Raras
Buscar doenças, sintomas, genes...
Doença da gliconeogênese
ORPHA:79177DOENÇA RARA

Doença metabólica hereditária que tem como base a interrupção da gliconeogênese.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Doença metabólica hereditária que tem como base a interrupção da gliconeogênese.

Publicações científicas
14.444 artigos
Último publicado: 2026
🏥
SUS: Sem cobertura SUSScore: 0%
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

🧠
Neurológico
23 sintomas
🫘
Rins
10 sintomas
📏
Crescimento
9 sintomas
🫃
Digestivo
9 sintomas
🫁
Pulmão
5 sintomas
👁️
Olhos
4 sintomas

+ 70 sintomas em outras categorias

Características mais comuns

Concentração elevada de alanina aminotransferase circulante
Anorexia
Contato visual reduzido
Apatia
Aumento da concentração de alanina no LCR
Citrulina plasmática elevada
138sintomas
Sem dados (138)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 138 características clínicas mais associadas, ordenadas por frequência.

Concentração elevada de alanina aminotransferase circulanteElevated circulating alanine aminotransferase concentration
Anorexia
Contato visual reduzidoReduced eye contact
ApatiaApathy
Aumento da concentração de alanina no LCRIncreased CSF alanine concentration

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1
Total histórico14.444PubMed
Últimos 10 anos200publicações
Pico2025135 papers
Linha do tempo
2025Hoje · 2026🧪 1999Primeiro ensaio clínico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

6 genes identificados com associação a esta condição.

CA5ACarbonic anhydrase 5A, mitochondrialDisease-causing germline mutation(s) inTolerante
FUNÇÃO

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)

LOCALIZAÇÃO

Mitochondrion

VIAS BIOLÓGICAS (1)
Reversible hydration of carbon dioxide
MECANISMO DE DOENÇA

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.

INTERAÇÕES PROTEICAS (2)
OUTRAS DOENÇAS (1)
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
HGNC:1377UniProt:P35218
PCK2Phosphoenolpyruvate carboxykinase [GTP], mitochondrialCandidate gene tested inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Mitochondrion

VIAS BIOLÓGICAS (1)
Gluconeogenesis
MECANISMO DE DOENÇA

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.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Fígado
126.5 TPM
Intestino delgado
62.5 TPM
Linfócitos
56.4 TPM
Fibroblastos
44.7 TPM
Cólon transverso
35.3 TPM
OUTRAS DOENÇAS (2)
phosphoenolpyruvate carboxykinase deficiencyphosphoenolpyruvate carboxykinase deficiency, mitochondrial
HGNC:8725UniProt:Q16822
GKGlycerol kinaseCandidate gene tested inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Mitochondrion outer membraneNucleusCytoplasm, cytosol

VIAS BIOLÓGICAS (1)
Triglyceride biosynthesis
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Sangue
25.9 TPM
Pulmão
14.9 TPM
Fígado
14.3 TPM
Fibroblastos
10.3 TPM
Linfócitos
9.6 TPM
OUTRAS DOENÇAS (3)
inborn glycerol kinase deficiencyglycerol kinase deficiency, adult formglycerol kinase deficiency, juvenile form
HGNC:4289UniProt:P32189
PCK1Phosphoenolpyruvate carboxykinase, cytosolic [GTP]Disease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Cytoplasm, cytosolEndoplasmic reticulum

VIAS BIOLÓGICAS (5)
GluconeogenesisFOXO-mediated transcription of oxidative stress, metabolic and neuronal genesTranscriptional regulation of white adipocyte differentiationAbacavir metabolismNR1H2 & NR1H3 regulate gene expression linked to gluconeogenesis
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Fígado
530.0 TPM
Rim - Córtex
147.6 TPM
Adipose Visceral Omentum
71.4 TPM
Rim - Medula
63.5 TPM
Tecido adiposo
62.3 TPM
OUTRAS DOENÇAS (2)
phosphoenolpyruvate carboxykinase deficiency, cytosolicphosphoenolpyruvate carboxykinase deficiency
HGNC:8724UniProt:P35558
PCPyruvate carboxylase, mitochondrialDisease-causing germline mutation(s) inRestrito
FUNÇÃO

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

LOCALIZAÇÃO

Mitochondrion matrix

VIAS BIOLÓGICAS (2)
Defective HLCS causes multiple carboxylase deficiencyBiotin transport and metabolism
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Fígado
115.0 TPM
Tecido adiposo
48.7 TPM
Cerebelo
48.2 TPM
Cérebro - Hemisfério cerebelar
45.6 TPM
Adipose Visceral Omentum
41.1 TPM
OUTRAS DOENÇAS (4)
pyruvate carboxylase deficiency diseasepyruvate carboxylase deficiency, benign typepyruvate carboxylase deficiency, infantile formpyruvate carboxylase deficiency, severe neonatal type
HGNC:8636UniProt:P11498
FBP1Fructose-1,6-bisphosphatase 1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

VIAS BIOLÓGICAS (1)
Gluconeogenesis
MECANISMO DE DOENÇA

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.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Fígado
341.4 TPM
Pulmão
138.9 TPM
Intestino delgado
77.7 TPM
Rim - Córtex
76.5 TPM
Estômago
63.9 TPM
OUTRAS DOENÇAS (1)
fructose-1,6-bisphosphatase deficiency
HGNC:3606UniProt:P09467

Variantes genéticas (ClinVar)

342 variantes patogênicas registradas no ClinVar.

🧬 CA5A: GRCh37/hg19 16q24.2-24.3(chr16:87640702-89570635)x1 ()
🧬 CA5A: GRCh37/hg19 16q24.1-24.2(chr16:85281141-88194304)x1 ()
🧬 CA5A: NM_001739.2(CA5A):c.434T>C (p.Val145Ala) ()
🧬 CA5A: NM_001739.2(CA5A):c.472C>T (p.His158Tyr) ()
🧬 CA5A: GRCh37/hg19 16q11.2-24.3(chr16:46432879-90294753)x3 ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

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.
3Fase 31
1Fase 13
·Pré-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 5 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Doença da gliconeogênese

🗺️

Selecione um estado ou use sua localização para ver resultados.

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

🟢 Recrutando agora

3 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

0 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Hepatic GAPDH prevents excessive fasting-induced steatosis via serine-dependent inhibition of diacylglycerol synthesis.

Cell death and differentiation2026 Mar 17

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.

🇧🇷 traduzido
#2

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.

Frontiers in molecular biosciences2026

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.

🇧🇷 traduzido
#3

Activation of phosphoenolpyruvate carboxykinase increases intracellular glucose levels in podocytes under hyperglycemic conditions.

Biochimica et biophysica acta. Molecular cell research2026 Mar 04

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.

🇧🇷 traduzido
#4

Triptolide Inhibits Renal Fibrosis Through Promotion of PGC1α/PCK1-mediated Renal Gluconeogenesis.

Frontiers in bioscience (Landmark edition)2026 Feb 10

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.

🇧🇷 traduzido
#5

Chronic intermittent hypoxia reshapes circadian metabolic architecture in a model of sleep apnea.

Science advances2026 Feb 27

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.

🇧🇷 traduzido

Publicações recentes

Ver todas no PubMed

📚 EuropePMC1 artigos no totalmostrando 200

2026

Hepatic GAPDH prevents excessive fasting-induced steatosis via serine-dependent inhibition of diacylglycerol synthesis.

Cell death and differentiation
2026

Ferroptosis-driven metabolic reprogramming in macrophages: Reshaping glucose utilization landscapes.

Chinese medical journal
2026

Transcription Factors in Type 2 Diabetes: Molecular Mechanisms of Insulin Resistance and β-Cell Dysfunction.

Current diabetes reviews
2026

Metformin: Antidiabetic actions from cells to tissues.

Metabolism: clinical and experimental
2026

Untargeted Metabolomic and Lipidomic Profiling in Cystic Fibrosis Patients Using UPLC-QTOF-MS.

Journal of proteome research
2026

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.

Frontiers in molecular biosciences
2026

Salvianolic acid C alleviates acute kidney injury by restoring fructose-1,6-bisphosphatase 1-mediated gluconeogenesis.

Renal failure
2026

Activation of phosphoenolpyruvate carboxykinase increases intracellular glucose levels in podocytes under hyperglycemic conditions.

Biochimica et biophysica acta. Molecular cell research
2026

Mechanistic insights into the regulation of glucose‒lipid metabolism by the bioactive constituents of ginseng.

Journal of ginseng research
2026

Hyperpolarized [U-2H, 2-13C]Fructose Distinguishes Direct Hepatic Gluconeogenesis Through Fructose-1-Phosphate Production in Fed and Fasted States.

ACS chemical biology
2026

Triptolide Inhibits Renal Fibrosis Through Promotion of PGC1α/PCK1-mediated Renal Gluconeogenesis.

Frontiers in bioscience (Landmark edition)
2026

Circulating Asprosin Concentrations and Body Weight Changes in Postmenopausal Women: Findings from the Women's Health Initiative.

The Journal of nutrition
2026

Black Sesame Pigment Ameliorates Non-Alcoholic Fatty Liver Disease via Modulation of the Gut-Liver Axis and HIF-1 Signaling Pathway.

Antioxidants (Basel, Switzerland)
2026

Spatio-temporal analysis deciphers the energy metabolism disorders in depression based on stable isotope-resolved metabolomics.

Journal of pharmaceutical and biomedical analysis
2026

Chronic intermittent hypoxia reshapes circadian metabolic architecture in a model of sleep apnea.

Science advances
2026

Multi-omics-based study on the biological characteristics of kidney renal deficiency and blood stasis in ankylosing spondylitis.

Journal of traditional Chinese medicine = Chung i tsa chih ying wen pan
2026

Rare variant analyses provide insights into the genetic architecture of endometriosis.

Human genomics
2026

Non-enzymatic ABHD6 interacts with Akt-FoxO1 axis to regulate selective hepatic insulin resistance.

bioRxiv : the preprint server for biology
2026

The relationship between acromegaly and hepatic steatosis: insights from FibroScan imaging.

Journal of endocrinological investigation
2026

Dietary chromium picolinate-promoted oxidative phosphorylation may be a potential mean to improve hypoxia tolerance of juvenile grass carp (Ctenopharyngodon idella).

Animal nutrition (Zhongguo xu mu shou yi xue hui)
2026

Trial Interviews to Explore Glycogen Storage Disease Type Ia Patient Experiences Following Gene Therapy.

Journal of health economics and outcomes research
2026

Plasma metabolomics reveals distinct metabolic alterations and biomarkers of disease activity in HLA-B27-positive acute anterior uveitis.

Eye (London, England)
2026

Integrative metabolomics and lipidomics reveal Jian-Pi-Yi-Shen formula improves adenine-induced CKD rats by regulating intrarenal glycolipid metabolism.

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

Metabolic surgery mitigates early kidney injury in obese youth with diabetes by suppressing mTORC1/JAK-STAT signaling.

The Journal of clinical investigation
2026

Integrated proteomic profiling of serum, follicular fluid and ovarian tissue in dairy cows with inactive ovaries.

BMC veterinary research
2026

NMR metabolomic profiling of cerebrospinal fluid from dogs with meningoencephalitis of unknown origin demonstrates metabolic similarities to multiple sclerosis.

Metabolomics : Official journal of the Metabolomic Society
2026

Enhanced lysosomal glycogen breakdown is associated with liver tumorigenesis in glycogen storage disease type III.

JHEP reports : innovation in hepatology
2026

Altered rumen bacterial flora is associated with increased lipogenesis of adipose tissue in obese dairy cows before calving.

Microbiome
2026

Chronic NH4Cl loading improves glucose tolerance without modifying insulin sensitivity in mice.

Scientific reports
2025

(p)ppGpp mediates persister formation in Escherichia coli during glucose to fatty acid shift.

Frontiers in microbiology
2026

Sex‑specific cardiovascular risk in estrogen‑treated androgen‑deprived males: metabolic characterization of glucose, adipose, and lipid pathways.

Cardiovascular diabetology
2026

Effects of the FXR agonist GW4064 on metabolic disorders in db/db mice.

Laboratory animal research
2026

Structural insight into the glucose-6-phosphate transport by G6PT1 and inhibition mechanism of CGA.

Science advances
2026

SCFAs' pleiotropic role in pathogenesis and salutogenesis: mechanisms in exacerbation and regulation of inflammation and fibrosis from gut to host.

Journal of medical microbiology
2026

A Novel PCK1 Gene Variant Associated With Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency: Two Siblings With Different Clinical Presentations.

JIMD reports
2025

Effects of Dietary Supplementation with Dihydromyricetin on Hindgut Microbiota and Metabolite Profiles in Dairy Cows.

Microorganisms
2026

An Herbal Formula Alleviates Lipotoxicity and Glucotoxicity by Regulating AMPK/SIRT1 in Zucker Diabetic Fatty Rats.

Endocrine, metabolic & immune disorders drug targets
2026

NMR-based metabolomics in a clinical cohort: deciphering the metabolic characteristics of gout with the dampness-heat syndrome and elucidate the efficacy of Simiao Pill.

Chinese medicine
2026

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

American journal of medical genetics. Part A
2026

Improving erectile function in diabetic male mice by rescuing depalmitoylated FBP1 to reduce cavernosal lactate.

Nature communications
2026

Synergistic Therapeutic Potential of Curcumin and Metformin: a Multipathway Approach to Disease Management.

The Journal of nutrition
2026

Salvianolic acid C protects against sepsis-associated acute kidney injury through promotion of PGC1α-mediated renal gluconeogenesis.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2026

Exploring the therapeutic potential of Anoectochilus roxburghii in glucose and lipid metabolism disorder: From phenotypic effects to molecular mechanisms and network pharmacology.

Journal of pharmaceutical and biomedical analysis
2026

Chronic high-fat diet induces multi-organ dysfunction and metabolic homeostasis disruption in Macaca fascicularis.

Animal models and experimental medicine
2026

BMSC-derived extracellular vesicles affect gluconeogenesis and lipogenesis by releasing 5'-tRF-GlyCCC to improve MAFLD insulin sensitivity.

Cell biology and toxicology
2025

[Mechanism of Trichosanthis Pericarpium in treating intermingled phlegm and blood stasis syndrome of coronary heart disease based on transcriptomics and metabolomics].

Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica
2026

Insufficient or Excessive Niacin Intake Induced Glucose and Lipid Metabolic Disorders and Impaired Liver Health in Nile Tilapia.

Aquaculture nutrition
2026

IRP1 deficiency alters mitochondrial metabolism and protects against metabolic syndrome pathologies.

JCI insight
2026

Primate gut microbiota induce evolutionarily salient changes in mouse neurodevelopment.

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

Fenitrothion exposure induces hyperglycemia in juvenile rats: Impeded glycolysis and promoted gluconeogenesis mediated by acetyl-CoA and oxaloacetate metabolism dysregulation.

Journal of hazardous materials
2026

MicroRNA-mediated regulation of hepatic metabolism in pregnancy: current understanding and future perspectives.

Molecular biology reports
2026

N-nitrosodimethylamine increased glucose production by promoting hyperglycemia in hepatocyte via AMPK signaling pathway in vivo and in vitro.

Drug and chemical toxicology
2025

Metabolic changes after hepatectomy: Implications for perioperative management and long-term outcomes.

World journal of gastrointestinal pathophysiology
2026

β-caryophyllene mitigates metabolic dysfunction in the testes of gerbils perinatally exposed to BPA.

Reproductive toxicology (Elmsford, N.Y.)
2025

Berberine: A Rising Star in the Management of Type 2 Diabetes-Novel Insights into Its Anti-Inflammatory, Metabolic, and Epigenetic Mechanisms.

Pharmaceuticals (Basel, Switzerland)
2026

A Somatic Mutation in HIF-2α Affects Glucose and Lipid Metabolism via CD36 and Ceramide.

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

Primate-specific sperm lnc-CLCN7 reveals embryo quality in IVF.

Acta biochimica et biophysica Sinica
2025

Eurotium cristatum Ameliorates Glucolipid Metabolic Dysfunction of Obese Mice in Association with Regulating Intestinal Gluconeogenesis and Microbiome.

Foods (Basel, Switzerland)
2026

The function of the alternative oxidase gene in the tolerance of Fusarium graminearum to azoxystrobin.

Pesticide biochemistry and physiology
2025

Ganzhirong Granule Inhibits Hepatic Gluconeogenesis through the SIRT3-MPC1-PC/PDH Axis in Type 2 Diabetes.

Journal of visualized experiments : JoVE
2026

Giardiavirus rewires host translation and glycolytic metabolism to support its replication in Giardia duodenalis.

Virulence
2025

Functional genomics reveals strain-specific genetic requirements conferring hypoxic growth in Mycobacterium intracellulare.

eLife
2026

Impaired hepatic metabolism in Hereditary Fructose Intolerance confers fructose-independent risk for steatosis and hypertriglyceridemia.

Molecular metabolism
2025

Processed silkworm powder (Hongjam) ameliorates metabolic dysfunction-associated steatotic liver disease via GPR35/PKA and SIRT1/AMPK pathways.

Frontiers in nutrition
2025

The fate of pyruvate dictates cell growth by modulating cellular redox potential.

eLife
2025

Grain proteins ameliorate glucose metabolism disorders by activating intestinal AhR and the hepatic NLK/FOXO1 pathway via gut microbiota-derived indole metabolites.

Journal of advanced research
2026

Chronic nanoplastics exposure drives lung cancer progression through ATF3/PCK2 axis-mediated rewiring of truncated gluconeogenesis.

Journal of hazardous materials
2025

Emerging Roles of Post-Translational Modifications in Metabolic Homeostasis and Type 2 Diabetes.

International journal of molecular sciences
2025

Proteomic profiles of Lissachatina (Heterobranchia) and Pomacea (Caenogastropoda) snails infected with Angiostrongylus cantonensis using 4D label-free quantitative analysis.

PLoS neglected tropical diseases
2025

Distal small bowel resection with preservation of the terminal ileum suppresses hepatic gluconeogenesis via the Prevotellaceae_NK3B31_group-mediated 7-KLCA-FXR axis.

World journal of gastroenterology
2025

The Functionality of the Cysteinyl Leukotriene Receptor 1 (CysLTR1) in the Lung by Metabolomics Analysis of Bronchoalveolar Lavage Fluid.

Research square
2025

FBP1 promotes ABCG2-mediated uric acid excretion through activation of the PI3K/AKT/CREB signaling pathway.

Scientific reports
2026

A structurally distinct neutral polysaccharide from Polygonatum odoratum (Mill.) Druce improves hyperglycemia via the PI3K-AKT-GSK3β/FoxO1 signaling pathway.

Journal of ethnopharmacology
2025

Epigallocatechin-3-gallate supplementation regulates glucose redistribution through its potential endogenous receptor in grass carp (Ctenopharyngodon idella).

Animal nutrition (Zhongguo xu mu shou yi xue hui)
2025

FATP2 at the crossroads of fatty acid transport, lipotoxicity, and complex disease.

The Journal of clinical investigation
2025

The beneficial effect of hepatic ER stress-associated protein PDI on obesity-associated glucose dysregulation.

Nutrition & metabolism
2025

Transcriptome Analysis of the Pathogenic Mechanism of the Novel Pathogenic Fungus Bipolaris fujianensis in Chinese Fir (Cunninghamia lanceolata) Shoot Blight.

Biology
2025

Chromogranin A and catestatin regulate pancreatic islet homeostasis, endocrine function, and neurotransmitter signaling.

Communications biology
2025

Chronic Intermittent Low-Pressure Hypoxia Suppresses Inflammation and Regulates Glycolipids by Modulating Mitochondrial Respiration in db/db Mice.

Metabolites
2025

Design and rationale for a pilot trial of D-alanine supplementation to reduce the triglyceride to high-density lipoprotein cholesterol ratio in patients with chronic kidney disease.

BMC nephrology
2026

Ginsenoside Rh2 mitigates hepatic gluconeogenesis by regulating Akt/FoxO1 pathway in type 2 diabetic mice.

International immunopharmacology
2025

Proteomic Signatures of Dental Enamel Hypomineralization: Divergent Molecular Pathways in Coal-Burning vs. Drinking-Water Fluorosis.

Biological trace element research
2026

Increased Serum Levels of LDHA and TPI1 in Patients With Polycystic Ovary Syndrome.

Proteomics. Clinical applications
2025

Metabolic dysregulation in MASLD-associated HCC: diagnostic biomarkers and therapeutic opportunities.

Frontiers in medicine
2025

SHP1 overexpression ameliorates renal fibrosis via inhibition of STAT3 signaling and glycolysis reprogramming.

Scientific reports
2026

Integrated analysis of DNA methylation and transcriptome profiles in broiler heart and lung tissues reveals epigenetic regulatory mechanisms underlying ascites syndrome.

Poultry science
2025

Neural network modelling of experimental diabetes to study new antidiabetic drugs.

Drug metabolism and personalized therapy
2025

Temporal Dynamics of the Plasma Proteomic Landscape Reveals Maladaptation in ME/CFS Following Exertion.

Molecular & cellular proteomics : MCP
2025

Exercise reshapes gut microbiota to ameliorate core symptoms in PCOS: molecular mechanisms and therapeutic implications.

Frontiers in endocrinology
2025

RNA sequencing analysis in chicken spleen infected with Newcastle disease virus reveals genotype-specific immune response.

BMC genomics
2025

Potential Health Effects of the Natural Alkaloid Berberine: A Narrative Review.

Nutrition reviews
2025

Application of a Non-Targeted Metabolomics Study in Plasmodium berghei-Infected Rats: Towards Unravelling Metabolic Alterations During Malaria Infection.

International journal of molecular sciences
2025

Association of fructose-1,6-diphosphatase 1 with the progression of diabetic kidney disease.

Nutrition & metabolism
2025

ACLY facilitates alanine flux in the livers of db/db mice: a hyperpolarized [1-13C]pyruvate MRS study.

Frontiers in endocrinology
2025

Mup3 ameliorates the dysregulation of glucose and lipid metabolism in MAFLD.

Acta pharmacologica Sinica
2025

Comparative transcriptomics of naturally susceptible and resistant Trypanosoma cruzi strains in response to Benznidazole.

International journal for parasitology. Drugs and drug resistance
2025

Relationship between hepatic lipid accumulation and type 2 diabetes mellitus.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
2025

Interplay between age, APOE Ɛ4 and the metabolome in plasma and brain in Alzheimer's disease.

Translational psychiatry
2025

Innovative Therapeutic Approaches Targeting Obesity: Can Flavonoids Improve the Efficacy of Anti-Obesogenic Drugs?

International journal of molecular sciences
2025

Triglycerides, Glucose Metabolism, and Type 2 Diabetes.

International journal of molecular sciences
2025

Exosomal miRNAs Mediate Immune-Metabolic Interactions in the Hemocytes of the Pearl Oyster Pinctada fucata martensii.

Animals : an open access journal from MDPI
2025

Precision Probiotics Regulate Blood Glucose, Cholesterol, Body Fat Percentage, and Weight Under Eight-Week High-Fat Diet.

Metabolites
2025

p53 regulates glucose metabolic reprogramming in MASLD-related hepatocellular carcinoma via modulating mitochondrial pyruvate carriers.

Hepatology international
2025

Golgi-associated TRAF6 as a regulator of protein convertase FURIN for insulin receptor precursor processing.

Science China. Life sciences
2026

LGALS3BP Induces Insulin Resistance via TLR2-IKKα/β Pathway-Mediated IRS1 Serine Phosphorylation.

Endocrinology and metabolism (Seoul, Korea)
2026

Polygalae Radix extracts show anti-Parkinson's disease effects and reduce depression-like symptoms by modulating energy metabolism.

Journal of ethnopharmacology
2025

Curcumin for the treatment of pituitary adenomas: the potential of a single agent for multifaceted therapeutic effects.

Frontiers in endocrinology
2025

Cobalt exposure increases fasting plasma glucose by inhibiting hepatic glycogen synthesis and enhancing gluconeogenesis.

Journal of hazardous materials
2025

The regulatory and synergistic effects of FBP2 and HKDC1 on glucose metabolism and malignant progression in gastric cancer.

Cell death & disease
2025

From Diabetes to Degenerative Diseases: The Multifaceted Action of Metformin.

International journal of molecular sciences
2025

Glucagon acutely stimulates hepatic gluconeogenesis.

Peptides
2025

Humanized monoacylglycerol acyltransferase 2 mice on a high-fat diet exhibit impaired liver detoxification during metabolic dysfunction-associated steatotic liver disease.

PloS one
2025

Comparative transcriptome analysis reveals potential candidate genes for resistance to Edwardsiella tarda in turbot (Scophthalmus maximus).

Journal of fish biology
2025

Berberine's impact on health: Comprehensive biological, pharmacological, and nutritional perspectives.

Metabolism open
2025

Hyperbaric oxygen treatment mitigates gut dysbiosis of mice with spinal cord injury.

Journal of molecular medicine (Berlin, Germany)
2025

Glucose-6-phosphatase catalytic subunit 3 enhances host resistance to porcine epidemic diarrhea virus through regulating glycolysis/gluconeogenesis.

The veterinary quarterly
2025

Single-cell multi-omics dissection of c-Myb/AURKA-mediated autophagy and metabolic reprogramming in diabetic adipose-derived stem cells.

Frontiers in immunology
2025

Novel insights into the hepatoprotective mechanisms of SGLT2 inhibitor empagliflozin in Zucker diabetic fatty rats.

Frontiers in pharmacology
2025

Asprosin as a regulator of hepatic lipogenesis and its association with hepatic steatosis.

Journal of lipid research
2025

Ethyl acetate extract of Sargentodoxa cuneata and Patrinia villosa alleviates pelvic inflammation by shifting macrophages polarization.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2026

Transcriptome Analysis of Penaeus vannamei Hepatopancreas in Response to Lactococcus garvieae Infection in Low Salinity.

Journal of fish diseases
2025

Salt-sensitive hypertension promotes neuronal mitochondrial stress and neurodegenerative alterations via neuro-vascular metabolic reprogramming and local RAS signaling.

Journal of neuroinflammation
2025

Systematic metabolomic study on the plasma and urine of a mouse model of Alport syndrome.

Scientific reports
2025

Regulation of airway fumarate by host and pathogen promotes S. aureus pneumonia.

bioRxiv : the preprint server for biology
2025

Dysregulation of cellular metabolism within the gut-brain axis is associated with behavioural changes in chronic intestinal inflammation.

Journal of neuroinflammation
2025

Acute Toxoplasma gondii Infection Drives Gut Microbiome Dysbiosis and Functional Disruption in Mice as Revealed by Metagenomic Sequencing.

Microorganisms
2025

Nicotinamide N-Methyltransferase in Cardiovascular Diseases: Metabolic Regulator and Emerging Therapeutic Target.

Biomolecules
2025

Role of the Th2-like Immune Response in Obesity: IL-4 as a Metabolic Regulator and IL-13 as an Effector of Muscle Energy Metabolism.

Biomedicines
2025

The physiology of MASLD: molecular pathways between liver and adipose tissues.

Clinical science (London, England : 1979)
2025

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

Journal of molecular histology
2025

Berberine: A Bitter Phytochemical With Diversely Sweet Therapeutic Properties.

Nutrition reviews
2025

Redox-dependent liver gluconeogenesis impacts different intensity exercise in mice.

Nature metabolism
2025

The First Reported Albanian Patient With Fructose-1,6-Bisphosphatase Deficiency: A Rare Disorder of Fructose Metabolism.

Case reports in medicine
2025

Lactate as an Exercise Mimetic: Mitigating Disuse Atrophy and Improving Muscle Endurance in Aging SAMP8 Mice.

Molecular and cellular biology
2025

Fatty acid transport protein 2 inhibition enhances glucose tolerance through α cell-mediated GLP-1 secretion.

The Journal of clinical investigation
2025

The functionally conserved human lncRNA motif GULF lowers glucose and lipid levels in obese mice.

The Journal of clinical investigation
2025

Brain histaminergic system: An emerging target for the treatment of feeding and eating-related disorders.

Pharmacological research
2025

Comparative Analysis of the Fecal Proteome in Two Canine Breeds: Dalmatians and Weimaraners.

International journal of molecular sciences
2025

Degraded 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)
2025

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.

Diabetologia
2025

Gut Microbiota Dysbiosis Remodels the Lysine Acetylome of the Mouse Cecum in Early Life.

Biology
2025

Amygdala-liver signalling orchestrates glycaemic responses to stress.

Nature
2026

Hepatic Glucocorticoid Receptor Action and Glucose Homeostasis.

Endocrine reviews
2025

Metabolic rewiring of isoniazid sensitivity in Mycobacterium tuberculosis.

Proceedings of the National Academy of Sciences of the United States of America
2025

Lactate lactylation in neural pathophysiology: Bridging metabolism and neurodegeneration.

Neuroscience
2026

Jiangtang 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 targets
2025

ATP8B1 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 Liver
2025

α-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 endocrinology
2025

Mitochondrial dysfunction and metabolic reprogramming in acute kidney injury: mechanisms, therapeutic advances, and clinical challenges.

Frontiers in physiology
2025

Syzygium samarangense fruit extract attenuates hyperglycemia in type 2 diabetic rats through modulation of oxidative stress and inflammation.

Biomedical reports
2025

Effects and potential mechanisms of Alismatis Rhizoma extracts on glucose and lipid metabolism: A systematic review and meta-analysis of rodent studies.

Journal of ethnopharmacology
2025

Epizootic shell disease induces systemic transcriptomic shifts in Homarus americanus, characterized by increased shell degradation and impaired energy metabolism across tissues.

Frontiers in physiology
2025

Evaluating neonatal cord serum metabolome in association with adolescent cardiometabolic risk factors.

Pediatric research
2025

Single-cell transcriptomics combined with spatial transcriptomics reveals a fibrotic microenvironment in hyperuricemic nephropathy.

European journal of pharmacology
2025

Treatment 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 Society
2025

Hepatic ENTPD5 Is Critical for Maintaining Metabolic Homeostasis and Promoting Brown Adipose Tissue Thermogenesis.

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

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)
2025

Metformin and Adipose Tissue: A Multifaceted Regulator in Metabolism, Inflammation, and Regeneration.

Endocrinology and metabolism (Seoul, Korea)
2025

Differential Network Analysis Integrates Pathway Mapping to Characterize Dynamic Metabolic Changes in the Progression of Diabetic Complications.

Journal of proteome research
2025

The 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 medicines
2025

Regulation of airway fumarate by host and pathogen promotes Staphylococcus aureus pneumonia.

Nature communications
2025

The Power of Drosophila in Modeling Cancer Cachexia.

Advances in experimental medicine and biology
2025

Polypeptides synthesized by common bacteria in the human gut improve rodent metabolism.

Nature microbiology
2025

Integrated transcriptomic and immune enzymatic analyses uncover coordinated immunometabolic responses in large yellow croaker (Larimichthys crocea) to Metanophrys sp. infection.

Frontiers in immunology
2025

Integrated 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 analysis
2025

Mechanistic insights into postbiotics as therapeutic agents in type 2 diabetes management.

Naunyn-Schmiedeberg's archives of pharmacology
2025

Lipid Hormones at the Intersection of Metabolic Imbalances and Endocrine Disorders.

Current issues in molecular biology
2025

Copper Pyrithione Induces Hepatopancreatic Apoptosis and Metabolic Disruption in Litopenaeus vannamei: Integrated Transcriptomic, Metabolomic, and Histopathological Analysis.

Animals : an open access journal from MDPI
2025

Lactobacillus paragasseri SBT2055 suppressed insulin resistance and fatty liver by inhibiting oxidative stress and inflammation in high-fat diet-induced obese mice.

Beneficial microbes
2025

Integrative analysis of thiamethoxam induced hepatocellular carcinoma toxicity mechanisms.

Scientific reports
2025

Letter "Role of amino acids in the regulation of hepatic gluconeogenesis and lipogenesis in metabolic dysfunction-associated steatotic liver disease".

Clinical and molecular hepatology
2025

Sodium-glucose Cotransporter-2 Canagliflozin's impact on cardiovascular disease in the setting of metabolic syndrome: A proteomic analysis.

European journal of pharmacology
2025

Concerted Actions of FoxO1 and PPARα in Hepatic Gene Expression and Metabolic Adaptation.

Diabetes
2025

Telmisartan reverses hepatic steatosis via PCK1 upregulation: A novel PPAR-independent mechanism in experimental models of MASLD.

Pharmacological research
2025

Integrating 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 medicine
2025

The induced-fit and catalytic mechanisms of human G6PC1.

Cell discovery
2025

TTC36 as a prognostic biomarker in nonmetastatic hepatocellular carcinoma: A TCGA-based cohort study.

Medicine
2025

Multi-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 biochemistry
2025

Phosphoenolpyruvate carboxykinase 1-mediated cataplerosis is required to maintain mitochondrial fitness and to avoid kidney disease progression.

Kidney international
2025

Identification of lipid biomarkers at different stages of breast cancer by rapid evaporative ionization mass spectrometry (REIMS) using syngeneic balb/c mice breast cancer model.

Biochimie
2025

A pharmacological profile of triheptanoin for the treatment of long-chain fatty acid oxidation disorders.

Expert review of clinical pharmacology
2026

Lessons from Glucocorticoids, Metformin, and Dimethyl Fumarate: Could Targeting Immunometabolism Lead to Better Anti-Inflammatory Therapies?

Annual review of pharmacology and toxicology
2025

Role 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 sciences
2025

Aspirin-Inspired 6-O-Carboxymethyl-N-Acetylglucosamine: A potent antitumor agent with enhanced efficacy.

Apoptosis : an international journal on programmed cell death
2025

Incretin-based therapy: An update focusing on the major revolution in cardiovascular-kidney-metabolic health.

Journal of the Chinese Medical Association : JCMA
2025

Integrated proteomics and transcriptomics analysis reveals key regulatory genes between ER-positive/PR-positive and ER-positive/PR-negative breast cancer.

BMC cancer
2025

2'-Fucosyllactose synbiotics with Bifidobacterium bifidum to improve intestinal transcriptional function and gut microbiota in constipated mice.

Food research international (Ottawa, Ont.)
2025

TIMM8B promotes oxidative phosphorylation and glycolysis by inhibiting the mtROS/ASK1/JNK signaling pathway in ovarian cancer.

Biology direct
2025

Gluconeogenesis related gene signatures as biomarkers for nonspecific orbital inflammation.

Scientific reports
2025

Metabolite perturbations in type 1 diabetes associated with metabolic dysfunction-associated steatotic liver disease.

Frontiers in endocrinology
2025

Integration of Transcriptomics and Metabolomics Reveals Mechanisms of High-Temperature Stress Tolerance in the Hepatopancreas of Penaeus monodon.

Biology
2025

The Liver Disease-Related Hypoglycemia: An Overview of the Impact, Management Approaches, and Underlying Mechanisms.

British journal of hospital medicine (London, England : 2005)
2025

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 & proteomics
2025

Hub biomarkers and their clinical relevance in glycometabolic disorders: A comprehensive bioinformatics and machine learning approach.

Chinese medical journal
2025

Transcriptomic profiling and biomarker discovery in pre-eclampsia: An integrated approach leveraging WGCNA and LASSO with ROC validation.

Computational biology and chemistry
2025

Biomicroplastics and Antibiotics: A Toxic Cocktail for Fatty Liver Disease in Marine Medaka.

Environmental science & technology
2025

Thyrotropin exacerbates insulin resistance by triggering macrophage inflammation in subclinical hypothyroidism.

Experimental & molecular medicine
2025

The role of plant-based dietary compounds in gut microbiota modulation in inflammatory bowel disease.

Frontiers in nutrition
2025

Protocol to Use Mouse Hepatocyte Cell Line AML12 to Study Hepatic Metabolism In Vitro.

Methods in molecular biology (Clifton, N.J.)
2025

Bioinformatics-led identification of pathophysiological hallmark genes in diabesotension via graph clustering method.

Journal of diabetes and metabolic disorders

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Doença da gliconeogênese.

É de uma associação que acompanha esta doença? Fale com a gente →

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Doença da gliconeogênese

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

Tire suas dúvidas

Perguntas, dicas e experiências compartilhadas aqui na página

Participe da discussão

Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.

Fazer login

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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. Hepatic GAPDH prevents excessive fasting-induced steatosis via serine-dependent inhibition of diacylglycerol synthesis.
    Cell death and differentiation· 2026· PMID 41844899mais citado
  2. 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.
    Frontiers in molecular biosciences· 2026· PMID 41797989mais citado
  3. Activation of phosphoenolpyruvate carboxykinase increases intracellular glucose levels in podocytes under hyperglycemic conditions.
    Biochimica et biophysica acta. Molecular cell research· 2026· PMID 41791677mais citado
  4. Triptolide Inhibits Renal Fibrosis Through Promotion of PGC1α/PCK1-mediated Renal Gluconeogenesis.
    Frontiers in bioscience (Landmark edition)· 2026· PMID 41761970mais citado
  5. Chronic intermittent hypoxia reshapes circadian metabolic architecture in a model of sleep apnea.
    Science advances· 2026· PMID 41739942mais citado
  6. Urinary metabolomics and proteomics for early detection of gastric cancer: insights from a two-center multicenter study.
    Front Oncol· 2026· PMID 41994646recente
  7. Development of Thieno[2,3-b]pyridin-6(7H)-one derivatives against drug-resistant Mycobacterium tuberculosis.
    Bioorg Med Chem· 2026· PMID 41990416recente
  8. Experimental chronic fetal hyperglucagonemia stimulates hepatic pathways for amino acid catabolism and gluconeogenesis.
    J Endocrinol· 2026· PMID 41988876recente
  9. Exogenous glucocorticoid dose impacts circulating microRNA expression in patients with adrenal insufficiency due to 21-hydroxylase deficiency.
    Front Endocrinol (Lausanne)· 2026· PMID 41987891recente
  10. Shengdihuang Xiyangshen Zhimu Cangzhu Formula Improves Hepatic Glycogen Synthesis via the JNK/c-Jun/IRS1/GSK3β Signaling Pathway.
    J Diabetes Res· 2026· PMID 41983820recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:79177(Orphanet)
  2. MONDO:0019225(MONDO)
  3. GARD:18956(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. 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

Doença da gliconeogênese
Compêndio · Raras BR

Doença da gliconeogênese

ORPHA:79177 · MONDO:0019225
MedGen
UMLS
C1398833
EuropePMC
Wikidata
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades