Um aminoácido essencial ou indispensável é um aminoácido que deve ser incluído na nossa alimentação para manter uma boa saúde. Considere os seguintes aminoácidos: fenilalanina, valina, treonina, triptofano, isoleucina, metionina, leucina, lisina e histidina.
Introdução
O que você precisa saber de cara
Doença rara do metabolismo da ornitina ou prolina, caracterizada por cisterna magna aumentada, neuropatia periférica, fadiga crônica e distúrbios neurológicos. Pode apresentar hiperalaninemia, hipoprolinemia e sintomas gastrointestinais.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 140 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 382 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.
Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine
MitochondrionMitochondrion matrix
Cutis laxa, autosomal recessive, 3A
A syndrome characterized by facial dysmorphism with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit, developmental delay, and ophthalmologic abnormalities.
Oxidoreductase that catalyzes the last step in proline biosynthesis, which corresponds to the reduction of pyrroline-5-carboxylate to L-proline using NAD(P)H (PubMed:16730026, PubMed:19648921, PubMed:23024808, PubMed:28258219). At physiologic concentrations, has higher specific activity in the presence of NADH (PubMed:16730026, PubMed:23024808). Involved in the cellular response to oxidative stress (PubMed:16730026, PubMed:19648921)
Mitochondrion
Cutis laxa, autosomal recessive, 2B
A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Patients do not manifest metabolic abnormalities.
Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:32001091, PubMed:33065002). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (PubMed:32001091)
Apical cell membraneCytoplasmic vesicle, secretory vesicle, synaptic vesicle membraneCytoplasmic vesicle, clathrin-coated vesicle membrane
Cutis laxa, autosomal recessive, 2C
A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. Most ARCL2C patients exhibit severe hypotonia as well as cardiovascular involvement.
Converts proline to delta-1-pyrroline-5-carboxylate
Mitochondrion matrix
Hyperprolinemia 1
An inborn error of proline metabolism resulting in elevated levels of proline in the plasma and urine. The disorder is generally benign and most affected individuals are clinically asymptomatic. Some patients, however, have neurologic manifestations, including epilepsy and intellectual disability. Association with certain forms of schizophrenia have been reported.
Catalyzes the reversible interconversion of L-ornithine and 2-oxoglutarate to L-glutamate semialdehyde and L-glutamate
Mitochondrion matrix
Hyperornithinemia with gyrate atrophy of choroid and retina
A disorder clinically characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy. Characteristic chorioretinal atrophy with progressive constriction of the visual fields leads to blindness at the latest during the sixth decade of life. Patients generally have normal intelligence.
Irreversible conversion of delta-1-pyrroline-5-carboxylate (P5C), derived either from proline or ornithine, to glutamate. This is a necessary step in the pathway interconnecting the urea and tricarboxylic acid cycles. The preferred substrate is glutamic gamma-semialdehyde, other substrates include succinic, glutaric and adipic semialdehydes
Mitochondrion matrix
Hyperprolinemia 2
An inborn error of proline metabolism resulting in elevated plasma levels of proline and delta-1-pyrroline-5-carboxylate (P5C). The condition is considered to be benign, but affected individuals can exhibit neurological manifestations that vary in severity. Clinical signs include seizures, intellectual deficit and mild developmental delay.
Catalytic subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:8463241). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (PubMed:32001091). In aerobic conditions, invol
CytoplasmCytoplasm, cytosolCytoplasmic vesicle, secretory vesicleCytoplasmic vesicle, clathrin-coated vesicle membraneLysosome
Cutis laxa, autosomal recessive, 2D
A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. Most ARCL2D patients exhibit severe hypotonia as well as cardiovascular and neurologic involvement.
Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (By similarity). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (By similarity). Essential component of the endosomal pH-s
Cell membraneEndosome membrane
Cutis laxa, autosomal recessive, 2A
A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Some affected individuals develop seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. At the molecular level, an abnormal glycosylation of serum proteins is observed in many cases.
Variantes genéticas (ClinVar)
412 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 do metabolismo da ornitina ou da prolina
Centros de Referência SUS
21 centros habilitados pelo SUS para Doença do metabolismo da ornitina ou da prolina
Centros para Doença do metabolismo da ornitina ou da prolina
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
Volatile monoterpenes improve PM2.5 phytoremediation of cigarette smoke in Episcia cupreata (Gesneriaceae) by upregulation of cytokinins and osmoprotectants.
O artigo fornecido foca na melhoria da capacidade de plantas ornamentais (Episcia cupreata) em remover poluição do ar (PM2.5 de fumaça de cigarro), e *não em distúrbios do metabolismo de ornitina ou prolina em humanos*. Para pacientes e médicos, a informação mais relevante é que monoterpenos voláteis, como limoneno e eucaliptol, podem significativamente aumentar a eficiência das plantas na remoção de PM2.5 do ar interno. Essa técnica de "priming" nas plantas pode, portanto, ser uma estratégia promissora para melhorar a qualidade do ar em ambientes fechados, o que indiretamente beneficia a saúde respiratória e geral ao reduzir a exposição a poluentes.
🇧🇷 traduzidoNitrogen-mediated improvement of ionic homeostasis and antioxidant capacity enhances rice yield and nitrogen use efficiency under soda saline-alkali stress.
Este artigo científico foca na melhoria da produtividade do arroz em solos salino-alcalinos de sódio e não possui relevância direta para pacientes ou médicos, pois trata de agronomia e fisiologia vegetal. O estudo demonstrou que a aplicação otimizada de fertilizante nitrogenado (275 kg ha-1) é crucial para aumentar significativamente o rendimento do arroz, melhorando o equilíbrio iônico, a capacidade antioxidante e a eficiência de uso do nitrogênio nas plantas.
🇧🇷 traduzidoMechanisms of CARMIL dimerization, autoinhibition, and capping protein binding.
O artigo (que foca na regulação da proteína CARMIL e da actina, e não em desordens do metabolismo de ornitina/prolina) demonstra que a CARMIL atua controlando a dinâmica da actina nas células, processo fundamental para o movimento, forma e função celular. Ele revela que a CARMIL é "auto-inibida" e identifica um "módulo antena" que regula sua atividade; mutações nesse módulo ou em outras regiões da proteína alteram o comportamento celular, como o aumento da área ou a formação de estruturas na membrana. Para médicos e pacientes, a compreensão desses mecanismos é crucial porque a desregulação da actina e de proteínas como a CARMIL está associada a diversas condições patológicas, incluindo câncer (especialmente metástase), doenças neurológicas e do desenvolvimento. Este conhecimento pode, no futuro, guiar o desenvolvimento de novas abordagens terapêuticas ao mirar especificamente a função da CARMIL.
🇧🇷 traduzidoBacillus amyloliquefaciens induces autophagy-mediated defense, phytohormonal modulation, and metabolic reprogramming in Oryza sativa to counteract Rhizoctonia solani sheath blight.
Este artigo científico foca-se na defesa de plantas, especificamente em como a bactéria *Bacillus amyloliquefaciens* ajuda o arroz (*Oryza sativa*) a resistir a uma doença fúngica (queima da bainha). Ele detalha mecanismos como a autofagia e a modulação hormonal para aumentar a resistência do arroz, mas **não possui relevância direta para a saúde humana, pacientes ou médicos**, sendo um estudo puramente voltado para a fitopatologia e agricultura.
🇧🇷 traduzidoCoordinated Antioxidant and Physiological Responses at Flowering Promote Yield Stability in Salinity-Stressed Barley Genotypes.
Este artigo científico investiga como a cevada (uma planta) responde ao estresse por salinidade na fase de floração, identificando que a coordenação entre defesas antioxidantes (como fenólicos e vitamina E) e reguladores osmóticos (como prolina e açúcares) é crucial para a resiliência da planta e para manter a produtividade. O estudo oferece marcadores fisiológicos valiosos para o melhoramento genético de plantas, visando aumentar a tolerância da cevada ao sal. No entanto, o conteúdo deste artigo *não apresenta informações diretamente aplicáveis ou relevantes para a saúde de pacientes humanos ou para a prática médica*.
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JHEP reports : innovation in hepatologySerum Prolidase Activity and its Association with Oxidative Stress and Inflammation in Silicosis.
Nigerian journal of clinical practiceNano-enabled enhancement of salt stress tolerance in barley using chitosan-selenium nanoparticles: physiological and molecular insights.
Scientific reportsUltra-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 diseaseRed Blood Cell Metabolomic Signatures in β-Thalassemia Heterozygotes With Elevated HbA1c: Implications for Biomarkers and Personalized Medicine.
Journal of diabetes science and technology[Hepatic encephalopathy from cholangitis in a young patient with ornithine transcarbamylase mutation].
Revista medica del Instituto Mexicano del Seguro SocialMultilayer Timing of Cardiac Circadian Regulation Informs Prevention and Treatment of Cardiovascular Disease.
Vascular health and risk managementLoss of Nonhematopoietic Osteopontin Weakens the Intestinal Barrier and Alters the Microbiome and Metabolome in Mice.
Gastro hep advancesPathway thermodynamic analysis postulates change in glutamate metabolism as a key factor in modulating immune responses.
Immunometabolism (Cobham, Surrey)Hyperammonemia-Associated Stroke-Like Episodes and Acute Liver Failure in an 11-Month-Old Infant With Probable Ornithine Transcarbamylase Deficiency: Diagnostic and Therapeutic Challenges in a Resource-Limited Setting.
CureusMetabolomics biomarkers for precision psychiatry.
Frontiers in psychiatryIntegrated pathological assessment and multi-omics analysis of the effects of Pinellia ternata aqueous extract on lung and spleen dysfunction in a rat model of phlegm-dampness obstruction.
Journal of ethnopharmacologyNontargeted screening identifies mixtures of environmental pollutants that are associated with perturbations to amino acid and fatty acid metabolic pathways during early pregnancy.
Environment internationalHeat-induced regulation on metabolite biosynthesis improves antioxidant capacity and nutritional quality of black highland barley (Hordeum vulgare L.).
Food research international (Ottawa, Ont.)RlTTG1 isolated from Rosa laevigata Michx. regulates trichome development and stress response in transgenic Arabidopsis.
Plant science : an international journal of experimental plant biologyAged polyethylene microplastics modulate herbicide and antibiotic bioavailability and plant responses: A case study with glyphosate and tetracycline.
Ecotoxicology and environmental safetyEffect of two-doses of 3-Nitrooxypropanol (3-NOP) on methane emissions, performance, rumen microbiome, and metabolomics in Nellore cattle.
Journal of animal scienceExplore the potential mediating role of plasma metabolites and cytokines in the causal relationship between gut microbiota and the severity of immune-related adverse events: A Mendelian randomization study.
MedicineThe causal association between plasma amino acid levels and abdominal aortic aneurysm: insights from Mendelian randomization and an experimental validation.
European journal of pharmacologyC-type natriuretic peptide pre-maturation culture affects cytoplasmic maturation in bovine oocytes†.
Biology of reproductionGraphene Oxide Enhances Drought Tolerance in Apple by Promoting ROS Scavenging and Regulating Amino Acid Contents.
Physiologia plantarumP4HA2 Participates in Pathogenesis of Refractive Error by Regulating Collagen Posttranslational Modification and Extracellular Matrix Balance.
Human mutationPolyamine metabolic enzyme SAT1 remodels the neuronal transcriptome and rescues α-synuclein toxicity in Drosophila.
Research squareSerum amino acid levels are associated with brain hypometabolism in patients across the Alzheimer's disease continuum.
IBRO neuroscience reportsProlyl tRNA Synthetase Is Required for Mammarenavirus Multiplication.
VirusesModulation of Grapevine Physiological Performance by Compost and Vermicompost Obtained from Vine Pruning Residues.
Plants (Basel, Switzerland)Prolyl 3-Hydroxylase 2 Supports a Pro-Angiogenic Milieu Promoting Colorectal Cancer Progression and Metastasis.
International journal of molecular sciencesHigh Oleic Acid Diet Promotes Growth and Muscle Metabolic Remodeling in Eriocheir sinensis: Multi-Omics Insight into Lipid Deposition and Nutrient Quality.
International journal of molecular sciencesDifferential Metabolic Changes in Zebrafish Embryos Are Induced by Discontinued Citalopram Exposure.
BiomedicinesEarly Growth and Serum Metabolic Profiling of One-Month-Old MSTN-Knockout Xinjiang Brown Cattle via CRISPR/Cas12Mix.
Animals : an open access journal from MDPIDietary Sources of Glycine Betaine and Proline Betaine in Plant Foods and Their Potential Biological Relevance in Human Nutrition.
Foods (Basel, Switzerland)Ovary-specific transcriptomes and the essential role of vitelline membrane protein 26Ab in embryonic desiccation resistance and female fertility of Zeugodacus tau.
International journal of biological macromoleculesSalinity stress in rice: mechanisms and molecular approaches to mitigation.
PlantaLower serum threonine and glutamine levels could be a predictor for multiple sclerosis in pregnancy.
Scandinavian journal of clinical and laboratory investigationLigand Radicals Tune LPMO Activity in Model Complex.
Inorganic chemistryUntargeted Metabolomics of Human Airway Epithelium Reveals Neuroactive Signatures Linked to Pulmonary Neuroendocrine Cell Enrichment and Allergen Exposure.
MetabolitesWidely Targeted Liver Metabolomics Reveals Potential Biomarkers in Mice with Drug-Induced Liver Injury.
MetabolitesEnhanced Biocontrol of Root-Knot Nematodes Through Co-Cultivation of Clonostachys rosea and Bacillus velezensis: Proline-Driven Bacterial Fitness and Synergistic Metabolite Production.
Journal of fungi (Basel, Switzerland)Hormonal modulation alleviates heavy metal toxicity in wheat (Triticum aestivum L.) by regulating redox balance, cellular integrity, and growth dynamics.
Physiology and molecular biology of plants : an international journal of functional plant biologyNucleosome spacing regulates linker methylation by DNMT3A2/3B3.
Molecular cell[Effect of moxibustion at "Zusanli" (ST36) on amino acid metabolism of knee cartilage in KOA rats].
Zhongguo zhen jiu = Chinese acupuncture & moxibustionProline-Mediated Inhibition of ATPIF1-mTOR Signaling Alleviates Radiation-Induced Macrophage Polarization and Colon Inflammation.
InflammationA gated hydrophobic funnel within BAX binds bioactive lipids to potentiate pro-apoptotic function.
Nature communicationsFunctional characterization of the quinoa transcription factor CqBBX28 in drought stress response.
International journal of biological macromoleculesA cyclic nucleotide-gated channel gene HcCNGC11 positively regulates salt stress responses in kenaf (Hibiscus cannabinus L.).
Plant molecular biologyModulation of arsenic uptake and detoxification in maize (Zea mays L.) by plant-based iron oxide nanoparticles.
BiodegradationPlant-Beneficial Streptomyces thermocarboxydus S3 Mitigates Heat Stress in Hydroponically Grown Lettuce.
ScientificaInvestigating hypoxia-inducible factor signaling in cancer: Mechanisms, clinical implications, targeted therapeutic strategies, and resistance.
Cancer pathogenesis and therapyPotential survival strategies of novel comammox and nitrite-oxidizing Nitrospira synthesizing osmoprotectants in a wastewater microbiome treating high-ammonia brackish landfill leachate.
MicrobiomeIdentification of Inhibitors for eIF5A2-Dependent Translation Elongation by Monitoring the Translational Efficiency of Polyproline Motif in Mitochondrial Fission Regulator 1.
Biological & pharmaceutical bulletinFolding Thermodynamics and Kinetics of the N-Terminal Domain of the Circadian Clock-Regulated Histidine Kinase SasA.
Chembiochem : a European journal of chemical biologyExpanding the Molecular Scope of Photo-CIDNP for Nanomolar 19F NMR Detection of Amines.
Journal of the American Chemical SocietySeasonal and Environmental Influences on Free Sugar and Amino Acid Profiles of Lycium barbarum Berries Cultivated in Southern Tuscany.
Food science & nutritionA Complex Case of Ornithine Transcarbamylase Deficiency in a Patient With Severe Comorbid Conditions.
Clinical case reportsNutrient microenvironments reprogram RPE metabolism.
bioRxiv : the preprint server for biologyDendrogenomic resilience mechanisms of two endangered Mexican spruces.
Plant diversityThe optimal dietary crude protein level improves goat production performance by enhancing the body's antioxidant function and energy metabolism.
Frontiers in microbiologyMicrobiome- metabolome signatures and Behavioral alterations in a progressive MPTP-induced mouse model of Parkinson's disease.
Experimental neurologyA novel role of the SQDG synthase gene in Eucommia ulmoides SQD2 in drought tolerance: Lipid remodeling, chloroplast protection, and antioxidant regulation in transgenic tobaccos.
Plant physiology and biochemistry : PPBUnraveling the role of polyamine metabolism in postoperative delirium: insights into biochemical mechanisms and biomarker potential.
npj agingProline, a privileged fragment in drug design: advances and future perspectives.
European journal of medicinal chemistryNontargeted metabolomics analysis of potential biomarkers for patients with chronic ischemic stroke in extremely cold rural regions: An exploratory case-control study.
PloS oneStructural Aspects of Proline Methanologues in Drug Design, Optimization, and Development.
The Journal of organic chemistryThe integration of plasma non-target metabolomics and lipidomics analysis for the discovery of global developmental delay/intellectual disability biomarkers.
Frontiers in cellular neuroscienceAnalysis of the dynamic metabolic changes during the ripening of wolfberry (Lycium barbarum L.) fruits by theta-nano-extractive electrospray ionization mass spectrometry.
Food chemistry: XMaternal Toxoplasma gondii Infection Perturbs Foetal and Maternal Foetal Interface Metabolism, Exposing the Foetus to Kynurenine.
British journal of biomedical scienceMorphological, physiological, and transcriptomic analysis of Taxodium mucronatum under different salinity stresses.
Frontiers in plant scienceAkkermansia muciniphila reduces neuroinflammation and Aβ deposition via tryptophan metabolism in the APP/PS1 mouse model of Alzheimer's disease.
Alzheimer's research & therapyPhysiological and metabolic responses of dill to nano-silica and nano-zinc under drought stress: implications for yield and essential oil quality.
BMC plant biologyDevelopment and validation of a robust UPLC-MS/MS method for the analysis of polyamines in cells, biofluids and tissues.
Journal of pharmaceutical and biomedical analysisIntegrated proteomic and phosphoproteomic analysis reveals the MAPK cascade as a key regulator of ethylene-induced latex production in Hevea brasiliensis.
Stress biologyMicrobiome-Metabolomics Reveals the Bidirectional Associations Between Aging and Depression.
Indian journal of microbiologyBiochar: Acinetobacter driven rhizoremediation of arsenic contaminated soil.
Environmental geochemistry and healthQuantification of D-Amino Acids in Type 1 Diabetes-Affected Human Serum.
Journal of the American Society for Mass SpectrometryIntegrated transcriptomic and metabolomic profiling deciphers breed-, age-, and rearing system-dependent regulation of muscle development and meat quality in chickens.
Food chemistry. Molecular sciencesEffect of equine-derived Lactobacillus M11 on the reproductive performance of KM pregnant female mice.
Frontiers in microbiologyIntegrated transcriptome and metabolome reveal nano-selenium-mediated low temperature tolerance in lettuce (Lactuca sativa var. italica).
Plant physiology and biochemistry : PPBEnhancement of γ-Aminobutyric Acid (GABA) Content in Germinated Soybeans through Glutamate and Cold Stress Treatments.
Journal of agricultural and food chemistryTargeted serum metabolomics reveals alterations in amino acid and neurotransmitter pathways in Parkinson's disease.
The AnalystAdaptive Laboratory Evolution of Baker's Yeast for Improved Trehalose Accumulation and Freeze-Thaw Tolerance.
Journal of agricultural and food chemistryGyrate atrophy of the choroid and retina: a tertiary center experience.
Orphanet journal of rare diseasesAllelopathic and autotoxic effects of sorghum extract and residues on seed behavior, and morphological, physiological, and biochemical responses of several plants.
Scientific reportsHLA-B27-associated gut microbiota and amino acid perturbations promote ankylosing spondylitis through M1 macrophage activation.
Gut microbesProgrammable Multiplexed Proteomics via Sequence-Encoded Mass Tagging.
Analytical chemistryNanopriming with Silicon Quantum Dots Strengthens Wheat Drought Tolerance through Physiological Regulation and Microbial Functions.
Journal of agricultural and food chemistryExogenous glycine betaine alleviates dynamic physiological and transcriptomic responses in Inula salsoloides under combined salt-cadmium stress.
Frontiers in plant scienceRole of Altered Metabolites and Metabolic Pathways in Major Tuber Crops Under Drought Stress.
Plant-environment interactions (Hoboken, N.J.)A Halotolerant Lactiplantibacillus plantarum Strain from Pickled White Radish: Multi-Omics Guided Screening and Performance Validation under High-Salt Conditions.
Journal of agricultural and food chemistryButyrate supplementation in sows promotes offspring embryonic muscle development by upregulating HDAC-mediated H3K27ac levels and myogenic gene expression.
Science China. Life sciencesMitochondrial TRPV1 exacerbates cognitive deficits in sepsis-associated encephalopathy by driving microglial metabolic reprogramming.
Free radical biology & medicineThermal stability and thermodynamic analysis of a commercial xylanase in natural deep eutectic solvents (NADES).
International journal of biological macromoleculesC9orf72-derived dipeptide repeat proteins poly-PR disrupt membrane excitability and synaptic function in cortical neurons.
Neurobiology of diseasePrenatal exposure to fine particulate matter and its components is associated with neonatal amino acids and acylcarnitines.
Journal of hazardous materialsMetabolomics-Based Study: Effects of Fructose, Glucose, and Mannose on Islet Cells and Change of Serum Markers in Streptozotocin-Induced Diabetic Rats.
Current diabetes reviews2-Ethylhexanol inhibit Botrytis cinerea by interfering in sugar and amino acid metabolism.
NPJ science of foodTrade-offs between biomass and bioactive compounds in Silybum marianum under elevated CO2 and water deficit across genotypes.
Plant physiology and biochemistry : PPBDiscovery of first-in-class melanostatin-based ago-allosteric modulators of the dopamine D2 receptors.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieIntegrated multi-omics reveals rye seedling responses to nanoplastic and freeze-thaw stress.
Ecotoxicology and environmental safetyDescription of two novel species of the family Ornithinimicrobiaceae: Serinicoccus shuyuelongi sp. nov., and Ornithinimicrobium jinqii sp. nov., isolated from the faeces of the wild birds in the Qinghai-Tibet Plateau of China.
International journal of systematic and evolutionary microbiologySpatial Proteomics of the Normal Breast Collagen Stroma: Links to Density and Body Mass Index.
Journal of proteome researchExogenous Melatonin Enhances the Salt Tolerance of Celery (Apium graveolens L.) by Regulating Osmotic Adaptation and Energy Metabolism via Starch and Sucrose Metabolic Pathways.
International journal of molecular sciencesRaman Investigation of Cardiac Tissues with Sodium-Induced High Stiffness.
Molecules (Basel, Switzerland)The Substrate Versatility of Δ1-Pyrroline-5-carboxylate Reductase (ProC) from Escherichia coli.
Molecules (Basel, Switzerland)Infarction or Metabolic Breakdown? Longitudinally Extensive Diffusion-Restricted Lesions from the Medulla Oblongata to the Lumbar Spinal Cord.
Diagnostics (Basel, Switzerland)Integrative Metabolomic and Physiological Responses of Citrus sinensis to Soil Management in a Semi-Arid Orchard.
Plants (Basel, Switzerland)Identification and characterization of the DREB family in Chinese yam and functional study of DoDREB28 under drought stress.
BMC plant biologyCold tolerance in Cicer arietinum L. seedlings: multivariate insights into freezing stress resistance.
BMC plant biologyTranscriptome Sequencing Analysis Reveals the Mechanisms of Poly-γ-Glutamic Acid Enhanced the Chilling and Freezing Tolerance in Wheat.
BiologyFermented Red Ginseng Restores Age-Associated Insulin Homeostasis and Gut Microbiome Balance in Mice.
BiologyPRR15 suppresses renal cell carcinoma progression via the NF-κB/FDX1 axis to induce cuproptosis and mitochondrial dysfunction.
OncogeneEchinoderm collagen as a neuromodulatory antioxidant: biochemical characterization and molecular interaction with NMDA receptor.
Archives of biochemistry and biophysicsOptimal preclinical models for human dose projection of SARS-CoV-2 small molecule direct-acting antivirals.
Antiviral researchIntegrative transcriptomic and genome wide analysis reveals class III peroxidase responses to abiotic stresses in Selenicereus undatus.
Journal of biotechnologyAssociation Between Diet and Metabolome in Childhood and Adolescence: A Systematic Review.
Nutrition reviewsAssociações
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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.
- Volatile monoterpenes improve PM2.5 phytoremediation of cigarette smoke in Episcia cupreata (Gesneriaceae) by upregulation of cytokinins and osmoprotectants.
- Nitrogen-mediated improvement of ionic homeostasis and antioxidant capacity enhances rice yield and nitrogen use efficiency under soda saline-alkali stress.
- Mechanisms of CARMIL dimerization, autoinhibition, and capping protein binding.
- Bacillus amyloliquefaciens induces autophagy-mediated defense, phytohormonal modulation, and metabolic reprogramming in Oryza sativa to counteract Rhizoctonia solani sheath blight.
- Coordinated Antioxidant and Physiological Responses at Flowering Promote Yield Stability in Salinity-Stressed Barley Genotypes.
- Impact of long-term nitrogen scavenger therapy on clinical outcome in individuals with urea cycle disorders.
- [Detoxification Effect of Selenium Application on Pak Choi in Arsenic-contaminated Soil and Its Mechanism].
- ODC1 restricts meningeal B cell age-associated-like phenotype and function in multiple sclerosis: A human and experimental study.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:79185(Orphanet)
- MONDO:0019230(MONDO)
- GARD:18961(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55788551(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
