Raras
Buscar doenças, sintomas, genes...
Doença do metabolismo da ornitina ou da prolina
ORPHA:79185DOENÇA RARA

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.

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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.

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

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

Partes do corpo afetadas

🧠
Neurológico
58 sintomas
🦴
Ossos e articulações
34 sintomas
😀
Face
32 sintomas
👁️
Olhos
21 sintomas
🧬
Pele e cabelo
17 sintomas
❤️
Coração
17 sintomas

+ 140 sintomas em outras categorias

Características mais comuns

Cisterna magna aumentada
Neuropatia periférica
Diarreia
Arreflexia
Fadiga crônica
Hiperalaninemia
382sintomas
Sem dados (382)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 382 características clínicas mais associadas, ordenadas por frequência.

Cisterna magna aumentadaEnlarged cisterna magna
Neuropatia periféricaPeripheral neuropathy
DiarreiaDiarrhea
ArreflexiaAreflexia
Fadiga crônicaChronic fatigue

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1
Últimos 10 anos200publicações
Pico2026198 papers
Linha do tempo
2025Hoje · 2026
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

8 genes identificados com associação a esta condição.

ALDH18A1Delta-1-pyrroline-5-carboxylate synthaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine

LOCALIZAÇÃO

MitochondrionMitochondrion matrix

VIAS BIOLÓGICAS (1)
Mitochondrial protein degradation
MECANISMO DE DOENÇA

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.

OUTRAS DOENÇAS (6)
hereditary spastic paraplegia 9Aautosomal recessive complex spastic paraplegia type 9Bcutis laxa, autosomal dominant 3ALDH18A1-related de Barsy syndrome
HGNC:9722UniProt:P54886
PYCR1Pyrroline-5-carboxylate reductase 1, mitochondrialDisease-causing germline mutation(s) inTolerante
FUNÇÃO

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)

LOCALIZAÇÃO

Mitochondrion

VIAS BIOLÓGICAS (1)
Glutamate and glutamine metabolism
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
80.3 TPM
Linfócitos
66.8 TPM
Glândula salivar
38.9 TPM
Pâncreas
38.5 TPM
Estômago
25.9 TPM
OUTRAS DOENÇAS (3)
PYCR1-related de Barsy syndromeautosomal recessive cutis laxa type 2Bgeroderma osteodysplastica
HGNC:9721UniProt:P32322
ATP6V1E1V-type proton ATPase subunit E 1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

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)

LOCALIZAÇÃO

Apical cell membraneCytoplasmic vesicle, secretory vesicle, synaptic vesicle membraneCytoplasmic vesicle, clathrin-coated vesicle membrane

VIAS BIOLÓGICAS (6)
Insulin receptor recyclingTransferrin endocytosis and recyclingIon channel transportROS and RNS production in phagocytesAmino acids regulate mTORC1
MECANISMO DE DOENÇA

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.

OUTRAS DOENÇAS (2)
autosomal recessive cutis laxa type 2Cautosomal recessive cutis laxa type 2, classic type
HGNC:857UniProt:P36543
PRODHProline dehydrogenase 1, mitochondrialDisease-causing germline mutation(s) inDesconhecido
FUNÇÃO

Converts proline to delta-1-pyrroline-5-carboxylate

LOCALIZAÇÃO

Mitochondrion matrix

VIAS BIOLÓGICAS (1)
Proline catabolism
MECANISMO DE DOENÇA

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.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Nervo tibial
62.7 TPM
Skin Sun Exposed Lower leg
61.6 TPM
Skin Not Sun Exposed Suprapubic
56.9 TPM
Córtex cerebral
50.8 TPM
Brain Anterior cingulate cortex BA24
44.0 TPM
OUTRAS DOENÇAS (2)
hyperprolinemia type 1schizophrenia 4
HGNC:9453UniProt:O43272
OATOrnithine aminotransferase, mitochondrialDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the reversible interconversion of L-ornithine and 2-oxoglutarate to L-glutamate semialdehyde and L-glutamate

LOCALIZAÇÃO

Mitochondrion matrix

VIAS BIOLÓGICAS (1)
Glutamate and glutamine metabolism
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Intestino delgado
165.3 TPM
Fibroblastos
139.5 TPM
Aorta
118.9 TPM
Artéria tibial
116.9 TPM
Cervix Endocervix
110.6 TPM
OUTRAS DOENÇAS (1)
ornithine aminotransferase deficiency
HGNC:8091UniProt:P04181
ALDH4A1Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrialDisease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Mitochondrion matrix

VIAS BIOLÓGICAS (2)
Glyoxylate metabolism and glycine degradationProline catabolism
MECANISMO DE DOENÇA

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.

OUTRAS DOENÇAS (1)
hyperprolinemia type 2
HGNC:406UniProt:P30038
ATP6V1AV-type proton ATPase catalytic subunit ADisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

CytoplasmCytoplasm, cytosolCytoplasmic vesicle, secretory vesicleCytoplasmic vesicle, clathrin-coated vesicle membraneLysosome

VIAS BIOLÓGICAS (6)
Insulin receptor recyclingTransferrin endocytosis and recyclingIon channel transportROS and RNS production in phagocytesAmino acids regulate mTORC1
MECANISMO DE DOENÇA

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.

OUTRAS DOENÇAS (4)
autosomal recessive cutis laxa type 2Ddevelopmental and epileptic encephalopathy 93undetermined early-onset epileptic encephalopathyautosomal recessive cutis laxa type 2, classic type
HGNC:851UniProt:P38606
ATP6V0A2V-type proton ATPase 116 kDa subunit a 2Disease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Cell membraneEndosome membrane

VIAS BIOLÓGICAS (3)
Insulin receptor recyclingTransferrin endocytosis and recyclingIon channel transport
MECANISMO DE DOENÇA

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.

OUTRAS DOENÇAS (3)
wrinkly skin syndromeautosomal recessive cutis laxa type 2Aautosomal recessive cutis laxa type 2, classic type
HGNC:18481UniProt:Q9Y487

Variantes genéticas (ClinVar)

412 variantes patogênicas registradas no ClinVar.

🧬 ALDH18A1: NM_002860.4(ALDH18A1):c.1702C>T (p.Gln568Ter) ()
🧬 ALDH18A1: NM_002860.4(ALDH18A1):c.2110+1G>T ()
🧬 ALDH18A1: NM_002860.4(ALDH18A1):c.358G>A (p.Val120Ile) ()
🧬 ALDH18A1: NM_002860.4(ALDH18A1):c.1274G>A (p.Arg425His) ()
🧬 ALDH18A1: NM_002860.4(ALDH18A1):c.1895A>G (p.Gln632Arg) ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFG

Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

NUPAD / Faculdade de Medicina UFMG

Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226

Serviço de Referência

Rota
Erros Inatos do Metabolismo

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da Universidade Federal de Pernambuco

Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492

Atenção Especializada

Rota
Erros Inatos do Metabolismo

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Onofre Lopes (HUOL)

Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570

Atenção Especializada

Rota
Erros Inatos do Metabolismo

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Instituto da Criança e do Adolescente (ICr-HCFMUSP)

Av. Dr. Enéas Carvalho de Aguiar, 647 - Cerqueira César, São Paulo - SP, 05403-000 · CNES 2081695

Serviço de Referência

Rota
Erros Inatos do Metabolismo

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Volatile monoterpenes improve PM2.5 phytoremediation of cigarette smoke in Episcia cupreata (Gesneriaceae) by upregulation of cytokinins and osmoprotectants.

Environmental science and pollution research international2026 Mar 24

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.

🇧🇷 traduzido
#2

Nitrogen-mediated improvement of ionic homeostasis and antioxidant capacity enhances rice yield and nitrogen use efficiency under soda saline-alkali stress.

Frontiers in plant science2026

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.

🇧🇷 traduzido
#3

Mechanisms of CARMIL dimerization, autoinhibition, and capping protein binding.

Science advances2026 Mar 20

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.

🇧🇷 traduzido
#4

Bacillus amyloliquefaciens induces autophagy-mediated defense, phytohormonal modulation, and metabolic reprogramming in Oryza sativa to counteract Rhizoctonia solani sheath blight.

Plant cell reports2026 Mar 18

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.

🇧🇷 traduzido
#5

Coordinated Antioxidant and Physiological Responses at Flowering Promote Yield Stability in Salinity-Stressed Barley Genotypes.

International journal of molecular sciences2026 Mar 07

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*.

🇧🇷 traduzido

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 200

2026

Assessment of Drought Stress Resilience Through Serendipita indica Endophytism in Tobacco.

Physiologia plantarum
2026

Volatile monoterpenes improve PM2.5 phytoremediation of cigarette smoke in Episcia cupreata (Gesneriaceae) by upregulation of cytokinins and osmoprotectants.

Environmental science and pollution research international
2026

Research on the compatibility mechanism of the Tingli Dazao Xiefei Decoction by multi-organ metabolomics strategy.

Journal of ethnopharmacology
2026

Transcriptome analysis reveals heat stress-responsive genes in octoploid strawberry seedlings and expression pattern analysis of FaHSF gene family under heat stress.

PeerJ
2026

Nitrogen-mediated improvement of ionic homeostasis and antioxidant capacity enhances rice yield and nitrogen use efficiency under soda saline-alkali stress.

Frontiers in plant science
2026

A Single Intra-articular Injection of IDO-Gal3 Shifts Synovial Fluid Metabolic Profiles for up to Six Weeks in Male Rats with Knee Instability.

Biochimie
2026

The gasotransmitters hydrogen sulfide and nitric oxide independently regulate growth, physiology, and secondary metabolism in fenugreek (Trigonella foenum-graecum L.).

Plant physiology and biochemistry : PPB
2026

A study on γ-Aminobutyric acid (GABA) enrichment and its metabolic mechanism in germinating mung beans under the stress of ultrasound combined with slightly acidic electrolyzed water.

Ultrasonics sonochemistry
2026

Mechanisms of CARMIL dimerization, autoinhibition, and capping protein binding.

Science advances
2026

Investigating the role of FKBP4 in testis germ cell tumor via integrated in silico approach.

In silico pharmacology
2026

Microglia cause HIV-induced transcriptional and metabolic changes in human neural organoids.

Communications biology
2026

Fusarium oxysporum f. sp. cubense Race 4 Effector, Foc4-305, Targets a Proline-Rich Protein in Banana and Contributes to Virulence.

Journal of agricultural and food chemistry
2026

Multi-Omics Analysis Links MYB/bHLH Expression to Cyanidin Accumulation and Antioxidant System in Purple-Stemmed Codonopsis pilosula.

Physiologia plantarum
2026

The interplay between Peptostreptococcus and Fusobacterium as novel signatures in colorectal cancer recurrence.

Microbiome
2026

Impact of long-term nitrogen scavenger therapy on clinical outcome in individuals with urea cycle disorders.

Scientific reports
2026

Bacillus amyloliquefaciens induces autophagy-mediated defense, phytohormonal modulation, and metabolic reprogramming in Oryza sativa to counteract Rhizoctonia solani sheath blight.

Plant cell reports
2026

Integrative analysis of rhizosphere metabolomics and root anatomical adaptations in wheat under drought stress: comparative insights from DH-11 and PK-13.

Physiology and molecular biology of plants : an international journal of functional plant biology
2026

Arbuscular mycorrhizal fungi as integrative modulators of plant tolerance to drought, salinity, and heavy metal stress: mechanistic insights and future directions.

Journal, genetic engineering & biotechnology
2026

Integrative Metabolomic and Biochemical Profiling of Rhubarb vis-à-vis Environmental Modulation in NW Indian Himalayas Through LC-QTOF-MS/MS Analysis.

Chemistry & biodiversity
2026

Theasinensin C Mitigates HFrD-Induced Neuroinflammation by Enriching Akkermansia muciniphila and Orchestrating a Gln/Ser-Centered Multiorgan Metabolic Relay to Drive Creatine Biosynthesis.

Journal of agricultural and food chemistry
2026

Bacterial consortia enhance nutrient uptakes and molecular response in tomato seedlings under alkaline soil stress: a comparative study.

Frontiers in microbiology
2026

Multi-omics profiling complements physicochemical monitoring by revealing functional signatures of dissolved oxygen status in the Xijiang River.

Water research
2026

Elucidating the Anti-thrombotic Mechanism of Equiseti hiemalis Herba through Integrated Pharmacology.

Current pharmaceutical design
2026

Increased susceptibility to 4-HNE-induced toxicity and impaired development in a model of ALDH4A1-deficient pediatric epilepsy carrying the S352L variant.

Communications biology
2026

The ROS-triggered antibacterial mechanism of zinc oxide nanoparticles against Xanthomonas citri subsp. citri for citrus canker management.

Pesticide biochemistry and physiology
2026

[Detoxification Effect of Selenium Application on Pak Choi in Arsenic-contaminated Soil and Its Mechanism].

Huan jing ke xue= Huanjing kexue
2026

Gut-Brain Metabolic Remodeling Mediates the Neuroprotective Effects of Combined Shrimp and Corn Peptides in Scopolamine-Induced Cognitive Impairment.

Foods (Basel, Switzerland)
2026

Mulberry Silage as Alternative to Soybean Meal Protein in Ruminant Diet: Effect on Growth Performance, Digestion, Antioxidant Capacity, and Carcass Characteristics of Goats.

Animals : an open access journal from MDPI
2026

Coordinated Antioxidant and Physiological Responses at Flowering Promote Yield Stability in Salinity-Stressed Barley Genotypes.

International journal of molecular sciences
2026

Genome-Wide Characterization of Nuclear Factor Y (NF-Y) Transcription Factors Gene Family in Cabbage (Brassica oleracea var. capitata L.) Uncovers Their Critical Roles in Salt Stress Tolerance.

International journal of molecular sciences
2026

Transcriptome Analysis and Functional Validation of JAZ Subfamily Genes of Sesuvium portulacastrum Under Salt and Cadmium Stresses.

International journal of molecular sciences
2026

Arginine improves growth and health status of post-larval Litopenaeus vannamei by modulating amino acid metabolism and enhancing antioxidative defense.

Amino acids
2026

ODC1 restricts meningeal B cell age-associated-like phenotype and function in multiple sclerosis: A human and experimental study.

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

Emerging neurological and cognitive symptoms in patients with late-onset ornithine transcarbamylase deficiency: a narrative review.

Metabolic brain disease
2026

Integrated physiological and transcriptomic analysis revealed key genes and pathways related to continuous drought and salinity stress in Populus.

Plant cell reports
2026

Adaptive Mechanisms of White-Flowered Alfalfa (Medicago sativa L.) in High-Altitude Cold and Saline-Alkali Environments.

Biology
2026

Screening of Heat-Resistant Morchella Strains and Elucidation of Their Heat-Tolerance Mechanisms.

Biology
2025

Exploring the Modulation of Extracellular Metabolites in Different Listeria monocytogenes Strains under Cold-Stress.

Food science of animal resources
2026

Mass drug administration of praziquantel lowers the susceptibility of school-aged children to Schistosoma mansoni in endemic areas.

Frontiers in immunology
2026

Green synthesis of silica nanoparticles using chia seeds boosts rice germination and physiological responses.

Scientific reports
2026

Fluorogenic Ligand Enables Identification of NSD3-Overexpressed Tumors by Targeting the PWWP1 Domain of NSD3.

Analytical chemistry
2026

A metabolomics approach to fingerprint the heat-induced alterations in milk and identify potential thermal biomarkers.

Food research international (Ottawa, Ont.)
2026

Physiological and transcriptomic insights into the stress response of mud crab Scylla paramamosain (Estampador, 1950) to low salinity.

Marine environmental research
2026

Early administration of renin-angiotensin system inhibitors improves survival and cardiac remodeling in heart failure with preserved ejection fraction.

PloS one
2026

Protective role of nano-selenium on Gymnocypris przewalskii under saline-alkaline stress: a comprehensive analysis of transcriptomics and metabolomics.

Fish physiology and biochemistry
2026

Urine Metabolism Biomarkers Predict Preterm Infant Adiposity at Hospital Discharge.

Molecular nutrition & food research
2026

[Analysis of urine biomarkers in urothelial carcinoma based on untargeted metabolomics].

Se pu = Chinese journal of chromatography
2026

[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
2026

Form-Dependent Roles of Nitrogen in Root Growth and Metabolic Adaptation of Spartina alterniflora to Increasing Water Scarcity.

Physiologia plantarum
2026

Astaxanthin mitigates thermal stress-induced intestinal injury in largemouth bass (Micropterus salmoides) through antioxidant and immune-metabolic remodeling: Evidence from multi-omics analysis.

Developmental and comparative immunology
2026

Salinity and drought suppress C4 and induce CAM metabolism in two Portulaca species.

Annals of botany
2026

Integrated Genome-wide Association and Single-cell Transcriptomic Analysis Identifies OAT as Therapeutic Targets for Periodontitis.

Inflammation
2026

Dynamic Coordination Geometry Transformation for Near-Unity PLQY and Photo-Tunable Full-Color Circularly Polarized Luminescence.

The journal of physical chemistry letters
2026

Different application methods of humic acid and zinc differentially regulate osmotic balance and C-repeat binding factor pathways in cold-stressed oat (Avena sativa L.).

PeerJ
2026

Plant growth-defense trade-offs regulate phytoremediation efficiency and ecosystem resilience in the contaminated environments.

Journal of environmental management
2026

CRISPR/dCas9-Mediated BRL3 Activation Enhances Growth and Metabolic Resilience Under Osmotic Stress in Nicotiana tabacum.

Physiologia plantarum
2026

Proteomic mapping of Rosa damascena nanovesicles reveals plastid mitochondrial metabolic convergence and antimicrobial peptides.

Plant signaling & behavior
2026

Exogenous NO enhances drought tolerance in alfalfa via the lignin synthesis pathway.

BMC genomics
2026

ODC1 Polyamine Metabolism Drives Prostate Cancer via AKT and Splicing.

Journal of cellular and molecular medicine
2026

Investigating the impact of carbamazepine on tomato plant metabolism using genome-scale metabolic modelling.

Scientific reports
2026

Unraveling differential salt tolerance mechanisms in Chlorella pyrenoidosa: systemic comparison of acidic, neutral, and alkaline salinity stresses.

Bioresource technology
2026

Exogenous melatonin and silicon modulate chlorophyll metabolism and photosynthetic performance in muskmelon (Cucumis melo L.) under heat stress.

Journal of the science of food and agriculture
2026

Targeting the proline-glycine-proline-protease feed-forward loop attenuates primary graft dysfunction after lung transplantation.

Frontiers in immunology
2026

Exogenous Glutathione and Nitric Oxide Improve Waterlogging Stress Tolerance in Maize.

Plant-environment interactions (Hoboken, N.J.)
2026

FaERF105 Confers Drought and Cold Tolerance Through Upregulating Antioxidant Capacity Associated With ROS Scavenging.

Physiologia plantarum
2026

Biomimetic Ligand Engineering of Metal Nanoclusters for Synergizing Enzyme-like Catalysis and Electrocatalysis.

ACS nano
2026

Cerium-iron symbiotic nanozyme alleviates drought stress in wheat by targeting stomatal regulation and photosynthesis.

Bioresource technology
2026

Brassinosteroids Orchestrate Multi-Layered Drought Adaptation in Quercus glauca Through Integrated Transcriptomic and Metabolomic Reprogramming.

Tree physiology
2026

Characterization of tomato AHL proteins and their biological functions in the resistance to salt and osmotic stresses.

Plant cell reports
2026

Multi-Omics Reveals Phenethyl Acetate and Its Producer Lactiplantibacillus plantarum as Key Drivers of Enhanced Palatability in Alfalfa Silage.

Microbial biotechnology
2026

A synbiotic combination of arabinogalactan and Bacteroides thetaiotaomicron ameliorates ulcerative colitis in mice.

Food research international (Ottawa, Ont.)
2026

Effect 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.)
2026

Dual Stress Postischemia Deprivation Depression via Metabolic Disturbance in Rodents.

The Journal of surgical research
2026

Deciphering barley's stress response: metabolomic strategies and phenotypic implications under multiple abiotic stresses.

Metabolomics : Official journal of the Metabolomic Society
2026

Pediatric liver transplantation for inherited metabolic disease-Current challenges.

Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association
2026

Chronic Pyraclostrobin Exposure-Induced Developmental Toxicity and ABC Transporter-Associated Metabolism Disorders during Zebrafish Embryo-Larval Stages.

Journal of agricultural and food chemistry
2026

Proline/serine-rich coiled-coil 1 alleviates atherosclerosis via remodeling tryptophan metabolism mediated by Akkermansia muciniphila.

Experimental & molecular medicine
2026

Quantification of L- and D-enantiomers of proline, trans-4-hydroxyproline, and cis-4-hydroxyproline in natural samples using differential labeling with 12C- and 13C6-dabsyl chloride, chiral separation, and liquid chromatography-mass spectrometry.

Journal of biochemistry
2026

Effects of eugenol on physiological metabolism and nutritional quality of Chinese mitten crab (Eriocheir sinensis) during simulated cold chain logistics process.

Food chemistry
2026

Peroxisomal acyl-CoA oxidase OsACX4 negatively regulates salt and drought stress tolerance by modulating cellular redox homeostasis in rice.

Plant cell reports
2026

Phytochemical responses of Dracocephalum kotschyi Boiss. to water deficit stress and different fertilizers.

Scientific reports
2026

Decoding the multifunctional role of γ-aminobutyric acid in plant adaptation to drought stress.

Planta
2026

Small proline-rich protein 1A is a novel target of peroxisome proliferator-activated receptor gamma in steatotic liver disease.

Cellular signalling
2026

Mitigation of Fomesafen Phytotoxicity in Sugar Beet by Biochar through Modulation of Antioxidant Metabolism and Photosynthetic Gene Regulation.

Journal of agricultural and food chemistry
2026

Analysis of expression characteristics of oil palm EgPRP1 promoter as potential tools for root-trait modification.

Plant cell reports
2026

Evaluating the Impact of Phosphorylation on the Dynamics of the Tau Protein Proline-Rich Region.

Journal of chemical theory and computation
2026

Sex-based multiomics analysis uncovers metabolic and molecular mediators linking MASH and atherosclerosis.

JHEP reports : innovation in hepatology
2026

Serum Prolidase Activity and its Association with Oxidative Stress and Inflammation in Silicosis.

Nigerian journal of clinical practice
2026

Nano-enabled enhancement of salt stress tolerance in barley using chitosan-selenium nanoparticles: physiological and molecular insights.

Scientific reports
2026

Ultra-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 disease
2026

Red Blood Cell Metabolomic Signatures in β-Thalassemia Heterozygotes With Elevated HbA1c: Implications for Biomarkers and Personalized Medicine.

Journal of diabetes science and technology
2026

[Hepatic encephalopathy from cholangitis in a young patient with ornithine transcarbamylase mutation].

Revista medica del Instituto Mexicano del Seguro Social
2026

Multilayer Timing of Cardiac Circadian Regulation Informs Prevention and Treatment of Cardiovascular Disease.

Vascular health and risk management
2026

Loss of Nonhematopoietic Osteopontin Weakens the Intestinal Barrier and Alters the Microbiome and Metabolome in Mice.

Gastro hep advances
2026

Pathway thermodynamic analysis postulates change in glutamate metabolism as a key factor in modulating immune responses.

Immunometabolism (Cobham, Surrey)
2026

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.

Cureus
2026

Metabolomics biomarkers for precision psychiatry.

Frontiers in psychiatry
2026

Integrated 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 ethnopharmacology
2026

Nontargeted screening identifies mixtures of environmental pollutants that are associated with perturbations to amino acid and fatty acid metabolic pathways during early pregnancy.

Environment international
2026

Heat-induced regulation on metabolite biosynthesis improves antioxidant capacity and nutritional quality of black highland barley (Hordeum vulgare L.).

Food research international (Ottawa, Ont.)
2026

RlTTG1 isolated from Rosa laevigata Michx. regulates trichome development and stress response in transgenic Arabidopsis.

Plant science : an international journal of experimental plant biology
2026

Aged polyethylene microplastics modulate herbicide and antibiotic bioavailability and plant responses: A case study with glyphosate and tetracycline.

Ecotoxicology and environmental safety
2026

Effect of two-doses of 3-Nitrooxypropanol (3-NOP) on methane emissions, performance, rumen microbiome, and metabolomics in Nellore cattle.

Journal of animal science
2026

Explore 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.

Medicine
2026

The causal association between plasma amino acid levels and abdominal aortic aneurysm: insights from Mendelian randomization and an experimental validation.

European journal of pharmacology
2026

C-type natriuretic peptide pre-maturation culture affects cytoplasmic maturation in bovine oocytes†.

Biology of reproduction
2026

Graphene Oxide Enhances Drought Tolerance in Apple by Promoting ROS Scavenging and Regulating Amino Acid Contents.

Physiologia plantarum
2026

P4HA2 Participates in Pathogenesis of Refractive Error by Regulating Collagen Posttranslational Modification and Extracellular Matrix Balance.

Human mutation
2026

Polyamine metabolic enzyme SAT1 remodels the neuronal transcriptome and rescues α-synuclein toxicity in Drosophila.

Research square
2026

Serum amino acid levels are associated with brain hypometabolism in patients across the Alzheimer's disease continuum.

IBRO neuroscience reports
2026

Prolyl tRNA Synthetase Is Required for Mammarenavirus Multiplication.

Viruses
2026

Modulation of Grapevine Physiological Performance by Compost and Vermicompost Obtained from Vine Pruning Residues.

Plants (Basel, Switzerland)
2026

Prolyl 3-Hydroxylase 2 Supports a Pro-Angiogenic Milieu Promoting Colorectal Cancer Progression and Metastasis.

International journal of molecular sciences
2026

High 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 sciences
2026

Differential Metabolic Changes in Zebrafish Embryos Are Induced by Discontinued Citalopram Exposure.

Biomedicines
2026

Early Growth and Serum Metabolic Profiling of One-Month-Old MSTN-Knockout Xinjiang Brown Cattle via CRISPR/Cas12Mix.

Animals : an open access journal from MDPI
2026

Dietary Sources of Glycine Betaine and Proline Betaine in Plant Foods and Their Potential Biological Relevance in Human Nutrition.

Foods (Basel, Switzerland)
2026

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 macromolecules
2026

Salinity stress in rice: mechanisms and molecular approaches to mitigation.

Planta
2026

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

Scandinavian journal of clinical and laboratory investigation
2026

Ligand Radicals Tune LPMO Activity in Model Complex.

Inorganic chemistry
2026

Untargeted Metabolomics of Human Airway Epithelium Reveals Neuroactive Signatures Linked to Pulmonary Neuroendocrine Cell Enrichment and Allergen Exposure.

Metabolites
2026

Widely Targeted Liver Metabolomics Reveals Potential Biomarkers in Mice with Drug-Induced Liver Injury.

Metabolites
2026

Enhanced 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)
2026

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 biology
2026

Nucleosome spacing regulates linker methylation by DNMT3A2/3B3.

Molecular cell
2026

[Effect of moxibustion at "Zusanli" (ST36) on amino acid metabolism of knee cartilage in KOA rats].

Zhongguo zhen jiu = Chinese acupuncture & moxibustion
2026

Proline-Mediated Inhibition of ATPIF1-mTOR Signaling Alleviates Radiation-Induced Macrophage Polarization and Colon Inflammation.

Inflammation
2026

A gated hydrophobic funnel within BAX binds bioactive lipids to potentiate pro-apoptotic function.

Nature communications
2026

Functional characterization of the quinoa transcription factor CqBBX28 in drought stress response.

International journal of biological macromolecules
2026

A cyclic nucleotide-gated channel gene HcCNGC11 positively regulates salt stress responses in kenaf (Hibiscus cannabinus L.).

Plant molecular biology
2026

Modulation of arsenic uptake and detoxification in maize (Zea mays L.) by plant-based iron oxide nanoparticles.

Biodegradation
2026

Plant-Beneficial Streptomyces thermocarboxydus S3 Mitigates Heat Stress in Hydroponically Grown Lettuce.

Scientifica
2026

Investigating hypoxia-inducible factor signaling in cancer: Mechanisms, clinical implications, targeted therapeutic strategies, and resistance.

Cancer pathogenesis and therapy
2026

Potential survival strategies of novel comammox and nitrite-oxidizing Nitrospira synthesizing osmoprotectants in a wastewater microbiome treating high-ammonia brackish landfill leachate.

Microbiome
2026

Identification of Inhibitors for eIF5A2-Dependent Translation Elongation by Monitoring the Translational Efficiency of Polyproline Motif in Mitochondrial Fission Regulator 1.

Biological & pharmaceutical bulletin
2026

Folding Thermodynamics and Kinetics of the N-Terminal Domain of the Circadian Clock-Regulated Histidine Kinase SasA.

Chembiochem : a European journal of chemical biology
2026

Expanding the Molecular Scope of Photo-CIDNP for Nanomolar 19F NMR Detection of Amines.

Journal of the American Chemical Society
2026

Seasonal and Environmental Influences on Free Sugar and Amino Acid Profiles of Lycium barbarum Berries Cultivated in Southern Tuscany.

Food science & nutrition
2026

A Complex Case of Ornithine Transcarbamylase Deficiency in a Patient With Severe Comorbid Conditions.

Clinical case reports
2026

Nutrient microenvironments reprogram RPE metabolism.

bioRxiv : the preprint server for biology
2026

Dendrogenomic resilience mechanisms of two endangered Mexican spruces.

Plant diversity
2026

The optimal dietary crude protein level improves goat production performance by enhancing the body's antioxidant function and energy metabolism.

Frontiers in microbiology
2026

Microbiome- metabolome signatures and Behavioral alterations in a progressive MPTP-induced mouse model of Parkinson's disease.

Experimental neurology
2026

A 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 : PPB
2026

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

npj aging
2026

Proline, a privileged fragment in drug design: advances and future perspectives.

European journal of medicinal chemistry
2026

Nontargeted metabolomics analysis of potential biomarkers for patients with chronic ischemic stroke in extremely cold rural regions: An exploratory case-control study.

PloS one
2026

Structural Aspects of Proline Methanologues in Drug Design, Optimization, and Development.

The Journal of organic chemistry
2026

The integration of plasma non-target metabolomics and lipidomics analysis for the discovery of global developmental delay/intellectual disability biomarkers.

Frontiers in cellular neuroscience
2026

Analysis of the dynamic metabolic changes during the ripening of wolfberry (Lycium barbarum L.) fruits by theta-nano-extractive electrospray ionization mass spectrometry.

Food chemistry: X
2025

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

British journal of biomedical science
2026

Morphological, physiological, and transcriptomic analysis of Taxodium mucronatum under different salinity stresses.

Frontiers in plant science
2026

Akkermansia muciniphila reduces neuroinflammation and Aβ deposition via tryptophan metabolism in the APP/PS1 mouse model of Alzheimer's disease.

Alzheimer's research & therapy
2026

Physiological and metabolic responses of dill to nano-silica and nano-zinc under drought stress: implications for yield and essential oil quality.

BMC plant biology
2026

Development and validation of a robust UPLC-MS/MS method for the analysis of polyamines in cells, biofluids and tissues.

Journal of pharmaceutical and biomedical analysis
2026

Integrated proteomic and phosphoproteomic analysis reveals the MAPK cascade as a key regulator of ethylene-induced latex production in Hevea brasiliensis.

Stress biology
2026

Microbiome-Metabolomics Reveals the Bidirectional Associations Between Aging and Depression.

Indian journal of microbiology
2026

Biochar: Acinetobacter driven rhizoremediation of arsenic contaminated soil.

Environmental geochemistry and health
2026

Quantification of D-Amino Acids in Type 1 Diabetes-Affected Human Serum.

Journal of the American Society for Mass Spectrometry
2026

Integrated transcriptomic and metabolomic profiling deciphers breed-, age-, and rearing system-dependent regulation of muscle development and meat quality in chickens.

Food chemistry. Molecular sciences
2026

Effect of equine-derived Lactobacillus M11 on the reproductive performance of KM pregnant female mice.

Frontiers in microbiology
2026

Integrated transcriptome and metabolome reveal nano-selenium-mediated low temperature tolerance in lettuce (Lactuca sativa var. italica).

Plant physiology and biochemistry : PPB
2026

Enhancement of γ-Aminobutyric Acid (GABA) Content in Germinated Soybeans through Glutamate and Cold Stress Treatments.

Journal of agricultural and food chemistry
2026

Targeted serum metabolomics reveals alterations in amino acid and neurotransmitter pathways in Parkinson's disease.

The Analyst
2026

Adaptive Laboratory Evolution of Baker's Yeast for Improved Trehalose Accumulation and Freeze-Thaw Tolerance.

Journal of agricultural and food chemistry
2026

Gyrate atrophy of the choroid and retina: a tertiary center experience.

Orphanet journal of rare diseases
2026

Allelopathic and autotoxic effects of sorghum extract and residues on seed behavior, and morphological, physiological, and biochemical responses of several plants.

Scientific reports
2026

HLA-B27-associated gut microbiota and amino acid perturbations promote ankylosing spondylitis through M1 macrophage activation.

Gut microbes
2026

Programmable Multiplexed Proteomics via Sequence-Encoded Mass Tagging.

Analytical chemistry
2026

Nanopriming with Silicon Quantum Dots Strengthens Wheat Drought Tolerance through Physiological Regulation and Microbial Functions.

Journal of agricultural and food chemistry
2026

Exogenous glycine betaine alleviates dynamic physiological and transcriptomic responses in Inula salsoloides under combined salt-cadmium stress.

Frontiers in plant science
2026

Role of Altered Metabolites and Metabolic Pathways in Major Tuber Crops Under Drought Stress.

Plant-environment interactions (Hoboken, N.J.)
2026

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 chemistry
2026

Butyrate supplementation in sows promotes offspring embryonic muscle development by upregulating HDAC-mediated H3K27ac levels and myogenic gene expression.

Science China. Life sciences
2026

Mitochondrial TRPV1 exacerbates cognitive deficits in sepsis-associated encephalopathy by driving microglial metabolic reprogramming.

Free radical biology & medicine
2026

Thermal stability and thermodynamic analysis of a commercial xylanase in natural deep eutectic solvents (NADES).

International journal of biological macromolecules
2026

C9orf72-derived dipeptide repeat proteins poly-PR disrupt membrane excitability and synaptic function in cortical neurons.

Neurobiology of disease
2026

Prenatal exposure to fine particulate matter and its components is associated with neonatal amino acids and acylcarnitines.

Journal of hazardous materials
2026

Metabolomics-Based Study: Effects of Fructose, Glucose, and Mannose on Islet Cells and Change of Serum Markers in Streptozotocin-Induced Diabetic Rats.

Current diabetes reviews
2026

2-Ethylhexanol inhibit Botrytis cinerea by interfering in sugar and amino acid metabolism.

NPJ science of food
2026

Trade-offs between biomass and bioactive compounds in Silybum marianum under elevated CO2 and water deficit across genotypes.

Plant physiology and biochemistry : PPB
2026

Discovery of first-in-class melanostatin-based ago-allosteric modulators of the dopamine D2 receptors.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
2026

Integrated multi-omics reveals rye seedling responses to nanoplastic and freeze-thaw stress.

Ecotoxicology and environmental safety
2026

Description 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 microbiology
2026

Spatial Proteomics of the Normal Breast Collagen Stroma: Links to Density and Body Mass Index.

Journal of proteome research
2026

Exogenous 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 sciences
2026

Raman Investigation of Cardiac Tissues with Sodium-Induced High Stiffness.

Molecules (Basel, Switzerland)
2026

The Substrate Versatility of Δ1-Pyrroline-5-carboxylate Reductase (ProC) from Escherichia coli.

Molecules (Basel, Switzerland)
2026

Infarction or Metabolic Breakdown? Longitudinally Extensive Diffusion-Restricted Lesions from the Medulla Oblongata to the Lumbar Spinal Cord.

Diagnostics (Basel, Switzerland)
2026

Integrative Metabolomic and Physiological Responses of Citrus sinensis to Soil Management in a Semi-Arid Orchard.

Plants (Basel, Switzerland)
2026

Identification and characterization of the DREB family in Chinese yam and functional study of DoDREB28 under drought stress.

BMC plant biology
2026

Cold tolerance in Cicer arietinum L. seedlings: multivariate insights into freezing stress resistance.

BMC plant biology
2026

Transcriptome Sequencing Analysis Reveals the Mechanisms of Poly-γ-Glutamic Acid Enhanced the Chilling and Freezing Tolerance in Wheat.

Biology
2026

Fermented Red Ginseng Restores Age-Associated Insulin Homeostasis and Gut Microbiome Balance in Mice.

Biology
2026

PRR15 suppresses renal cell carcinoma progression via the NF-κB/FDX1 axis to induce cuproptosis and mitochondrial dysfunction.

Oncogene
2026

Echinoderm collagen as a neuromodulatory antioxidant: biochemical characterization and molecular interaction with NMDA receptor.

Archives of biochemistry and biophysics
2026

Optimal preclinical models for human dose projection of SARS-CoV-2 small molecule direct-acting antivirals.

Antiviral research
2026

Integrative transcriptomic and genome wide analysis reveals class III peroxidase responses to abiotic stresses in Selenicereus undatus.

Journal of biotechnology
2026

Association Between Diet and Metabolome in Childhood and Adolescence: A Systematic Review.

Nutrition reviews

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Volatile monoterpenes improve PM2.5 phytoremediation of cigarette smoke in Episcia cupreata (Gesneriaceae) by upregulation of cytokinins and osmoprotectants.
    Environmental science and pollution research international· 2026· PMID 41872625mais citado
  2. Nitrogen-mediated improvement of ionic homeostasis and antioxidant capacity enhances rice yield and nitrogen use efficiency under soda saline-alkali stress.
    Frontiers in plant science· 2026· PMID 41868504mais citado
  3. Mechanisms of CARMIL dimerization, autoinhibition, and capping protein binding.
    Science advances· 2026· PMID 41861019mais citado
  4. Bacillus amyloliquefaciens induces autophagy-mediated defense, phytohormonal modulation, and metabolic reprogramming in Oryza sativa to counteract Rhizoctonia solani sheath blight.
    Plant cell reports· 2026· PMID 41845042mais citado
  5. Coordinated Antioxidant and Physiological Responses at Flowering Promote Yield Stability in Salinity-Stressed Barley Genotypes.
    International journal of molecular sciences· 2026· PMID 41828670mais citado
  6. Impact of long-term nitrogen scavenger therapy on clinical outcome in individuals with urea cycle disorders.
    Sci Rep· 2026· PMID 41851188recente
  7. [Detoxification Effect of Selenium Application on Pak Choi in Arsenic-contaminated Soil and Its Mechanism].
    Huan Jing Ke Xue· 2026· PMID 41830279recente
  8. ODC1 restricts meningeal B cell age-associated-like phenotype and function in multiple sclerosis: A human and experimental study.
    Proc Natl Acad Sci U S A· 2026· PMID 41824499recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:79185(Orphanet)
  2. MONDO:0019230(MONDO)
  3. GARD:18961(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. 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

Doença do metabolismo da ornitina ou da prolina
Compêndio · Raras BR

Doença do metabolismo da ornitina ou da prolina

ORPHA:79185 · MONDO:0019230
MedGen
UMLS
C5681278
Wikidata
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