Doença metabólica hereditária que tem como base a interrupção da gliconeogênese.
Introdução
O que você precisa saber de cara
Doença metabólica hereditária que tem como base a interrupção da gliconeogênese.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 70 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 138 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
6 genes identificados com associação a esta condição.
Mitochondrial carbonic anhydrase that catalyzes the reversible conversion of carbon dioxide to bicarbonate/HCO3 (PubMed:24530203, PubMed:8356065). Mitochondria are impermeable to HCO3, and thus this intramitochondrial carbonic anhydrase is pivotal in providing HCO3 for multiple mitochondrial enzymes that catalyze the formation of essential metabolites of intermediary metabolism in the urea and Krebs cycles (PubMed:24530203)
Mitochondrion
Hyperammonemia due to carbonic anhydrase VA deficiency
An autosomal recessive inborn error of metabolism, clinically characterized by infantile hyperammonemic encephalopathy. Metabolic abnormalities include hypoglycemia, hyperlactatemia, metabolic acidosis and respiratory alkalosis.
Mitochondrial phosphoenolpyruvate carboxykinase that catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle (PubMed:28955899). Can play an active role in glyceroneogenesis and gluconeogenesis (PubMed:28955899). Also acts as a serine/threonine-protein kinase: phosphorylates and activates ACSL4, thereby promoting ferroptosis (PubMed:387201
Mitochondrion
Mitochondrial phosphoenolpyruvate carboxykinase deficiency
Metabolic disorder resulting from impaired gluconeogenesis. It is a rare disease with less than 10 cases reported in the literature. Clinical characteristics include hypotonia, hepatomegaly, failure to thrive, lactic acidosis and hypoglycemia. Autopsy reveals fatty infiltration of both the liver and kidneys. The disorder is transmitted as an autosomal recessive trait.
Kinase that plays a key role in glycerol metabolism, catalyzing its phosphorylation to produce sn-glycerol 3-phosphate. Sn-glycerol 3-phosphate is a crucial intermediate in various metabolic pathways, such as the synthesis of glycerolipids and triglycerides, glycogenesis, glycolysis and gluconeogenesis
Mitochondrion outer membraneNucleusCytoplasm, cytosol
Glycerol kinase deficiency
A metabolic disorder manifesting as 3 clinically distinct forms: infantile, juvenile, and adult. The infantile form is the most severe and is associated with severe developmental delay and adrenal insufficiency. Patients with the adult form have no symptoms and are often detected fortuitously. GKD results in hyperglycerolemia, a condition characterized by the accumulation of glycerol in the blood and urine.
Cytosolic phosphoenolpyruvate carboxykinase that catalyzes the reversible decarboxylation and phosphorylation of oxaloacetate (OAA) and acts as the rate-limiting enzyme in gluconeogenesis (PubMed:24863970, PubMed:26971250, PubMed:28216384, PubMed:30193097). Regulates cataplerosis and anaplerosis, the processes that control the levels of metabolic intermediates in the citric acid cycle (PubMed:24863970, PubMed:26971250, PubMed:28216384, PubMed:30193097). At low glucose levels, it catalyzes the ca
Cytoplasm, cytosolEndoplasmic reticulum
Phosphoenolpyruvate carboxykinase deficiency, cytosolic
An autosomal recessive metabolic disorder characterized by impaired gluconeogenesis, hypoglycemia, hypotonia, hepatomegaly, hepatic dysfunction, failure to thrive, lactic acidosis, and elevated tricarboxylic acid intermediates, particularly fumarate, in urine.
Pyruvate carboxylase catalyzes a 2-step reaction, involving the ATP-dependent carboxylation of the covalently attached biotin in the first step and the transfer of the carboxyl group to pyruvate in the second. Catalyzes in a tissue specific manner, the initial reactions of glucose (liver, kidney) and lipid (adipose tissue, liver, brain) synthesis from pyruvate
Mitochondrion matrix
Pyruvate carboxylase deficiency
Leads to lactic acidosis, intellectual disability and death. It occurs in three forms: mild or type A, severe neonatal or type B, and a very mild lacticacidemia.
Catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate in the presence of divalent cations, acting as a rate-limiting enzyme in gluconeogenesis. Plays a role in regulating glucose sensing and insulin secretion of pancreatic beta-cells. Appears to modulate glycerol gluconeogenesis in liver. Important regulator of appetite and adiposity; increased expression of the protein in liver after nutrient excess increases circulating satiety hormones and reduces appetite-stimulating
Fructose-1,6-bisphosphatase deficiency
An autosomal recessive metabolic disorder characterized by impaired gluconeogenesis, and episodes of hypoglycemia and metabolic acidosis that can be lethal in newborn infants or young children.
Variantes genéticas (ClinVar)
342 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
10 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 da gliconeogênese
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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
Ensaios em destaque
🟢 Recrutando agora
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Outros ensaios clínicos
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Publicações mais relevantes
Hepatic GAPDH prevents excessive fasting-induced steatosis via serine-dependent inhibition of diacylglycerol synthesis.
Este estudo revela que a enzima GAPDH no fígado é fundamental para prevenir o acúmulo excessivo de gordura (esteatose) em condições de jejum ou dietas cetogênicas. A pesquisa mostra que a deficiência de GAPDH agrava a esteatose hepática, mas a suplementação com o aminoácido serina pode inibir esse processo. Isso sugere um potencial alvo terapêutico para desordens metabólicas relacionadas ao fígado gorduroso.
🇧🇷 traduzidoA label-free microLC-SWATH-MS methodology with immunoaffinity depletion of highly abundant serum proteins for quantitative proteomic comparison of fresh-frozen human normal breast tissue and tumor clinical specimens.
Este estudo desenvolveu uma nova metodologia de proteômica (microLC-SWATH-MS) para identificar e quantificar diferenças significativas em proteínas entre tecido mamário normal e tumoral. A técnica permitiu a descoberta de 158 proteínas que variam no câncer, envolvidas em processos como a organização da matriz extracelular e vias metabólicas, incluindo a gluconeogênese/glicólise. Embora promissor para a identificação de potenciais biomarcadores e alvos terapêuticos para a oncologia de precisão, esses achados necessitam de validação em estudos com maior número de pacientes para sua aplicação clínica.
🇧🇷 traduzidoActivation of phosphoenolpyruvate carboxykinase increases intracellular glucose levels in podocytes under hyperglycemic conditions.
Em condições de açúcar elevado no sangue (hiperglicemia, como na diabetes), as células dos rins responsáveis pela filtração (podócitos) ativam uma enzima chave, a PCK. Essa ativação aumenta a produção de glicose *dentro* dos podócitos, causando uma sobrecarga de açúcar nessas células e contribuindo para o dano renal diabético. Para pacientes e médicos, este estudo aponta que inibir a PCK pode ser uma nova estratégia terapêutica para proteger os rins e tratar a doença renal diabética.
🇧🇷 traduzidoTriptolide Inhibits Renal Fibrosis Through Promotion of PGC1α/PCK1-mediated Renal Gluconeogenesis.
Este estudo indica que a triptolida, um composto natural já utilizado na China para doenças renais, pode inibir a fibrose renal, um problema central na doença renal crônica. Ela age promovendo a gluconeogênese renal (produção de glicose) através da ativação do eixo PGC1α/PCK1, um processo que demonstrou reduzir a inflamação e os marcadores de fibrose nos rins. Para pacientes e médicos, isso aponta para um potencial novo mecanismo de ação para um tratamento existente, com implicações para o manejo da fibrose renal.
🇧🇷 traduzidoChronic intermittent hypoxia reshapes circadian metabolic architecture in a model of sleep apnea.
Este estudo demonstra que a hipoxia crônica intermitente associada à apneia do sono reprograma significativamente o metabolismo do corpo, especialmente no fígado, alterando a forma como a energia é processada. Há uma mudança notável para processos que economizam oxigênio, como a **gliconeogênese** (produção de glicose) e mobilização de lipídios, em detrimento do metabolismo oxidativo, impactando as oscilações metabólicas diárias. Para pacientes e médicos, isso implica que a apneia do sono não apenas causa disfunções metabólicas, mas reorganiza o "relógio" metabólico, contribuindo para a desregulação da glicose e outros distúrbios metabólicos de forma temporalmente específica.
🇧🇷 traduzidoPublicações recentes
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📚 EuropePMC1 artigos no totalmostrando 200
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International immunopharmacologyProteomic Signatures of Dental Enamel Hypomineralization: Divergent Molecular Pathways in Coal-Burning vs. Drinking-Water Fluorosis.
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Frontiers in medicineSHP1 overexpression ameliorates renal fibrosis via inhibition of STAT3 signaling and glycolysis reprogramming.
Scientific reportsIntegrated analysis of DNA methylation and transcriptome profiles in broiler heart and lung tissues reveals epigenetic regulatory mechanisms underlying ascites syndrome.
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Drug metabolism and personalized therapyTemporal Dynamics of the Plasma Proteomic Landscape Reveals Maladaptation in ME/CFS Following Exertion.
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Frontiers in endocrinologyRNA sequencing analysis in chicken spleen infected with Newcastle disease virus reveals genotype-specific immune response.
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Nutrition reviewsApplication of a Non-Targeted Metabolomics Study in Plasmodium berghei-Infected Rats: Towards Unravelling Metabolic Alterations During Malaria Infection.
International journal of molecular sciencesAssociation of fructose-1,6-diphosphatase 1 with the progression of diabetic kidney disease.
Nutrition & metabolismACLY facilitates alanine flux in the livers of db/db mice: a hyperpolarized [1-13C]pyruvate MRS study.
Frontiers in endocrinologyMup3 ameliorates the dysregulation of glucose and lipid metabolism in MAFLD.
Acta pharmacologica SinicaComparative transcriptomics of naturally susceptible and resistant Trypanosoma cruzi strains in response to Benznidazole.
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Translational psychiatryInnovative Therapeutic Approaches Targeting Obesity: Can Flavonoids Improve the Efficacy of Anti-Obesogenic Drugs?
International journal of molecular sciencesTriglycerides, Glucose Metabolism, and Type 2 Diabetes.
International journal of molecular sciencesExosomal miRNAs Mediate Immune-Metabolic Interactions in the Hemocytes of the Pearl Oyster Pinctada fucata martensii.
Animals : an open access journal from MDPIPrecision Probiotics Regulate Blood Glucose, Cholesterol, Body Fat Percentage, and Weight Under Eight-Week High-Fat Diet.
Metabolitesp53 regulates glucose metabolic reprogramming in MASLD-related hepatocellular carcinoma via modulating mitochondrial pyruvate carriers.
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Science China. Life sciencesLGALS3BP Induces Insulin Resistance via TLR2-IKKα/β Pathway-Mediated IRS1 Serine Phosphorylation.
Endocrinology and metabolism (Seoul, Korea)Polygalae Radix extracts show anti-Parkinson's disease effects and reduce depression-like symptoms by modulating energy metabolism.
Journal of ethnopharmacologyCurcumin for the treatment of pituitary adenomas: the potential of a single agent for multifaceted therapeutic effects.
Frontiers in endocrinologyCobalt exposure increases fasting plasma glucose by inhibiting hepatic glycogen synthesis and enhancing gluconeogenesis.
Journal of hazardous materialsThe regulatory and synergistic effects of FBP2 and HKDC1 on glucose metabolism and malignant progression in gastric cancer.
Cell death & diseaseFrom Diabetes to Degenerative Diseases: The Multifaceted Action of Metformin.
International journal of molecular sciencesGlucagon acutely stimulates hepatic gluconeogenesis.
PeptidesHumanized monoacylglycerol acyltransferase 2 mice on a high-fat diet exhibit impaired liver detoxification during metabolic dysfunction-associated steatotic liver disease.
PloS oneComparative transcriptome analysis reveals potential candidate genes for resistance to Edwardsiella tarda in turbot (Scophthalmus maximus).
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Metabolism openHyperbaric oxygen treatment mitigates gut dysbiosis of mice with spinal cord injury.
Journal of molecular medicine (Berlin, Germany)Glucose-6-phosphatase catalytic subunit 3 enhances host resistance to porcine epidemic diarrhea virus through regulating glycolysis/gluconeogenesis.
The veterinary quarterlySingle-cell multi-omics dissection of c-Myb/AURKA-mediated autophagy and metabolic reprogramming in diabetic adipose-derived stem cells.
Frontiers in immunologyNovel insights into the hepatoprotective mechanisms of SGLT2 inhibitor empagliflozin in Zucker diabetic fatty rats.
Frontiers in pharmacologyAsprosin as a regulator of hepatic lipogenesis and its association with hepatic steatosis.
Journal of lipid researchEthyl acetate extract of Sargentodoxa cuneata and Patrinia villosa alleviates pelvic inflammation by shifting macrophages polarization.
Phytomedicine : international journal of phytotherapy and phytopharmacologyTranscriptome Analysis of Penaeus vannamei Hepatopancreas in Response to Lactococcus garvieae Infection in Low Salinity.
Journal of fish diseasesSalt-sensitive hypertension promotes neuronal mitochondrial stress and neurodegenerative alterations via neuro-vascular metabolic reprogramming and local RAS signaling.
Journal of neuroinflammationSystematic metabolomic study on the plasma and urine of a mouse model of Alport syndrome.
Scientific reportsRegulation of airway fumarate by host and pathogen promotes S. aureus pneumonia.
bioRxiv : the preprint server for biologyDysregulation of cellular metabolism within the gut-brain axis is associated with behavioural changes in chronic intestinal inflammation.
Journal of neuroinflammationAcute Toxoplasma gondii Infection Drives Gut Microbiome Dysbiosis and Functional Disruption in Mice as Revealed by Metagenomic Sequencing.
MicroorganismsNicotinamide N-Methyltransferase in Cardiovascular Diseases: Metabolic Regulator and Emerging Therapeutic Target.
BiomoleculesRole of the Th2-like Immune Response in Obesity: IL-4 as a Metabolic Regulator and IL-13 as an Effector of Muscle Energy Metabolism.
BiomedicinesThe physiology of MASLD: molecular pathways between liver and adipose tissues.
Clinical science (London, England : 1979)Unraveling the persistent renal impact of intrauterine growth restriction and catch-up growth: integrating morphological insights with metabolomic profiling.
Journal of molecular histologyBerberine: A Bitter Phytochemical With Diversely Sweet Therapeutic Properties.
Nutrition reviewsRedox-dependent liver gluconeogenesis impacts different intensity exercise in mice.
Nature metabolismThe First Reported Albanian Patient With Fructose-1,6-Bisphosphatase Deficiency: A Rare Disorder of Fructose Metabolism.
Case reports in medicineLactate as an Exercise Mimetic: Mitigating Disuse Atrophy and Improving Muscle Endurance in Aging SAMP8 Mice.
Molecular and cellular biologyFatty acid transport protein 2 inhibition enhances glucose tolerance through α cell-mediated GLP-1 secretion.
The Journal of clinical investigationThe functionally conserved human lncRNA motif GULF lowers glucose and lipid levels in obese mice.
The Journal of clinical investigationBrain histaminergic system: An emerging target for the treatment of feeding and eating-related disorders.
Pharmacological researchComparative Analysis of the Fecal Proteome in Two Canine Breeds: Dalmatians and Weimaraners.
International journal of molecular sciencesDegraded Polysaccharides from Noni (Morinda citrifolia L.) juice Mitigate Glucose Metabolism Disorders by Regulating PI3K/AKT-Nrf2-GSK3β Signaling Pathways in HepG2 Cells.
Foods (Basel, Switzerland)Cideb knockdown in mice increases mitochondrial fat oxidation and reverses hepatic steatosis and insulin resistance by the plasma membrane sn-1,2-DAGs-PKCε-insulin receptor kinaseT1150 pathway.
DiabetologiaGut Microbiota Dysbiosis Remodels the Lysine Acetylome of the Mouse Cecum in Early Life.
BiologyAmygdala-liver signalling orchestrates glycaemic responses to stress.
NatureHepatic Glucocorticoid Receptor Action and Glucose Homeostasis.
Endocrine reviewsMetabolic rewiring of isoniazid sensitivity in Mycobacterium tuberculosis.
Proceedings of the National Academy of Sciences of the United States of AmericaLactate lactylation in neural pathophysiology: Bridging metabolism and neurodegeneration.
NeuroscienceJiangtang Decoction for Type 2 Diabetes and NAFLD: Integrative Analysis via Network Pharmacology, Mendelian Randomization, Molecular Docking, and In Vitro Validation.
Endocrine, metabolic & immune disorders drug targetsATP8B1 Deficiency Causes Phosphodiesterase 4-Mediated Glucagon Resistance and Impaired Gluconeogenesis in Mouse and Human Liver.
Liver international : official journal of the International Association for the Study of the Liverα-Linolenic acid rich-chia seed improves glucose tolerance, modulates gluconeogenic pathway and hepatic insulin signaling in an experimental model of metabolic syndrome.
Molecular and cellular endocrinologyMitochondrial dysfunction and metabolic reprogramming in acute kidney injury: mechanisms, therapeutic advances, and clinical challenges.
Frontiers in physiologySyzygium samarangense fruit extract attenuates hyperglycemia in type 2 diabetic rats through modulation of oxidative stress and inflammation.
Biomedical reportsEffects and potential mechanisms of Alismatis Rhizoma extracts on glucose and lipid metabolism: A systematic review and meta-analysis of rodent studies.
Journal of ethnopharmacologyEpizootic shell disease induces systemic transcriptomic shifts in Homarus americanus, characterized by increased shell degradation and impaired energy metabolism across tissues.
Frontiers in physiologyEvaluating neonatal cord serum metabolome in association with adolescent cardiometabolic risk factors.
Pediatric researchSingle-cell transcriptomics combined with spatial transcriptomics reveals a fibrotic microenvironment in hyperuricemic nephropathy.
European journal of pharmacologyTreatment of achalasia led to normalisation of energy metabolism and proteosynthesis dependent on the pool of circulating amino acids; metabolomic monitoring and body composition analysis on insufficient nutrition.
Metabolomics : Official journal of the Metabolomic SocietyHepatic ENTPD5 Is Critical for Maintaining Metabolic Homeostasis and Promoting Brown Adipose Tissue Thermogenesis.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Impaired Aggrephagy, Interrupted Vesicular Trafficking, and Cellular Stress, Lead to Protein Aggregation, and Synaptic Dysfunction in Cerebellum of Children and Adults with Idiopathic Autism.
Cerebellum (London, England)Metformin and Adipose Tissue: A Multifaceted Regulator in Metabolism, Inflammation, and Regeneration.
Endocrinology and metabolism (Seoul, Korea)Differential Network Analysis Integrates Pathway Mapping to Characterize Dynamic Metabolic Changes in the Progression of Diabetic Complications.
Journal of proteome researchThe transcriptomic-based disease network reveals synergistic therapeutic effect of total alkaloids from Coptis chinensis and total ginsenosides from Panax ginseng on type 2 diabetes mellitus.
Chinese journal of natural medicinesRegulation of airway fumarate by host and pathogen promotes Staphylococcus aureus pneumonia.
Nature communicationsThe Power of Drosophila in Modeling Cancer Cachexia.
Advances in experimental medicine and biologyPolypeptides synthesized by common bacteria in the human gut improve rodent metabolism.
Nature microbiologyIntegrated transcriptomic and immune enzymatic analyses uncover coordinated immunometabolic responses in large yellow croaker (Larimichthys crocea) to Metanophrys sp. infection.
Frontiers in immunologyIntegrated proteomics and metabolomics analysis of liver tissue reveal the therapeutic effect of Jiedu Huayu Granules on acute liver failure in rats.
Journal of pharmaceutical and biomedical analysisMechanistic insights into postbiotics as therapeutic agents in type 2 diabetes management.
Naunyn-Schmiedeberg's archives of pharmacologyLipid Hormones at the Intersection of Metabolic Imbalances and Endocrine Disorders.
Current issues in molecular biologyCopper Pyrithione Induces Hepatopancreatic Apoptosis and Metabolic Disruption in Litopenaeus vannamei: Integrated Transcriptomic, Metabolomic, and Histopathological Analysis.
Animals : an open access journal from MDPILactobacillus paragasseri SBT2055 suppressed insulin resistance and fatty liver by inhibiting oxidative stress and inflammation in high-fat diet-induced obese mice.
Beneficial microbesIntegrative analysis of thiamethoxam induced hepatocellular carcinoma toxicity mechanisms.
Scientific reportsLetter "Role of amino acids in the regulation of hepatic gluconeogenesis and lipogenesis in metabolic dysfunction-associated steatotic liver disease".
Clinical and molecular hepatologySodium-glucose Cotransporter-2 Canagliflozin's impact on cardiovascular disease in the setting of metabolic syndrome: A proteomic analysis.
European journal of pharmacologyConcerted Actions of FoxO1 and PPARα in Hepatic Gene Expression and Metabolic Adaptation.
DiabetesTelmisartan reverses hepatic steatosis via PCK1 upregulation: A novel PPAR-independent mechanism in experimental models of MASLD.
Pharmacological researchIntegrating multi-omics and machine learning strategies to explore the "gene-protein-metabolite" network in ischemic heart failure with Qi deficiency and blood stasis syndrome.
Chinese medicineThe induced-fit and catalytic mechanisms of human G6PC1.
Cell discoveryTTC36 as a prognostic biomarker in nonmetastatic hepatocellular carcinoma: A TCGA-based cohort study.
MedicineMulti-omics analyses revealed the distinct effects of calorie restriction diets with different fat-to-energy ratios on body weight and glycolipid metabolism in rats.
The Journal of nutritional biochemistryPhosphoenolpyruvate carboxykinase 1-mediated cataplerosis is required to maintain mitochondrial fitness and to avoid kidney disease progression.
Kidney internationalIdentification of lipid biomarkers at different stages of breast cancer by rapid evaporative ionization mass spectrometry (REIMS) using syngeneic balb/c mice breast cancer model.
BiochimieA pharmacological profile of triheptanoin for the treatment of long-chain fatty acid oxidation disorders.
Expert review of clinical pharmacologyLessons from Glucocorticoids, Metformin, and Dimethyl Fumarate: Could Targeting Immunometabolism Lead to Better Anti-Inflammatory Therapies?
Annual review of pharmacology and toxicologyRole of acitretin in regulating glucose and lipid homeostasis in an imiquimod-induced psoriasis model mouse.
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciencesAspirin-Inspired 6-O-Carboxymethyl-N-Acetylglucosamine: A potent antitumor agent with enhanced efficacy.
Apoptosis : an international journal on programmed cell deathIncretin-based therapy: An update focusing on the major revolution in cardiovascular-kidney-metabolic health.
Journal of the Chinese Medical Association : JCMAIntegrated proteomics and transcriptomics analysis reveals key regulatory genes between ER-positive/PR-positive and ER-positive/PR-negative breast cancer.
BMC cancer2'-Fucosyllactose synbiotics with Bifidobacterium bifidum to improve intestinal transcriptional function and gut microbiota in constipated mice.
Food research international (Ottawa, Ont.)TIMM8B promotes oxidative phosphorylation and glycolysis by inhibiting the mtROS/ASK1/JNK signaling pathway in ovarian cancer.
Biology directGluconeogenesis related gene signatures as biomarkers for nonspecific orbital inflammation.
Scientific reportsMetabolite perturbations in type 1 diabetes associated with metabolic dysfunction-associated steatotic liver disease.
Frontiers in endocrinologyIntegration of Transcriptomics and Metabolomics Reveals Mechanisms of High-Temperature Stress Tolerance in the Hepatopancreas of Penaeus monodon.
BiologyThe Liver Disease-Related Hypoglycemia: An Overview of the Impact, Management Approaches, and Underlying Mechanisms.
British journal of hospital medicine (London, England : 2005)Non-targeted metabolomics studies revealed the effects of environmentally relevant concentrations of perfluorooctane sulfonic acid (PFOS) on carbohydrate metabolism in red claw crayfish (Cherax quadricarinatus).
Comparative biochemistry and physiology. Part D, Genomics & proteomicsHub biomarkers and their clinical relevance in glycometabolic disorders: A comprehensive bioinformatics and machine learning approach.
Chinese medical journalTranscriptomic profiling and biomarker discovery in pre-eclampsia: An integrated approach leveraging WGCNA and LASSO with ROC validation.
Computational biology and chemistryBiomicroplastics and Antibiotics: A Toxic Cocktail for Fatty Liver Disease in Marine Medaka.
Environmental science & technologyThyrotropin exacerbates insulin resistance by triggering macrophage inflammation in subclinical hypothyroidism.
Experimental & molecular medicineThe role of plant-based dietary compounds in gut microbiota modulation in inflammatory bowel disease.
Frontiers in nutritionProtocol to Use Mouse Hepatocyte Cell Line AML12 to Study Hepatic Metabolism In Vitro.
Methods in molecular biology (Clifton, N.J.)Bioinformatics-led identification of pathophysiological hallmark genes in diabesotension via graph clustering method.
Journal of diabetes and metabolic disordersAssociações
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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.
- Hepatic GAPDH prevents excessive fasting-induced steatosis via serine-dependent inhibition of diacylglycerol synthesis.
- A label-free microLC-SWATH-MS methodology with immunoaffinity depletion of highly abundant serum proteins for quantitative proteomic comparison of fresh-frozen human normal breast tissue and tumor clinical specimens.
- Activation of phosphoenolpyruvate carboxykinase increases intracellular glucose levels in podocytes under hyperglycemic conditions.
- Triptolide Inhibits Renal Fibrosis Through Promotion of PGC1α/PCK1-mediated Renal Gluconeogenesis.
- Chronic intermittent hypoxia reshapes circadian metabolic architecture in a model of sleep apnea.
- Urinary metabolomics and proteomics for early detection of gastric cancer: insights from a two-center multicenter study.
- Development of Thieno[2,3-b]pyridin-6(7H)-one derivatives against drug-resistant Mycobacterium tuberculosis.
- Experimental chronic fetal hyperglucagonemia stimulates hepatic pathways for amino acid catabolism and gluconeogenesis.
- Exogenous glucocorticoid dose impacts circulating microRNA expression in patients with adrenal insufficiency due to 21-hydroxylase deficiency.
- Shengdihuang Xiyangshen Zhimu Cangzhu Formula Improves Hepatic Glycogen Synthesis via the JNK/c-Jun/IRS1/GSK3β Signaling Pathway.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:79177(Orphanet)
- MONDO:0019225(MONDO)
- GARD:18956(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55788547(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
