Raras
Buscar doenças, sintomas, genes...
Doença do metabolismo da glutamina
ORPHA:289841DOENÇA RARA

Desequilíbrio ácido-básico ou desbalance ácido-base é um transtorno fisiológico sistêmico geralmente causado por problemas respiratórios, renais ou hepáticos.

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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.

🏥
SUS: Cobertura mínimaScore: 20%
Centros em: SP, PR, SC, RS, ES +8
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Sinais e sintomas

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

Partes do corpo afetadas

🧠
Neurológico
7 sintomas
🫁
Pulmão
6 sintomas
😀
Face
3 sintomas
🦴
Ossos e articulações
2 sintomas
❤️
Coração
1 sintomas
💪
Músculos
1 sintomas

+ 14 sintomas em outras categorias

Características mais comuns

Convulsão
Respiração de Cheyne-Stokes
Hipotonia
Padrão giratório simplificado
Insuficiência respiratória
Insuficiência respiratória
36sintomas
Sem dados (36)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 36 características clínicas mais associadas, ordenadas por frequência.

ConvulsãoSeizure
Respiração de Cheyne-StokesCheyne-Stokes respiration
HipotoniaHypotonia
Padrão giratório simplificadoSimplified gyral pattern
Insuficiência respiratóriaRespiratory failure

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1
Últimos 10 anos200publicações
Pico2026149 papers
Linha do tempo
2025Hoje · 2026🧪 2004Primeiro ensaio clínico
Publicações por ano (últimos 10 anos)

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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.

GLSGlutaminase kidney isoform, mitochondrialDisease-causing germline mutation(s) inRestrito
FUNÇÃO

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

LOCALIZAÇÃO

MitochondrionCytoplasm, cytosolMitochondrion matrix

VIAS BIOLÓGICAS (3)
Glutamate and glutamine metabolismGlutamate Neurotransmitter Release CycleTP53 Regulates Metabolic Genes
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Aorta
108.5 TPM
Cérebro - Hemisfério cerebelar
92.8 TPM
Linfócitos
90.6 TPM
Artéria tibial
88.3 TPM
Brain Frontal Cortex BA9
76.9 TPM
OUTRAS DOENÇAS (4)
global developmental delay, progressive ataxia, and elevated glutaminedevelopmental and epileptic encephalopathy, 71infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual developmentspastic ataxia-dysarthria due to glutaminase deficiency
HGNC:4331UniProt:O94925
GLULGlutamine synthetaseDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Cytoplasm, cytosolMicrosomeMitochondrionCell membrane

VIAS BIOLÓGICAS (2)
Glutamate and glutamine metabolismAstrocytic Glutamate-Glutamine Uptake And Metabolism
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Nervo tibial
1170.8 TPM
Adipose Visceral Omentum
590.0 TPM
Músculo esquelético
581.5 TPM
Estômago
539.0 TPM
Tecido adiposo
536.5 TPM
OUTRAS DOENÇAS (2)
developmental and epileptic encephalopathy 116congenital brain dysgenesis due to glutamine synthetase deficiency
HGNC:4341UniProt:P15104

Variantes genéticas (ClinVar)

125 variantes patogênicas registradas no ClinVar.

🧬 GLUL: NM_001033044.4(GLUL):c.892C>T (p.Arg298Ter) ()
🧬 GLUL: GRCh37/hg19 1q25.3-32.1(chr1:180800361-203181850)x3 ()
🧬 GLUL: GRCh37/hg19 1q21.1-44(chr1:143932350-249224684)x3 ()
🧬 GLUL: NM_001033044.4(GLUL):c.508G>T (p.Ala170Ser) ()
🧬 GLUL: NM_001033044.4(GLUL):c.896G>T (p.Arg299Leu) ()
Ver todas no ClinVar

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.
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Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 5 ensaios
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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

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.

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Ensaios clínicos abertos e novidades científicas recentes

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Outros ensaios clínicos

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Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

AKT1 phosphorylates PRMT7 to promote GLUD1 methylation and gastric cancer progression.

Cell death & disease2026 Mar 24

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.

#2

Tissue and CD4 T cell subset dependence on the amino acid transporter SLC38A1.

Cell metabolism2026 Mar 23

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.

#3

From metabolism to mood regulation: astrocytes as a driver of depression.

Frontiers in cellular neuroscience2026

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.

#4

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 America2026 Mar 24

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.

#5

Circulating gut microbial metabolites and risk of coronary heart disease: A prospective multi-stage metabolomics study.

PLoS medicine2026 Mar

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.

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Integrated multi-omics analysis unveils microbiota-metabolite-host interactions and novel biomarkers for early diabetic kidney disease diagnosis.

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AKT1 phosphorylates PRMT7 to promote GLUD1 methylation and gastric cancer progression.

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Tissue and CD4 T cell subset dependence on the amino acid transporter SLC38A1.

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The Gut Metabolite Phenylacetylglutamine Inhibits the Angiogenic Potential of Human Umbilical Vein Endothelial Cells Via the β-Adrenergic Receptor-LDHA Axis.

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From metabolism to mood regulation: astrocytes as a driver of depression.

Frontiers in cellular neuroscience
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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
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Expanded stoichiometric model of chondrocyte metabolism: response to cyclical shear and compressive loading.

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Comparative 1H NMR Lipoprotein Profiling of Rheumatoid Arthritis and Systemic Lupus Erythematosus Patients Highlights Disease-Specific Lipoprotein Dysregulation.

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Circulating gut microbial metabolites and risk of coronary heart disease: A prospective multi-stage metabolomics study.

PLoS medicine
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Metabolic-based therapeutic strategies to treat Huntington's disease.

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The Impact of Motor Symptom Asymmetry on the Relationship Between Non-Motor Manifestations and Neurometabolic Profiles in Parkinson's Disease.

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Effects of in vitro fermentation of Astragalus polysaccharide on gut microbiota and neurotransmitter metabolites in patients with major depressive disorder.

Frontiers in psychiatry
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Unravelling Structural and Metabolic Alterations in the Hippocampus and Anterior Cingulate Cortex Using Integrated MRI and MRS in Major Depressive Disorder.

NMR in biomedicine
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Glutaminase 1 in Vascular Disease: Linking Metabolic Reprogramming to Atherosclerosis Progression and Stability.

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Glutamine antagonist DON attenuates chikungunya virus-induced myositis by suppressing inflammatory activation in a murine model.

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Acta neuropsychiatrica
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TGM2-mediated serotonylation in tumor endothelial cells promotes angiogenesis and tumor growth in colorectal cancer.

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ALG8-Driven Metabolic Reprogramming in Polycystic Kidney Disease: A Systematic Synthesis of Evidence Linking Glycosylation Defects to Metabolic Signaling.

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Modulatory Effect of Natural Antioxidants on Tissue Transglutaminase Levels in Olfactory Ensheathing Cells Exposed to Amyloid-β: Integrated Biochemical and Computational Analysis.

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OXCT1-induced succinylation at K81 shields HADH from HSPA8-Mediated degradation in alveolar epithelial cells to attenuate lung ischemia-reperfusion injury.

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α-Ketoglutarate protects against cartilage damage via epigenetically driven metabolic reprogramming in osteoarthritis models.

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Phenylacetylglutamine is associated with diabetic retinopathy via transgelin-mediated ferroptosis in hyperglycemic retinal epithelial cells.

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Changes in the cortical GABAergic inhibitory system in a Spinal Muscular Atrophy mouse model.

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Plasma neurotransmitter-related metabolite alterations in adolescent major depressive disorder with and without psychotic features.

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Lower serum threonine and glutamine levels could be a predictor for multiple sclerosis in pregnancy.

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Serum GFAP and NfL augment a metabolomics-driven strategy for long-term prediction of multiple sclerosis progression.

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Scientific reports
2026

ASCT2 palmitoylation regulated by JNK1-ZDHHC14 axis orchestrates glutamine metabolism and NSCLC progression.

Cell discovery
2026

Sanhua essential oil exerts antidepressant effects in breast cancer-related depression by modulating metabolic pathways.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2026

Unraveling the role of polyamine metabolism in postoperative delirium: insights into biochemical mechanisms and biomarker potential.

npj aging
2026

Simvastatin Targets PKM2 to Alter Metabolic Reprogramming in Hepatic Stellate Cells and Mitigate Liver Fibrosis.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2025

Maternal Toxoplasma gondii Infection Perturbs Foetal and Maternal Foetal Interface Metabolism, Exposing the Foetus to Kynurenine.

British journal of biomedical science
2026

Roles of immune cell metabolism in rheumatoid arthritis.

Frontiers in immunology
2026

Gestational low carbamoyl phosphate suppresses TET2-mediated DNA demethylation and induces congenital heart disease in offspring.

Journal of advanced research
2026

3D reconstruction of human liver tissue at cellular resolution.

Science advances
2026

Lacto-N-triose II alleviates metabolic dysfunction-associated Steatotic liver disease via microbiota-dependent citrulline biosynthesis.

Food research international (Ottawa, Ont.)
2026

Integrating plasma metabolomics using UPLC-Q Exactive Orbitrap HRMS and targeted amino acid and neurotransmitter analysis in plasma and cerebrospinal fluid by LC-MS/MS to explore biomarkers in pregnancy women with insomnia.

Journal of pharmaceutical and biomedical analysis
2026

Insights into changes in glutaminergic metabolites in the anterior cingulate cortex: A systematic review and meta-analysis of magnetic resonance spectroscopy in schizophrenia.

Psychiatry research. Neuroimaging
2026

A canine PLP1 missense variant differentiates oligodendrocyte maturation in connatal and classical Pelizaeus-Merzbacher disease.

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

Immune cell dynamics and mechanisms of epithelial injury in celiac disease.

Frontiers in immunology
2026

Modulation of glutamate metabolic reprogramming via Ras-Raf-MEK/ERK signaling alleviates immune inflammation of astrocytes in glaucomatous neurodegeneration.

Free radical biology &amp; medicine
2026

Haikun Shenxi Capsule alleviates Alzheimer's disease by targeting mitophagy to clear turbidity toxin.

Journal of ethnopharmacology
2026

Metabolic reprogramming and immunosenescence: a new sight for glioma therapy.

Frontiers in cell and developmental biology
2026

Neurometabolics of the anterior cingulate cortex (ACC) in major depressive disorder (MDD): A systematic review and meta-analysis.

NeuroImage. Clinical
2026

Dendrimer-Conjugated Glutamine Antagonist, D-TTM020, Ameliorates Brain Immune Dysregulation and Improves Neurobehavioral Deficits in the Mecp2-Deficient Mouse Model.

Cells
2026

Carbonic anhydrases contribute to mitochondrial function, conidial development, and pathogenicity of Magnaporthe oryzae.

Applied and environmental microbiology
2026

Statins halt polycystic liver disease by reprogramming metabolism and normalizing mitochondrial bioenergetics in cystic cholangiocytes.

Hepatology (Baltimore, Md.)
2026

MTFP1 drives pancreatic cancer liver metastatic colonisation by regulating mitochondrial metabolism reprogramming.

Gut
2026

Overview of glutamine metabolism in stromal components of the tumor microenvironment and potential anti-tumor therapies.

Genes &amp; diseases
2025

Parents-child multiple sites of microbial and metabolic signatures in autism spectrum disorder.

Frontiers in microbiology
2026

Untangling amino acid metabolism in renal diseases: mechanisms, dysregulation, and critical gaps.

Clinical kidney journal
2025

Histopathological Correlation in Suspected Celiac Disease: Linking Clinical, Serological, and Endoscopic Findings.

F1000Research
2026

Mitochondrial DNA mutations and intercellular mitochondrial transfer in cancer: mechanisms, biological effects, and clinical potential.

Biomarker research
2026

Multi-omics insights into Shenling Baizhu Powder's amelioration of murine asthma through gut microbiota and Glutamine-GLS1 pathway.

Scientific reports
2026

Impact of obesity on aromatic amino acids and brain glucose during acute hyperglycemia.

American journal of physiology. Endocrinology and metabolism
2026

Identification and validation of a glutamine metabolism-related gene signature as a diagnostic and therapeutic target in osteoarthritis through integrated multi-omics analysis.

PeerJ
2026

Hyperbaric oxygen improves combined drug-induced hyperuricemia model in rats by remodeling gut microbiota and regulating host metabolism.

Biochemical and biophysical research communications
2026

Magnetic resonance spectroscopy in hospitalised older people shows age and delirium-specific metabolic changes.

Age and ageing
2026

Decreased N-acetylaspartate plus N-acetyl-aspartyl-glutamate levels in the caudate of schizophrenia patients with tardive dyskinesia.

Scientific reports
2026

Neurotransmitter alterations in seasonal affective disorder.

Scientific reports
2026

Elucidation of Molecular Mechanisms of Lipid-Altered Cytotoxicity of TDP-43 Fibrils.

ACS chemical neuroscience
2026

Glutamine transporter SLC1A5 inhibits autophagy-mediated CD276 degradation to promote esophageal cancer progression.

Cancer biology &amp; therapy
2026

An integrative multi-omics study reveals glutamine metabolism dysregulation connecting Alzheimer's disease and age-related macular degeneration.

Journal of Alzheimer's disease : JAD
2026

Retinal Müller glia alterations and their impact on ocular glymphatic clearance in an Alzheimer's disease mouse model.

Journal of Alzheimer's disease : JAD
2025

The fall of the genome protectors triad: PBRM1, SETD2, and BAP1's impact on metabolism and immunity in clear cell renal cell carcinoma.

Frontiers in cell and developmental biology
2026

Enzyme-Responsive Hemostatic Elastin-like Polypeptides for Fibrin Stabilization and Coagulation Restoration in Thrombocytopenia.

Journal of the American Chemical Society
2026

Therapeutic Effect of Arginine, Glutamine and β-Hydroxy β-Methyl Butyrate Mixture as Nutritional Support on DSS-Induced Ulcerative Colitis in Rats.

Nutrients
2026

The role of glutamine metabolism in cardiovascular diseases.

European journal of pharmacology
2026

Microbial transglutaminase in food biotechnology: from biochemical mechanisms to industrial applications.

Applied microbiology and biotechnology
2026

Transglutaminase 2 activation is involved in thoracic aortic dissection through disruption of endothelial adherens junctions.

European journal of pharmacology
2026

EGO complex at 20: The Rag GTPase-TORC1 nutrient-sensing blueprint.

Molecular cell
2026

Fecal microbiota transplantation promotes Wnt3a-mediated hippocampal neurogenesis in a rat model of chronic cerebral hypoperfusion.

Journal of translational medicine
2026

Glutamine enhances endothelial cell survival and vasodilation by increasing glutathione to reduce oxidative stress.

Physiological reports
2026

Association of a five-metabolite and early-symptom profile with Parkinson's disease and its clinical progression.

Scientific reports
2026

Exploring key genes in NAFLD linked to glutamine metabolism: A comprehensive analysis combining multi-omics, machine learning and SHAP.

Asia Pacific journal of clinical nutrition
2026

GFP-free live neuron quantitative imaging reveals compartmentalization and growth dynamics of polyQ aggregates.

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

Metabolic vulnerabilities in ovarian cancer decoding the nexus between nutrient adaptation and therapy resistance.

Journal of advanced research
2026

Metabolic reprogramming during human neuron differentiation indicates glutaminase as a key determinant in Fragile X syndrome.

Cell reports
2026

Inter-species variability in 4,4'-methylenedianiline metabolism: insights from human and rat precision-cut liverslices.

Regulatory toxicology and pharmacology : RTP
2026

Shared signatures of alcohol-associated dysbiosis in humans and non-human primates.

Current research in microbial sciences
2026

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non-Finnish Patients.

American journal of medical genetics. Part A
2026

Persistent DNA methylation and down-regulation of homeostatic genes in astrocytes after pilocarpine-induced status epilepticus: implications for epileptogenesis.

Clinical science (London, England : 1979)
2026

Simultaneous determination of short-chain fatty acids and tryptophan metabolites by a propyl chloroformate- derivatized GC-MS approach.

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences
2026

Serology-based diagnosis of coeliac disease in secondary care: a single-centre study in Norway.

Scandinavian journal of gastroenterology
2026

Investigating the molecular mechanisms of glutamine metabolism and mitochondria-related biomarkers in Alzheimer's disease through transcriptomics and experimental validation.

European journal of medical research
2026

Multi-organ metabolic dysregulation and cecal microbiota alterations following black carbon exposure.

Journal of advanced research
2026

Genetic traits and diet triggering the iron-induced hepatic model of the idiopathic disorder sporadic porphyria cutanea tarda.

Free radical biology &amp; medicine
2026

PIK3CG deficiency promotes metabolic reprogramming in pancreatic Cancer by suppressing GLS2-driven glutamine metabolism.

International immunopharmacology
2026

Multi-biofluid metabolomics coupled with gene network reveals stage-specific alterations in mild cognitive impairment and Alzheimer's disease in an ethnically mixed cohort.

Brain research
2026

The 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 research
2026

Elevated neurotransmitter levels in people with HIV are associated with attention function.

Neurobiology of disease
2026

Ampelopsin preserves glutamate homeostasis against cerebral ischemia.

Biomedicine &amp; pharmacotherapy = Biomedecine &amp; pharmacotherapie
2025

Gas chromatography-mass spectrometry-based plasma metabolomics analysis in hypertensive patients with Yin deficiency and Yang hyperactivity syndrome.

World journal of experimental medicine
2026

Mitochondrial proteomics reveals reductive metabolism dependent on glutamine in fibroblasts of idiopathic pulmonary fibrosis under hypoxia.

Scientific reports
2025

Dynamic Behavioral and Molecular Changes Induced by Chronic Restraint Stress Exposure in Mice.

International journal of molecular sciences
2025

ToF-SIMS Reveals Metformin-Driven Restoration of Hepatic Lipid and Amino Acid Profiles in a Type 2 Diabetes Rat Model.

International journal of molecular sciences
2025

Targeting the Glutaminolysis Pathway in Glaucoma-Associated Fibrosis.

International journal of molecular sciences
2026

Amino acid metabolic reprogramming: future prospects for cholangiocarcinoma therapy.

Cell death discovery
2026

Glucose exposure suppresses brain aromatase and impairs retinal regeneration in zebrafish.

Experimental eye research
2026

Unbiased metabolomics screening for potential biomarkers in patients with In-stent restenosis post percutaneous coronary intervention.

Scandinavian cardiovascular journal : SCJ
2026

Amino acid metabolism modulates chronic kidney disease progression by mediating the aging process: Mechanistic insights and therapeutic interventions.

Diabetes, obesity &amp; metabolism
2026

Ultramicronized palmitoylethanolamide restores astrocyte-neuron metabolic coupling and Klotho/FGF21 signaling in a triple-transgenic mouse model of Alzheimer's disease.

Biomedicine &amp; pharmacotherapy = Biomedecine &amp; pharmacotherapie
2026

Untargeted Serum Metabolomics Reveals Differential Signatures in Gallstone-Associated and Gallstone-Free Gallbladder Cancer Variants.

Journal of proteome research
2026

FOXM1/FUS facilitates triple-negative breast cancer malignant progression and glutamine metabolism through mediating SLC7A5 transcription.

Journal of molecular histology
2026

Pitolisant Inhibits Alcohol Drinking and Improves Withdrawal Negative Affect Through Lateral Habenula Histaminergic Signaling in Mice.

CNS neuroscience &amp; therapeutics
2026

Integrated omics-based analysis reveals distinct microbial-metabolite interaction networks in eosinophilic and non-eosinophilic chronic rhinosinusitis with nasal polyps in a Chinese population.

Rhinology
2026

Fatigue in major depression is linked to depression severity, not sleep duration or anterior cingulate cortex neurochemistry.

Journal of affective disorders
2026

Advances in understanding, diagnosing, and treating hepatic encephalopathy: from epidemiology to emerging therapies.

Naunyn-Schmiedeberg's archives of pharmacology
2026

Programmed 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 Neurophysiology
2026

Nickel refining fumes activate glutamine metabolism via the HIF-1α/Notch pathway to drive epithelial-mesenchymal transition in Beas-2B cells.

Toxicology
2026

Glutamine metabolites promote the progression of cervical cancer by inducing M2 macrophage polarization.

Pathology, research and practice
2026

Determination 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 analysis
2025

Sustained hippocampal neuroinflammation and subsequent glutamatergic dysfunction in juvenile idiopathic arthritis: evidence from proton magnetic resonance spectroscopy (1H-MRS).

Arthritis research &amp; therapy
2025

The metabolomic profile of psoriatic arthritis patients unveils the unbalance of disease-related molecules and pathways.

Scientific reports
2025

Integrative Single-Cell and Machine Learning Analysis Develops a Glutamine Metabolism-Based Prognostic Model and Identifies MSMO1 as a Therapeutic Target in Osteosarcoma.

Biomolecules
2026

Biomimetic Liposome Coloaded ES-Cu and PFK15 Amplify Cuproptosis through Inhibition of Glycolysis in Fibroblast-Like Synoviocytes for Rheumatoid Arthritis Therapy.

ACS applied materials &amp; interfaces
2025

Transglutaminase-2 Promotes Microglial Synaptic Phagocytosis and Ameliorates Epileptic Seizures by Inhibiting ABCA1 Ubiquitination.

CNS neuroscience &amp; therapeutics
2025

Elevated brain glutamine levels in adults with autism spectrum disorder: A 7T MRS study.

Molecular psychiatry
2025

Association between mental health and MASLD molecular insights through metabolomics.

Communications medicine
2025

Integrated Multi-omics Analysis of Hub Genes and miRNA Interactions in Hypertrophic Cardiomyopathy.

Current genomics
2026

Metabolic Reprogramming of Adaptive Immunity Induced by Viral Infections.

Immunology
2025

Multi-omics dissection of SNP-mediated immunometabolic signatures in Alzheimer's disease reveals a novel individual predictive model.

NPJ digital medicine
2026

A Predictive Model of Duodenal Atrophy in Adults With Celiac Disease: Could Diagnostic Endoscopy Be Avoided?

Journal of clinical gastroenterology
2025

Metabolic Astrocytic Support with Decanoic Acid Enhances Energy Metabolism in Alzheimer's Disease Models.

Cells
2025

Interplay Between Glutamine Metabolism and Other Cellular Pathways: A Promising Hub in the Treatment of HNSCC.

Cells
2025

SLC38A3 deficiency reveals a critical role of blood-derived glutamine in brain development.

Brain : a journal of neurology
2025

NEDD4 suppresses ferroptosis in lung ischemia-reperfusion injury by ubiquitinating and degrading SLC1A5.

Scientific reports
2025

Differences of respiratory tract flora and metabonomic characteristics of lung lavage fluid in pneumoconiosis model rats.

Scientific reports
2026

Evaluation of GABAergic and Glutamatergic Levels in the Dorsal Anterior Cingulate Cortex of Patients With Bipolar Disorder: A Cross-Sectional 1H-MRS Study.

Neuropsychopharmacology reports
2025

Metabolomic Markers and Pathways of Blood-Brain Barrier Damage: A Systematic Review.

Comprehensive Physiology
2026

Multifaceted roles of HDAC7 in disease and the evolving chemical toolkit for its modulation.

Bioorganic &amp; medicinal chemistry letters
2025

Polyacrylic acid, but not polyethylene glycol, induces metabolic reprogramming linked to pulmonary fibrosis in rats.

Scientific reports
2026

Role 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 Association
2026

The transaminase-ω-amidase pathway senses oxidative stress to control glutamine metabolism and α-ketoglutarate levels in endothelial cells.

The EMBO journal
2025

Exploring the role of GLS1 in colorectal cancer progression through the glutamine metabolism-PI3K signaling-autophagy axis.

International journal of surgery (London, England)
2026

Celastrol delays the progression of hepatocellular carcinoma by suppressing SLC1A5-mediated glutamine dependence.

Toxicology and applied pharmacology
2026

Cleavage of cellular substrate porcine gasdermin D by porcine torovirus 3C-like protease induces pyroptosis.

Virulence
2025

Causal effects of glutamine and lipid-related metabolites on alopecia areata: A 2-sample Mendelian randomization study.

Medicine
2026

Development of a glutamine-responsive MRI contrast agent.

Chemical science
2025

Microbiota-sphingolipid pathway in generalized epilepsy: evidence from Mendelian randomization and clinical metabolomics.

Frontiers in microbiology
2025

Integrated multi-omics analysis of renal metabolism in domestic cats with spontaneous chronic kidney disease.

Communications biology
2025

Ammonia reduces glutamine synthetase expression in astrocytes via activation of Hippo-YAP signaling pathways.

Communications biology
2025

Glutamine: fructose-6-phosphate amidotransferase (GFAT) in the pathology of diseases: a review.

Cell death discovery
2026

Identification of the function of the metabolite repair enzyme Nit1: the story of a collaboration with Arthur Cooper.

Analytical biochemistry
2026

Diazepam modulates anterior cingulate glutamate levels in people at clinical high-risk for psychosis.

The international journal of neuropsychopharmacology
2026

Elucidating time-resolved intracellular metabolic dynamics via label-free Raman microspectroscopy and 2D correlation spectroscopy.

The Analyst
2025

Effects of Chronic Moderate Alcohol Intake on Metabolic Phenotypes and Gut Microbiota in Lean and Obese Mice with Distinct Dietary Structures.

Nutrients
2025

Accessing Altered Metabolic Profile in Acute Deep Vein Thrombosis Through Nuclear Magnetic Resonance Spectroscopy.

International journal of molecular sciences
2026

NADPH Oxidase 4 and Metabolic Stress in Dahl Salt-Sensitive Rat Kidneys.

Hypertension (Dallas, Tex. : 1979)
2026

The astrocytic engine: Na+,K+-ATPase at the nexus of brain function and malfunction.

American journal of physiology. Cell physiology
2025

Multiomics analysis of neutrophils in SLE: insights from adult and paediatric disease.

Clinical and experimental immunology
2025

A Remote-Controlled Nanopump Delivers Oxygen to Boost Energy Production in Osteoarthritis.

ACS nano
2025

High matrix stiffness triggers the YAP-OPA1-TET1/3 loop to drive chemoresistance via enhanced nuclear-mitochondrial communication.

iScience
2026

Skin manifestations in individuals with undiagnosed celiac seropositivity: a cross-sectional study.

Scandinavian journal of gastroenterology
2026

Promoter demethylation and protein O-GlcNAcylation-mediated enhancement of fatty acid synthase contributes to hepatic steatosis and inflammation in MASLD.

The Journal of nutritional biochemistry
2025

Neurometabolic signatures of gastrointestinal symptoms in the insula of Crohn's disease patients: explorative findings from a 7T MRS study.

Frontiers in human neuroscience
2026

Three mammalian VDAC isoforms distinctly regulate mitochondrial function and proteome to maintain cell metabolism.

The Journal of biological chemistry
2025

Infection with Helicobacter pylori and the age at onset of coeliac disease in the "HUNT4" survey.

BMC research notes
2025

Pathway coessentiality mapping reveals complex II is required for de novo purine biosynthesis in acute myeloid leukaemia.

Nature metabolism
2026

Use of non-bound proteinogenic amino acids to modulate the growth of pathogenic bacteria from broiler chickens.

Poultry science
2025

Phosphodiesterase-4 Inhibition: An Experimental Approach to Overcome Drug Resistance in a Rotenone-Corneal 6 Hz Kindling Mouse Model of Drug-Resistant Epilepsy.

Molecular neurobiology
2026

Altered biopterin-related cofactor metabolism in the aqueous humor of glaucoma patients.

Experimental eye research
2026

SLBP promotes lung adenocarcinoma progression by inhibiting ferroptosis and reprogramming glutamine metabolism via FADS2 interaction.

Experimental cell research
2025

Plasma amino acid profile in obese children, adolescents, and adults: similarities or differences - a narrative review.

Endokrynologia Polska
2025

Alterations in short-chain fatty acid-associated gut microbiota and tight junction integrity in adolescent major depressive disorder.

Translational psychiatry
2026

Fecal metabolomics in Crohn's disease reveal N-Acetylglutamine as a Th17/Treg modulator.

Molecular immunology
2025

Indoxyl sulfate promoted glutamine metabolism and cell proliferation in urothelial carcinoma involving Runx2.

Biomedicine &amp; pharmacotherapy = Biomedecine &amp; pharmacotherapie
2026

In 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 biomedicine
2025

Role of metabolites in mediating the effect of gut microbiota on Crohn disease: A two-step Mendelian randomization (MR) study.

Medicine
2025

Integrative bioinformatics and machine learning approach unveils potential biomarkers linking coronary atherosclerosis and glutamine metabolism-associated gene.

Journal of cardiothoracic surgery
2025

Growth hormone-releasing peptide 6 (GHRP-6) hydrogel for acute kidney injury therapy via metabolic regulation.

Journal of nanobiotechnology
2026

The Glutamine Metabolic Switch Influences the Response of Neonatal Intestinal Macrophages to Breast Milk.

Cellular and molecular gastroenterology and hepatology
2025

Diagnostic Evaluation of Seronegative Celiac Disease.

Archives of medical research
2025

Closing the evidence loop-membrane-lipid homeostasis and vesicular transport link DEHP exposure to endometriosis.

Human genomics
2025

Potential glutamine metabolism-related biomarkers were identified in osteoarthritis by bioinformatics.

Scientific reports
2025

The effect of alpha lipoic acid and caffeine loaded into chitosan nanoparticles on the hypothalamic amino acid neurotransmitters in a rat model of obesity.

Scientific reports
2026

Conditional deletion of glutaminase 1 in Tnfrsf11a-expressing cells reduces bone mass and induces postnatal growth retardation in mice.

Biochemical and biophysical research communications
2026

The role of continued immunoglobulin A monitoring in celiac disease management.

Journal of pediatric gastroenterology and nutrition
2025

Gut Microbiotas, Plasma Metabolites, and Autism Spectrum Disorder: A Bidirectional Mendelian Randomization Analysis.

Pathogens (Basel, Switzerland)
2025

Metabolomics Signatures of Atherosclerosis in Cardiovascular Disease: A Narrative Systematic Review.

Journal of clinical medicine
2025

Cerebrospinal Fluid Neurotransmitters, Pterins, Folates and Amino Acids in Paediatric Onset Epilepsies: A Tertiary Centre Retrospective Cohort Study.

Children (Basel, Switzerland)

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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. AKT1 phosphorylates PRMT7 to promote GLUD1 methylation and gastric cancer progression.
    Cell death &amp; disease· 2026· PMID 41876450mais citado
  2. Tissue and CD4 T cell subset dependence on the amino acid transporter SLC38A1.
    Cell metabolism· 2026· PMID 41875885mais citado
  3. From metabolism to mood regulation: astrocytes as a driver of depression.
    Frontiers in cellular neuroscience· 2026· PMID 41859358mais citado
  4. The cross-linking activity of transglutaminase 2 drives &#x3b1;-Synuclein pathology in synucleinopathy models.
    Proceedings of the National Academy of Sciences of the United States of America· 2026· PMID 41855257mais citado
  5. Circulating gut microbial metabolites and risk of coronary heart disease: A prospective multi-stage metabolomics study.
    PLoS medicine· 2026· PMID 41843497mais citado
  6. Glutaminase 1 in Vascular Disease: Linking Metabolic Reprogramming to Atherosclerosis Progression and Stability.
    J Cardiovasc Transl Res· 2026· PMID 41811615recente
  7. ALG8-Driven Metabolic Reprogramming in Polycystic Kidney Disease: A Systematic Synthesis of Evidence Linking Glycosylation Defects to Metabolic Signaling.
    IUBMB Life· 2026· PMID 41772913recente
  8. α-Ketoglutarate protects against cartilage damage via epigenetically driven metabolic reprogramming in osteoarthritis models.
    J Clin Invest· 2026· PMID 41766657recente
  9. Phenylacetylglutamine is associated with diabetic retinopathy via transgelin-mediated ferroptosis in hyperglycemic retinal epithelial cells.
    Exp Cell Res· 2026· PMID 41765161recente
  10. Neonatal Hyperoxia Induces Metabolic Reprogramming in Senescent Alveolar Macrophages, Leading to Persistent Lung Injury.
    Front Biosci (Landmark Ed)· 2026· PMID 41761973recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:289841(Orphanet)
  2. MONDO:0017352(MONDO)
  3. GARD:21156(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. 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

Doença do metabolismo da glutamina
Compêndio · Raras BR

Doença do metabolismo da glutamina

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