Doença metabólica hereditária que tem como base a interrupção do processo metabólico de aminoácidos da família das serinas.
Introdução
O que você precisa saber de cara
Doença metabólica hereditária que tem como base a interrupção do processo metabólico de aminoácidos da família das serinas.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 96 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 256 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
8 genes identificados com associação a esta condição.
Catalyzes the reversible oxidation of 3-phospho-D-glycerate to 3-phosphonooxypyruvate, the first step of the phosphorylated L-serine biosynthesis pathway. Also catalyzes the reversible oxidation of 2-hydroxyglutarate to 2-oxoglutarate and the reversible oxidation of (S)-malate to oxaloacetate
Phosphoglycerate dehydrogenase deficiency
An autosomal recessive inborn error of L-serine biosynthesis, clinically characterized by congenital microcephaly, psychomotor retardation, and seizures.
The glycine cleavage system catalyzes the degradation of glycine. The H protein (GCSH) shuttles the methylamine group of glycine from the P protein (GLDC) to the T protein (GCST). Has a pivotal role in the lipoylation of enzymes involved in cellular energetics such as the mitochondrial dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex (DLAT), and the mitochondrial dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase com
Mitochondrion
Multiple mitochondrial dysfunctions syndrome 7
An autosomal recessive disorder biochemically characterized by glycine accumulation in body fluids, including the cerebrospinal fluid, with an elevated cerebrospinal fluid/plasma glycine ratio. The broad clinical spectrum ranges from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, limited verbal communication, behavioral problems, seizures and variable movement problems. Death in infancy or early childhood may occur.
The glycine cleavage system catalyzes the degradation of glycine. The P protein (GLDC) binds the alpha-amino group of glycine through its pyridoxal phosphate cofactor; CO(2) is released and the remaining methylamine moiety is then transferred to the lipoamide cofactor of the H protein (GCSH)
Mitochondrion
Non-ketotic hyperglycinemia
Autosomal recessive disease characterized by accumulation of a large amount of glycine in body fluid and by severe neurological symptoms.
Catalyzes the last irreversible step in the biosynthesis of L-serine from carbohydrates, the dephosphorylation of O-phospho-L-serine to L-serine (PubMed:12213811, PubMed:14673469, PubMed:15291819, PubMed:25080166, PubMed:9222972). L-serine can then be used in protein synthesis, to produce other amino acids, in nucleotide metabolism or in glutathione synthesis, or can be racemized to D-serine, a neuromodulator (PubMed:14673469). May also act on O-phospho-D-serine (Probable)
Cytoplasm, cytosol
Phosphoserine phosphatase deficiency
An autosomal recessive disorder that results in pre- and postnatal growth retardation, moderate psychomotor retardation and facial features suggestive of Williams syndrome.
Sodium-coupled antiporter of neutral amino acids. In a tri-substrate transport cycle, exchanges neutral amino acids between the extracellular and intracellular compartments, coupled to the inward cotransport of at least one sodium ion (PubMed:24808181, PubMed:27272177, PubMed:34630942, PubMed:8910405). Exchanges neutral amino acids such as L- and D-serine, L-threonine, L-asparagine and L-alanine in a bidirectional way (PubMed:14502423, PubMed:26041762, PubMed:27272177, PubMed:34630942, PubMed:81
Cell membraneMelanosome membrane
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
A neurodevelopmental disorder characterized by thin corpus callosum, severe progressive microcephaly, severe intellectual disability, seizures, spasticity, and global developmental delay. Most patients are unable to achieve independent walking or speech.
Involved in L-serine biosynthesis via the phosphorylated pathway, a three-step pathway converting the glycolytic intermediate 3-phospho-D-glycerate into L-serine (PubMed:36851825, PubMed:37627284). Catalyzes the second step, that is the pyridoxal 5'-phosphate-dependent transamination of 3-phosphohydroxypyruvate and L-glutamate to O-phosphoserine (OPS) and alpha-ketoglutarate (PubMed:36851825, PubMed:37627284). Acts as an inhibitor of ferroptosis in response to interferon-gamma (IFNG) by promotin
Phosphoserine aminotransferase deficiency
Characterized biochemically by low plasma and cerebrospinal fluid concentrations of serine and glycine and clinically by intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation.
Sodium- and chloride-dependent glycine transporter (PubMed:8183239). Essential for regulating glycine concentrations at inhibitory glycinergic synapses Sodium- and chloride-dependent glycine transporter Sodium- and chloride-dependent glycine transporter
Cell membrane
Glycine encephalopathy with normal serum glycine
An autosomal recessive, severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy.
The glycine cleavage system catalyzes the degradation of glycine
Mitochondrion
Glycine encephalopathy 2
A form of glycine encephalopathy, a metabolic disorder characterized by a high concentration of glycine in the body fluids. Affected individuals typically have severe neurological symptoms, including seizure, lethargy, and muscular hypotonia soon after birth. Most of them die within the neonatal period. Atypical cases have later disease onset and less severely affected psychomotor development.
Variantes genéticas (ClinVar)
1,150 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
5 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Doença do metabolismo da serina ou da glicina
Centros de Referência SUS
21 centros habilitados pelo SUS para Doença do metabolismo da serina ou da glicina
Centros para Doença do metabolismo da serina ou da glicina
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
NUPAD / Faculdade de Medicina UFMG
Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital de Clínicas da Universidade Federal de Pernambuco
Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital Universitário Onofre Lopes (HUOL)
Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570
Atenção Especializada
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
Instituto da Criança e do Adolescente (ICr-HCFMUSP)
Av. Dr. Enéas Carvalho de Aguiar, 647 - Cerqueira César, São Paulo - SP, 05403-000 · CNES 2081695
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
XsMYB58 regulates XsLACS8 to promote the accumulation of seed oil in Yellowhorn.
É importante notar que o artigo fornecido, "XsMYB58 regulates XsLACS8 to promote the accumulation of seed oil in Yellowhorn", não trata de distúrbios do metabolismo da serina ou glicina. Em vez disso, ele foca na genética e regulação da produção de óleo em plantas. Este estudo identificou os genes XsMYB58 e XsLACS8 como reguladores cruciais para o acúmulo de óleo nas sementes de Yellowhorn, uma planta com óleo rico em ácidos graxos insaturados e neurônicos raros. A pesquisa demonstra que XsMYB58 ativa diretamente XsLACS8, aumentando significativamente o conteúdo e o rendimento do óleo, com melhorias observadas em plantas transgênicas. Para pacientes e médicos, essa descoberta pode indiretamente levar à produção mais eficiente e abundante de óleos vegetais com perfis nutricionais aprimorados, úteis na alimentação e potencialmente como fonte de ácidos graxos benéficos.
🇧🇷 traduzidoGender-specific effects of sodium benzoate on cognitive improvement in individuals with dementia: a meta-analysis of randomized controlled trials.
Uma meta-análise de ensaios clínicos randomizados revelou que o benzoato de sódio melhora significativamente a cognição em pacientes com demência ou comprometimento cognitivo leve. Este benefício foi mais pronunciado em mulheres, e o efeito do benzoato de sódio não foi influenciado pelo uso concomitante de outros medicamentos para demência. Estes achados sugerem um novo tratamento potencial para a disfunção cognitiva, especialmente em pacientes femininas.
🇧🇷 traduzidoA cell cycle-dependent transition of acetylation to phosphorylation regulates timely centrosome maturation.
Este estudo descreve um mecanismo fundamental para a divisão celular correta, onde uma transição de modificação em uma proteína (RNF40) é essencial para o amadurecimento dos centrossomos. Se essa transição falhar, a divisão celular ocorre de forma incorreta, levando à morte celular. Para médicos e pacientes, compreender esse controle molecular é crucial, pois desregulações na divisão celular são a base de doenças como o câncer, sugerindo possíveis novos alvos terapêuticos para manipular ou restaurar esse processo vital.
🇧🇷 traduzidoA soybean EIN transcription factor confers resistance to Phytophthora sojae and favorable agronomic traits.
É importante notar que o artigo fornecido **não aborda distúrbios do metabolismo de serina ou glicina** em humanos ou animais, nem tem relevância direta para pacientes ou médicos nesse contexto. O resumo do artigo científico trata exclusivamente da planta soja e sua resistência a patógenos agrícolas. Baseado no resumo do artigo científico fornecido (e não no título sobre metabolismo de serina/glicina): Um fator de transcrição na soja, o GmPEIN3, foi identificado como capaz de aumentar a resistência da planta ao patógeno *Phytophthora sojae*, ao mesmo tempo em que melhora características agronômicas importantes para o rendimento. Ele opera modulando a sinalização do etileno e os sistemas de defesa antioxidante da soja. Esta descoberta oferece um alvo genético promissor para desenvolver variedades de soja que sejam simultaneamente mais resistentes a doenças e de alta produtividade agrícola.
🇧🇷 traduzidoCatabolism of extracellular glutathione supplies cysteine to support tumours.
Este estudo revela que a glutationa (GSH) presente no ambiente externo aos tumores, e não apenas a interna, é uma fonte vital de aminoácidos, especialmente cisteína, para o crescimento tumoral. A inibição das enzimas gama-glutamiltransferases (GGTs), responsáveis pela quebra dessa glutationa extracelular, demonstrou reduzir os níveis de cisteína nos tumores e desacelerar seu crescimento. Isso sugere uma nova e promissora estratégia terapêutica para pacientes com câncer, focando em privar os tumores desses nutrientes essenciais.
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Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica[Transcriptomics and cell experiments reveal regulatory effect of jatrorrhizine on SAT1-mediated ferroptosis in colorectal cancer cell].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica[Effects of Acanthopanax senticosus extract on Parkinson's disease mice via untargeted lipidomics across multiple brain regions].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica[Advantageous therapeutic pathways and mechanisms of Jianpi Huogu Formula in treating steroid-induced osteonecrosis of femoral head based on multi-source heterogeneous data integration of disease-syndrome-formula framework].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medicaGALNT3 Inhibits the Progression of Cerebral Ischemia-Reperfusion Injury by Stabilizing TREM2 via O-GalNAc Glycosylation.
CNS neuroscience & therapeuticsD-serine and D-alanine supplementation protects against chronic kidney disease.
Scientific reportsCSRP3 promotes skeletal muscle remodeling toward aerobic metabolism and enhances exercise endurance through increasing LDHD activity.
Metabolism: clinical and experimentalA superoxide-driven pathway in the manganese cycle: Biogenic oxidation of Mn(II) by Pseudomonas sp. QJX-1 under glyphosate exposure.
Ecotoxicology and environmental safetyA Stress Response Kinase Cascade Is Conserved in Arabidopsis and Modulated by a Parasite Effector.
Molecular plant-microbe interactions : MPMIFibroblast-activation protein inhibitors based positron emission tomography (PET) for assessing lung disease: A systematic review with meta-analysis.
PulmonologyDistinct polyp recurrence timing and STK11 mutation status underlie clinical heterogeneity in pediatric Peutz-Jeghers syndrome.
Journal of pediatric gastroenterology and nutritionMitochondrial metabolism restoration via Tramiprosate suppresses mitochondrial ROS-driven foamy macrophage senescence post spinal cord injury.
Journal of orthopaedic translationGlycine receptors in circulating white blood cells regulated by neuroinflammation.
Frontiers in immunologyGranzyme B from mast cells contributes to choroidal neovascularization in a model of wet age-related macular degeneration.
Frontiers in immunologyDrip irrigation reduces upward translocation of heavy metals in soybeans by enhancing root retention and inhibiting xylem transport.
The Plant journal : for cell and molecular biologyTDP-43 pathology triggers neuroinflammation and cognitive impairment by inducing microglial necroptosis.
EMBO molecular medicineThe CDKL5 kinase undergoes liquid-liquid phase separation driven by a serine-rich C-terminal region.
Life science allianceNAD+ hydrolysis catalyzed by SelO is required for mitochondrial homeostasis.
CellGlycine regulates in vitro nutrient sensing of porcine oocytes through AMPK-mTORC1.
TheriogenologyAnalysis of the mechanism of MKK4 participating in heat stress response in Mytilus coruscus.
Marine environmental researchMdRLKT1-MdRAX2-MdMKS1 Module Positively Regulating Resistance to Cytospora mali in Apple.
Plant biotechnology journalORMDL Proteins Turnover via Proteasome and Autophagy Is Cell-Type Dependent and Tied to Ceramide Homeostasis.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyMechanistic insights into lenacapavir-induced off-pathway HIV-1 capsid assembly.
Proceedings of the National Academy of Sciences of the United States of AmericaCrystal structure of Vibrio cholerae polysaccharide lyase RbmB bound to Vibrio polysaccharide (VPS) fragments provides insights into substrate recognition and cleavage.
Proceedings of the National Academy of Sciences of the United States of AmericaSpecific Metabolites Modulate Core Microbes and Microbial Interactions to Drive Fomesafen Dissipation in the Soybean Rhizosphere.
Journal of agricultural and food chemistryCofilin hyperphosphorylation triggers TDP-43 pathology in sporadic amyotrophic lateral sclerosis.
Brain : a journal of neurologyEngineering glyphosate tolerance in sugarcane through overexpression of a mutated version of its native EPSPS gene.
GM crops & foodMultifunctional Glycine-Carbon Dots Protect Against Arsenic Hepatotoxicity Through Redox Balance and PI3K/AKT Activation.
International journal of nanomedicineCircadian oscillations in chromatin accessibility systematically orchestrate rhythmic gene transcription in soybean.
The Plant cellParthenolide Attenuates Skeletal Muscle Atrophy Through Regulation of Protein Homeostasis and Inhibition of Inflammation.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyDRP1/DMNL-1-mediated mitochondrial fission augments Rickettsia parkeri replication in macrophages.
Infection and immunityANXA1-mediated mTOR/FABP4 Inhibition Drives Antifibrotic Macrophage Reprogramming in Lupus Nephritis.
International journal of biological sciencesA guide to selecting high-performing antibodies for Alpha-1-antitrypsin (UniProt ID: P01009) for use in western blot, immunoprecipitation and flow cytometry.
F1000ResearchWenyang Decoction Ameliorates DSS-Induced Ulcerative Colitis by Regulating Macrophage Polarization and the PI3K/AKT/mTOR/HIF-1α Signaling Pathway.
Mediators of inflammationTargeting the proline-glycine-proline-protease feed-forward loop attenuates primary graft dysfunction after lung transplantation.
Frontiers in immunologyCo-Administration Dosing of Ceftazidime-Avibactam and Aztreonam in Patients with Varying Renal Function for CRE Infections via Monte Carlo Simulation.
Infection & chemotherapyGlyphosate promotes calcium oxalate crystal-induced renal injury by modulating the PI3K/Akt-mediated mechanism.
Ecotoxicology and environmental safetyPesticide exposure among organic and conventional smallholder farmers in Costa Rica and Uganda: biomarker evidence on exposure determinants.
The Lancet. Planetary healthCirculating Rhythmic Metabolites and Causal Risk of Type 2 Diabetes in Adults in the Canadian Longitudinal Study on Aging.
Diabetes, obesity & metabolism[Clinical application of PI3K/AKT/mTOR pathway testing in breast cancer].
Zhonghua bing li xue za zhi = Chinese journal of pathologyEffect of solid-state fermentation on protein content, amino acid digestibility and anti-nutritional components of common beans, lentils and chickpeas.
Food research international (Ottawa, Ont.)SGK1 inhibition restores excitability of cortical neurons derived from Alzheimer's disease patients.
Neurobiology of diseaseDual Stress Postischemia Deprivation Depression via Metabolic Disturbance in Rodents.
The Journal of surgical researchUntargeted LC-MS-based metabolic fingerprinting of Escherichia coli-associated urinary tract infections and urosepsis: Insights into the urine, serum, and bacterial interactomes.
Journal of pharmaceutical and biomedical analysisEarly Development of Ocadusertib, a Selective Receptor-Interacting Serine/Threonine-Protein Kinase 1 Inhibitor.
Clinical and translational scienceMiro1 in Parkinson's Disease: A Key Regulator of Mitochondrial Homeostasis and Neurodegeneration.
Neuromolecular medicineInteraction between transient receptor potential vanilloid 4 and glutamate NMDA receptor subunit 1 mediates endoplasmic reticulum stress and neuroinflammation in postoperative delirium.
Molecular biomedicineProline/serine-rich coiled-coil 1 alleviates atherosclerosis via remodeling tryptophan metabolism mediated by Akkermansia muciniphila.
Experimental & molecular medicineThe larvicide temephos decreases the fertilization rate of rat spermatozoa by altering different processes of the acrosome reaction and actin polymerization.
Food and chemical toxicology : an international journal published for the British Industrial Biological Research AssociationLysine succinylation-mediated energy metabolism imbalance drives brain injury in acute diquat poisoning.
Toxicology and applied pharmacologyMolecular evidence of Japanese encephalitis virus in poultry: Need to further elucidate JEV epidemiology.
Comparative immunology, microbiology and infectious diseasesThe expression of tyrosine kinase and threonine promotes the progression of lung adenocarcinoma and is linked to a negative prognosis.
MedicineGenome-wide characterization of soybean alcohol dehydrogenase (ADH) genes identifies GmADH13 as a positive regulator of the salt stress response.
TAG. Theoretical and applied genetics. Theoretische und angewandte GenetikAll-atom simulations reveal distinct pathways for αIIbβ3 activation by biochemical vs. mechanical cues.
Cellular and molecular life sciences : CMLSAssessment of ROS1 Gene Rearrangement in Non-Small Cell Lung Cancer: Concordance Between ROS1 SP384 Immunohistochemistry and ROS1 FISH Assay in a Single Center in Türkiye.
Turk patoloji dergisiThe metabolic mechanisms of formaldehyde in the roots, stems and leaves of Dieffenbachia maculata.
International journal of phytoremediationPrognostic role of systemic inflammatory indices in predicting the severity of acute calculous cholecystitis.
Ulusal travma ve acil cerrahi dergisi = Turkish journal of trauma & emergency surgery : TJTESmTOR signaling pathway in primary Sjögren's syndrome: Pathogenesis and potential therapeutic targets (Review).
International journal of molecular medicineCharacteristics of chromosomal instability‑related lncRNAs associated with progression and prognosis in breast cancer.
Molecular medicine reportsExploratory multi-omics analysis of gut microbiota and fecal metabolites in relation to serum S-equol levels in older adults with osteoporosis from a tropical community: a pilot study.
Frontiers in nutritionTomato-Soy Juice Reduces Inflammation and Modulates the Urinary Metabolome in Adults With Obesity.
Molecular nutrition & food researchGut microbiota dysbiosis and metabolic abnormalities promote oxidative stress and fibrosis in idiopathic pulmonary fibrosis.
Scientific reportsLRRK2 kinase mediates increased GCase activity in microglia in response to IFNγ-induced proinflammatory stimulation.
NPJ Parkinson's diseaseGenetic variations interact with polybrominated diphenyl ether exposure to alter lipid homeostasis.
Nature communicationsA Nuclear Effector of Magnaporthe oryzae Targets a Mitogen-Activated Protein Kinase to Suppress Basal Plant Defense.
Molecular plant-microbe interactions : MPMIThe mechanism of oxidative stress induced by nanoplastics in Caenorhabditis elegans: Integrated analysis of transcriptomics and metabolomics.
Comparative biochemistry and physiology. Toxicology & pharmacology : CBPCharacterization of the TREM-1 signaling landscape in human neutrophils.
PloS oneMetabolic and behavioral effects of neurofibromin result from differential recruitment of MAPK and mTOR signaling.
PLoS geneticsImmunogenicity of SARS-CoV-2 vaccine prototype based on virus-like particles of hepatitis B core antigen from genotype G and interleukin 12 expressing Semliki Forest virus as a genetic adjuvant.
The Journal of general virologyIntegration of proxy intermediate omics traits into a nonlinear two-step model for accurate phenotypic prediction.
TAG. Theoretical and applied genetics. Theoretische und angewandte GenetikUnderstanding plant resilience by putting photosynthesis and photorespiration in the metabolic context.
PlantaComplex interplay of riboregulatory mechanisms at the gcvT-NGFG_01513-gcvH operon of Neisseria gonorrhoeae.
Journal of bacteriologyDefining the human lung pathodegradome of the V8 protease from Staphylococcus aureus.
Infection and immunityPlatelet mTOR Is a Regulator of Sterile Immunothrombosis.
Arteriosclerosis, thrombosis, and vascular biologyRole of LRRK2 in physiological activities, diseases, and therapy.
Chinese medical journalChanges in levels of endocannabinoidome mediators in mice with cancer cachexia: links with steatosis and gut microbial dysbiosis.
BJC reportsConvergent evolutionary shifts in AGT targeting between mitochondria and peroxisomes across mammal transitions to herbivory.
Nature communicationsThe signaling pathways of atherosclerosis regulated by Taohong Siwu Decoction.
Chinese journal of natural medicinesCrossover Versus Ostial Single-stent Implantation for Ostial Left Circumflex Artery Lesions: the Multicenter CROSS-LCX Registry.
The Canadian journal of cardiologyLarge Airway Bronchial Wash Lipidomics as Novel Biomarkers for Chronic Lung Allograft Dysfunction.
The Journal of thoracic and cardiovascular surgeryThe bile acid-CoA ligase, FATP5, is necessary for synthesis of N-acyl taurines in the liver.
Journal of lipid researchComprehensive first-trimester targeted metabolomics for early prediction and understanding of GDM pathophysiology.
Frontiers in molecular biosciencesUntargeted metabolomics reveals immune-metabolic signatures in established cases of rheumatoid arthritis.
Frontiers in molecular biosciencesSex-based multiomics analysis uncovers metabolic and molecular mediators linking MASH and atherosclerosis.
JHEP reports : innovation in hepatologySalt-Inducible Kinase as a Predictive Biomarker in Laryngeal Squamous Cell Carcinoma: Insights into Treatment Efficacy and Patient Survival.
Nigerian journal of clinical practiceSPINK2 silencing suppresses leukemic proliferation and restores myeloid commitment via MECOM downregulation in acute myeloid leukaemia.
Cell death discoveryAssociation of mitochondrial genetic background with pS65-Ub in Lewy body disease.
Acta neuropathologicaUltra-performance liquid chromatography-mass spectrometry analysis of post-mortem brain tissue reveals specific amino acid profile dysregulation in Parkinson's disease and Alzheimer's disease patients.
NPJ Parkinson's diseaseA tri-responsive sensor based on co-encapsulated organic probes and multifunctional bimetallic V/Ce-MOF nanozyme in a hydrogel for the detection of l-Serine in saliva.
TalantaCollectin-11 regulates osteoclastogenesis and bone maintenance via a complement-dependent mechanism.
Proceedings of the National Academy of Sciences of the United States of AmericaAssessment of physical status and analysis of lipidomic and metabolomic alterations in patients with Post-COVID-19 condition.
PloS oneTrimethoprim: bactericidal or bacteriostatic activity is dependent on bacterial growth conditions.
Journal of medical microbiologyRevisiting the Nutritional and Health-Promoting Properties of Soy Protein-Based Food Formulations for Infants and Adults.
Comprehensive reviews in food science and food safetySaltiness Enhancement Modulated by Hydrophobic Mucoadhesion of Soy Hull Pectic-Like Polysaccharides within a Salivary Mucin Layer.
Journal of agricultural and food chemistryGlycyl-l-histidyl-l-lysine as a novel co-former in co-amorphous systems: Enhanced aqueous solubility and physical stability.
European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical SciencesIxazomib triggers autophagic degradation of MUC5AC/integrin-β4 and inhibits non-small cell lung cancer progression.
Cancer lettersClimate-driven divergence in biophysical and economic impacts of agrivoltaics.
Proceedings of the National Academy of Sciences of the United States of AmericaConstitutive activation of TGF-β receptor type I promotes cortical and cancellous bone formation in adult mice.
PloS oneTherapeutic Effects of Gualou Guizhi Antispasmodic Granules on Spasticity and PANoptosis in a Rat Model of Spinal Cord Injury.
Journal of visualized experiments : JoVES-equol producing bacteria: isolation and identification from Albino Wistar rat gut microbiota.
Applied microbiology and biotechnologyImidazole Propionate Induces Kidney Damage by Activating the ROS-NLRP3 Signaling Pathway Through mTOR Inhibition of Autophagy in Renal Tubular Epithelial Cells.
Mediators of inflammationViral mechanisms, tropism, and clinical relevance regarding the ophthalmic manifestations of SARS-CoV-2 infection.
International journal of ophthalmologyALDH1L2 orchestrates redox-growth coupling in renal carcinoma: pan-cancer evidence and mechanistic validation of the ROS-Akt/mTOR/S6K axis.
Frontiers in immunologyN-acetyl-l-leucine lowers α-synuclein levels and improves synaptic function in Parkinson's disease models.
The Journal of clinical investigationLipid Pocket Binders Impose Allosteric Changes of Protein Dynamics Around the Active Site of the Protein Kinase p38α.
Angewandte Chemie (International ed. in English)Symbiosis Islands of Bradyrhizobium Determine Relationships with Host Legumes Lespedeza cuneata and Glycine max.
Microbes and environmentsEngineering Escherichia coli for high-level poly(3-hydroxybutyrate) production: Recent advances and future perspective.
Biotechnology advancesAssociações
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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.
- XsMYB58 regulates XsLACS8 to promote the accumulation of seed oil in Yellowhorn.
- Gender-specific effects of sodium benzoate on cognitive improvement in individuals with dementia: a meta-analysis of randomized controlled trials.
- A cell cycle-dependent transition of acetylation to phosphorylation regulates timely centrosome maturation.
- A soybean EIN transcription factor confers resistance to Phytophthora sojae and favorable agronomic traits.
- Catabolism of extracellular glutathione supplies cysteine to support tumours.
- A mitochondrial-neuroinflammation-D-serine connection in epilepsy.
- Network pharmacology analysis of integration of dietary plant-derived natural flavonoids and gut microbiota for the treatment of Polycystic Ovary syndrome (PCOS).
- Ursodeoxycholic Acid Alleviates DSS/AOM-Induced Colorectal Cancer in Mice by Inhibiting PI3K/Akt/mTOR Signaling Pathway.
- TEM-based Study of the Phenotype of Astrocytes Differentiated from Induced Pluripotent Stem Cells from a Healthy Donor and a Patient with Parkinson's Disease.
- Discovery and research progress of CDK8 inhibitors.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:79194(Orphanet)
- MONDO:0019239(MONDO)
- GARD:18968(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55788559(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
