophagy axis.
International journal of surgery (London, England)Celastrol delays the progression of hepatocellular carcinoma by suppressing SLC1A5-mediated glutamine dependence.
Toxicology and applied pharmacologyCleavage of cellular substrate porcine gasdermin D by porcine torovirus 3C-like protease induces pyroptosis.
VirulenceCausal effects of glutamine and lipid-related metabolites on alopecia areata: A 2-sample Mendelian randomization study.
MedicineDevelopment of a glutamine-responsive MRI contrast agent.
Chemical scienceMicrobiota-sphingolipid pathway in generalized epilepsy: evidence from Mendelian randomization and clinical metabolomics.
Frontiers in microbiologyIntegrated multi-omics analysis of renal metabolism in domestic cats with spontaneous chronic kidney disease.
Communications biologyAmmonia reduces glutamine synthetase expression in astrocytes via activation of Hippo-YAP signaling pathways.
Communications biologyGlutamine: fructose-6-phosphate amidotransferase (GFAT) in the pathology of diseases: a review.
Cell death discoveryIdentification of the function of the metabolite repair enzyme Nit1: the story of a collaboration with Arthur Cooper.
Analytical biochemistryDiazepam modulates anterior cingulate glutamate levels in people at clinical high-risk for psychosis.
The international journal of neuropsychopharmacologyElucidating time-resolved intracellular metabolic dynamics via label-free Raman microspectroscopy and 2D correlation spectroscopy.
The AnalystEffects of Chronic Moderate Alcohol Intake on Metabolic Phenotypes and Gut Microbiota in Lean and Obese Mice with Distinct Dietary Structures.
NutrientsAccessing Altered Metabolic Profile in Acute Deep Vein Thrombosis Through Nuclear Magnetic Resonance Spectroscopy.
International journal of molecular sciencesNADPH Oxidase 4 and Metabolic Stress in Dahl Salt-Sensitive Rat Kidneys.
Hypertension (Dallas, Tex. : 1979)The astrocytic engine: Na+,K+-ATPase at the nexus of brain function and malfunction.
American journal of physiology. Cell physiologyMultiomics analysis of neutrophils in SLE: insights from adult and paediatric disease.
Clinical and experimental immunologyA Remote-Controlled Nanopump Delivers Oxygen to Boost Energy Production in Osteoarthritis.
ACS nanoHigh matrix stiffness triggers the YAP-OPA1-TET1/3 loop to drive chemoresistance via enhanced nuclear-mitochondrial communication.
iScienceSkin manifestations in individuals with undiagnosed celiac seropositivity: a cross-sectional study.
Scandinavian journal of gastroenterologyPromoter demethylation and protein O-GlcNAcylation-mediated enhancement of fatty acid synthase contributes to hepatic steatosis and inflammation in MASLD.
The Journal of nutritional biochemistryNeurometabolic signatures of gastrointestinal symptoms in the insula of Crohn's disease patients: explorative findings from a 7T MRS study.
Frontiers in human neuroscienceThree mammalian VDAC isoforms distinctly regulate mitochondrial function and proteome to maintain cell metabolism.
The Journal of biological chemistryInfection with Helicobacter pylori and the age at onset of coeliac disease in the "HUNT4" survey.
BMC research notesPathway coessentiality mapping reveals complex II is required for de novo purine biosynthesis in acute myeloid leukaemia.
Nature metabolismUse of non-bound proteinogenic amino acids to modulate the growth of pathogenic bacteria from broiler chickens.
Poultry sciencePhosphodiesterase-4 Inhibition: An Experimental Approach to Overcome Drug Resistance in a Rotenone-Corneal 6 Hz Kindling Mouse Model of Drug-Resistant Epilepsy.
Molecular neurobiologyAltered biopterin-related cofactor metabolism in the aqueous humor of glaucoma patients.
Experimental eye researchSLBP promotes lung adenocarcinoma progression by inhibiting ferroptosis and reprogramming glutamine metabolism via FADS2 interaction.
Experimental cell researchPlasma amino acid profile in obese children, adolescents, and adults: similarities or differences - a narrative review.
Endokrynologia PolskaAlterations in short-chain fatty acid-associated gut microbiota and tight junction integrity in adolescent major depressive disorder.
Translational psychiatryFecal metabolomics in Crohn's disease reveal N-Acetylglutamine as a Th17/Treg modulator.
Molecular immunologyIndoxyl sulfate promoted glutamine metabolism and cell proliferation in urothelial carcinoma involving Runx2.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieIn Vivo Glx Measurements From GABA-Edited HERMES at 3 T Are Not Consistent With Those From Short-TE PRESS Across Scanners, Brain Regions, Diagnostic and Age Groups.
NMR in biomedicineRole of metabolites in mediating the effect of gut microbiota on Crohn disease: A two-step Mendelian randomization (MR) study.
MedicineIntegrative bioinformatics and machine learning approach unveils potential biomarkers linking coronary atherosclerosis and glutamine metabolism-associated gene.
Journal of cardiothoracic surgeryGrowth hormone-releasing peptide 6 (GHRP-6) hydrogel for acute kidney injury therapy via metabolic regulation.
Journal of nanobiotechnologyThe Glutamine Metabolic Switch Influences the Response of Neonatal Intestinal Macrophages to Breast Milk.
Cellular and molecular gastroenterology and hepatologyDiagnostic Evaluation of Seronegative Celiac Disease.
Archives of medical researchClosing the evidence loop-membrane-lipid homeostasis and vesicular transport link DEHP exposure to endometriosis.
Human genomicsPotential glutamine metabolism-related biomarkers were identified in osteoarthritis by bioinformatics.
Scientific reportsThe effect of alpha lipoic acid and caffeine loaded into chitosan nanoparticles on the hypothalamic amino acid neurotransmitters in a rat model of obesity.
Scientific reportsConditional deletion of glutaminase 1 in Tnfrsf11a-expressing cells reduces bone mass and induces postnatal growth retardation in mice.
Biochemical and biophysical research communicationsThe role of continued immunoglobulin A monitoring in celiac disease management.
Journal of pediatric gastroenterology and nutritionGut Microbiotas, Plasma Metabolites, and Autism Spectrum Disorder: A Bidirectional Mendelian Randomization Analysis.
Pathogens (Basel, Switzerland)Metabolomics Signatures of Atherosclerosis in Cardiovascular Disease: A Narrative Systematic Review.
Journal of clinical medicineCerebrospinal Fluid Neurotransmitters, Pterins, Folates and Amino Acids in Paediatric Onset Epilepsies: A Tertiary Centre Retrospective Cohort Study.
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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.
- AKT1 phosphorylates PRMT7 to promote GLUD1 methylation and gastric cancer progression.
- Tissue and CD4 T cell subset dependence on the amino acid transporter SLC38A1.
- From metabolism to mood regulation: astrocytes as a driver of depression.
- The cross-linking activity of transglutaminase 2 drives α-Synuclein pathology in synucleinopathy models.Proceedings of the National Academy of Sciences of the United States of America· 2026· PMID 41855257mais citado
- Circulating gut microbial metabolites and risk of coronary heart disease: A prospective multi-stage metabolomics study.
- Glutaminase 1 in Vascular Disease: Linking Metabolic Reprogramming to Atherosclerosis Progression and Stability.
- ALG8-Driven Metabolic Reprogramming in Polycystic Kidney Disease: A Systematic Synthesis of Evidence Linking Glycosylation Defects to Metabolic Signaling.
- α-Ketoglutarate protects against cartilage damage via epigenetically driven metabolic reprogramming in osteoarthritis models.
- Phenylacetylglutamine is associated with diabetic retinopathy via transgelin-mediated ferroptosis in hyperglycemic retinal epithelial cells.
- Neonatal Hyperoxia Induces Metabolic Reprogramming in Senescent Alveolar Macrophages, Leading to Persistent Lung Injury.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:289841(Orphanet)
- MONDO:0017352(MONDO)
- GARD:21156(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55787003(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
