Raras
Buscar doenças, sintomas, genes...
Doença do metabolismo da serina ou da glicina
ORPHA:79194DOENÇA RARA

Doença metabólica hereditária que tem como base a interrupção do processo metabólico de aminoácidos da família das serinas.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Doença metabólica hereditária que tem como base a interrupção do processo metabólico de aminoácidos da família das serinas.

🏥
SUS: Cobertura mínimaScore: 20%
Centros em: PA, PR, SC, RS, ES +8
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Entender a doença

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Sinais e sintomas

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

Partes do corpo afetadas

🧠
Neurológico
48 sintomas
😀
Face
22 sintomas
🦴
Ossos e articulações
20 sintomas
💪
Músculos
15 sintomas
📏
Crescimento
12 sintomas
👁️
Olhos
10 sintomas

+ 96 sintomas em outras categorias

Características mais comuns

Microcefalia
Morfologia anormal do sistema cardiovascular
Anormalidade da migração neuronal
Septo pelúcido ausente
Raquitismo
Calcificação cerebral
256sintomas
Sem dados (256)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 256 características clínicas mais associadas, ordenadas por frequência.

MicrocefaliaMicrocephaly
Morfologia anormal do sistema cardiovascularAbnormal cardiovascular system morphology
Anormalidade da migração neuronalAbnormality of neuronal migration
Septo pelúcido ausenteAbsent septum pellucidum
RaquitismoRickets

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1
Últimos 10 anos200publicações
Pico2026197 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.

PHGDHD-3-phosphoglycerate dehydrogenaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the reversible oxidation of 3-phospho-D-glycerate to 3-phosphonooxypyruvate, the first step of the phosphorylated L-serine biosynthesis pathway. Also catalyzes the reversible oxidation of 2-hydroxyglutarate to 2-oxoglutarate and the reversible oxidation of (S)-malate to oxaloacetate

LOCALIZAÇÃO

VIAS BIOLÓGICAS (1)
Serine metabolism
MECANISMO DE DOENÇA

Phosphoglycerate dehydrogenase deficiency

An autosomal recessive inborn error of L-serine biosynthesis, clinically characterized by congenital microcephaly, psychomotor retardation, and seizures.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
83.1 TPM
Brain Spinal cord cervical c-1
50.3 TPM
Skin Not Sun Exposed Suprapubic
50.0 TPM
Glândula salivar
47.9 TPM
Testículo
45.6 TPM
OUTRAS DOENÇAS (2)
Neu-Laxova syndrome 1PHGDH deficiency
HGNC:8923UniProt:O43175
GCSHGlycine cleavage system H protein, mitochondrialCandidate gene tested inTolerante
FUNÇÃO

The glycine cleavage system catalyzes the degradation of glycine. The H protein (GCSH) shuttles the methylamine group of glycine from the P protein (GLDC) to the T protein (GCST). Has a pivotal role in the lipoylation of enzymes involved in cellular energetics such as the mitochondrial dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex (DLAT), and the mitochondrial dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase com

LOCALIZAÇÃO

Mitochondrion

VIAS BIOLÓGICAS (2)
Protein lipoylationGlycine degradation
MECANISMO DE DOENÇA

Multiple mitochondrial dysfunctions syndrome 7

An autosomal recessive disorder biochemically characterized by glycine accumulation in body fluids, including the cerebrospinal fluid, with an elevated cerebrospinal fluid/plasma glycine ratio. The broad clinical spectrum ranges from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, limited verbal communication, behavioral problems, seizures and variable movement problems. Death in infancy or early childhood may occur.

EXPRESSÃO TECIDUAL(Ubíquo)
Brain Spinal cord cervical c-1
20.7 TPM
Tireoide
17.5 TPM
Substância negra
16.6 TPM
Cérebro - Amígdala
13.1 TPM
Hipotálamo
12.9 TPM
OUTRAS DOENÇAS (4)
multiple mitochondrial dysfunctions syndrome 7atypical glycine encephalopathyinfantile glycine encephalopathyneonatal glycine encephalopathy
HGNC:4208UniProt:P23434
GLDCGlycine dehydrogenase (decarboxylating), mitochondrialDisease-causing germline mutation(s) inTolerante
FUNÇÃO

The glycine cleavage system catalyzes the degradation of glycine. The P protein (GLDC) binds the alpha-amino group of glycine through its pyridoxal phosphate cofactor; CO(2) is released and the remaining methylamine moiety is then transferred to the lipoamide cofactor of the H protein (GCSH)

LOCALIZAÇÃO

Mitochondrion

VIAS BIOLÓGICAS (1)
Glycine degradation
MECANISMO DE DOENÇA

Non-ketotic hyperglycinemia

Autosomal recessive disease characterized by accumulation of a large amount of glycine in body fluid and by severe neurological symptoms.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Tecido-específico)
Fígado
39.5 TPM
Linfócitos
30.1 TPM
Nervo tibial
17.3 TPM
Rim - Córtex
12.1 TPM
Rim - Medula
8.7 TPM
OUTRAS DOENÇAS (4)
glycine encephalopathy 1neonatal glycine encephalopathyinfantile glycine encephalopathyatypical glycine encephalopathy
HGNC:4313UniProt:P23378
PSPHPhosphoserine phosphataseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the last irreversible step in the biosynthesis of L-serine from carbohydrates, the dephosphorylation of O-phospho-L-serine to L-serine (PubMed:12213811, PubMed:14673469, PubMed:15291819, PubMed:25080166, PubMed:9222972). L-serine can then be used in protein synthesis, to produce other amino acids, in nucleotide metabolism or in glutathione synthesis, or can be racemized to D-serine, a neuromodulator (PubMed:14673469). May also act on O-phospho-D-serine (Probable)

LOCALIZAÇÃO

Cytoplasm, cytosol

VIAS BIOLÓGICAS (1)
Serine metabolism
MECANISMO DE DOENÇA

Phosphoserine phosphatase deficiency

An autosomal recessive disorder that results in pre- and postnatal growth retardation, moderate psychomotor retardation and facial features suggestive of Williams syndrome.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
27.3 TPM
Linfócitos
22.7 TPM
Pituitária
15.6 TPM
Testículo
15.5 TPM
Ovário
13.4 TPM
OUTRAS DOENÇAS (2)
PSPH deficiencyneu-laxova syndrome due to 3-phosphoserine phosphatase deficiency
HGNC:9577UniProt:P78330
SLC1A4Neutral amino acid transporter ADisease-causing germline mutation(s) inTolerante
FUNÇÃO

Sodium-coupled antiporter of neutral amino acids. In a tri-substrate transport cycle, exchanges neutral amino acids between the extracellular and intracellular compartments, coupled to the inward cotransport of at least one sodium ion (PubMed:24808181, PubMed:27272177, PubMed:34630942, PubMed:8910405). Exchanges neutral amino acids such as L- and D-serine, L-threonine, L-asparagine and L-alanine in a bidirectional way (PubMed:14502423, PubMed:26041762, PubMed:27272177, PubMed:34630942, PubMed:81

LOCALIZAÇÃO

Cell membraneMelanosome membrane

VIAS BIOLÓGICAS (1)
Amino acid transport across the plasma membrane
MECANISMO DE DOENÇA

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly

A neurodevelopmental disorder characterized by thin corpus callosum, severe progressive microcephaly, severe intellectual disability, seizures, spasticity, and global developmental delay. Most patients are unable to achieve independent walking or speech.

EXPRESSÃO TECIDUAL(Ubíquo)
Brain Nucleus accumbens basal ganglia
53.0 TPM
Linfócitos
52.1 TPM
Brain Caudate basal ganglia
44.9 TPM
Brain Anterior cingulate cortex BA24
41.7 TPM
Cérebro - Amígdala
39.9 TPM
INTERAÇÕES PROTEICAS (3)
OUTRAS DOENÇAS (1)
spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
HGNC:10942UniProt:P43007
PSAT1Phosphoserine aminotransferaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Involved in L-serine biosynthesis via the phosphorylated pathway, a three-step pathway converting the glycolytic intermediate 3-phospho-D-glycerate into L-serine (PubMed:36851825, PubMed:37627284). Catalyzes the second step, that is the pyridoxal 5'-phosphate-dependent transamination of 3-phosphohydroxypyruvate and L-glutamate to O-phosphoserine (OPS) and alpha-ketoglutarate (PubMed:36851825, PubMed:37627284). Acts as an inhibitor of ferroptosis in response to interferon-gamma (IFNG) by promotin

LOCALIZAÇÃO

VIAS BIOLÓGICAS (1)
Serine metabolism
MECANISMO DE DOENÇA

Phosphoserine aminotransferase deficiency

Characterized biochemically by low plasma and cerebrospinal fluid concentrations of serine and glycine and clinically by intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
212.8 TPM
Cérebro - Amígdala
147.1 TPM
Brain Spinal cord cervical c-1
141.2 TPM
Brain Anterior cingulate cortex BA24
119.5 TPM
Brain Caudate basal ganglia
117.0 TPM
OUTRAS DOENÇAS (2)
Neu-Laxova syndrome 2PSAT deficiency
HGNC:19129UniProt:Q9Y617
SLC6A9Sodium- and chloride-dependent glycine transporter 1Disease-causing germline mutation(s) inRestrito
FUNÇÃO

Sodium- and chloride-dependent glycine transporter (PubMed:8183239). Essential for regulating glycine concentrations at inhibitory glycinergic synapses Sodium- and chloride-dependent glycine transporter Sodium- and chloride-dependent glycine transporter

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (1)
SLC-mediated transport of neurotransmitters
MECANISMO DE DOENÇA

Glycine encephalopathy with normal serum glycine

An autosomal recessive, severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy.

EXPRESSÃO TECIDUAL(Ubíquo)
Brain Spinal cord cervical c-1
70.3 TPM
Skin Sun Exposed Lower leg
58.6 TPM
Skin Not Sun Exposed Suprapubic
49.2 TPM
Vagina
24.5 TPM
Substância negra
24.3 TPM
INTERAÇÕES PROTEICAS (1)
OUTRAS DOENÇAS (2)
atypical glycine encephalopathyinfantile glycine encephalopathy
HGNC:11056UniProt:P48067
AMTAminomethyltransferase, mitochondrialDisease-causing germline mutation(s) inTolerante
FUNÇÃO

The glycine cleavage system catalyzes the degradation of glycine

LOCALIZAÇÃO

Mitochondrion

VIAS BIOLÓGICAS (1)
Glycine degradation
MECANISMO DE DOENÇA

Glycine encephalopathy 2

A form of glycine encephalopathy, a metabolic disorder characterized by a high concentration of glycine in the body fluids. Affected individuals typically have severe neurological symptoms, including seizure, lethargy, and muscular hypotonia soon after birth. Most of them die within the neonatal period. Atypical cases have later disease onset and less severely affected psychomotor development.

VIAS REACTOME (1)
OUTRAS DOENÇAS (4)
glycine encephalopathy 2infantile glycine encephalopathyneonatal glycine encephalopathyatypical glycine encephalopathy
HGNC:473UniProt:P48728

Variantes genéticas (ClinVar)

1,150 variantes patogênicas registradas no ClinVar.

🧬 PHGDH: NM_006623.4(PHGDH):c.701G>T (p.Cys234Phe) ()
🧬 PHGDH: NM_006623.4(PHGDH):c.367C>T (p.Gln123Ter) ()
🧬 PHGDH: NM_006623.4(PHGDH):c.636del (p.Thr213fs) ()
🧬 PHGDH: NM_006623.4(PHGDH):c.510+1G>T ()
🧬 PHGDH: NM_006623.4(PHGDH):c.557T>A (p.Phe186Tyr) ()
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 serina ou da glicina

Centros de Referência SUS

21 centros habilitados pelo SUS para Doença do metabolismo da serina ou da glicina

Centros para Doença do metabolismo da serina ou da glicina

Detalhes dos centros

Hospital Universitário Prof. Edgard Santos (HUPES)

R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808

Serviço de Referência

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.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

XsMYB58 regulates XsLACS8 to promote the accumulation of seed oil in Yellowhorn.

The Plant journal : for cell and molecular biology2026 Mar

É importante notar que o artigo fornecido, "XsMYB58 regulates XsLACS8 to promote the accumulation of seed oil in Yellowhorn", não trata de distúrbios do metabolismo da serina ou glicina. Em vez disso, ele foca na genética e regulação da produção de óleo em plantas. Este estudo identificou os genes XsMYB58 e XsLACS8 como reguladores cruciais para o acúmulo de óleo nas sementes de Yellowhorn, uma planta com óleo rico em ácidos graxos insaturados e neurônicos raros. A pesquisa demonstra que XsMYB58 ativa diretamente XsLACS8, aumentando significativamente o conteúdo e o rendimento do óleo, com melhorias observadas em plantas transgênicas. Para pacientes e médicos, essa descoberta pode indiretamente levar à produção mais eficiente e abundante de óleos vegetais com perfis nutricionais aprimorados, úteis na alimentação e potencialmente como fonte de ácidos graxos benéficos.

🇧🇷 traduzido
#2

Gender-specific effects of sodium benzoate on cognitive improvement in individuals with dementia: a meta-analysis of randomized controlled trials.

European archives of psychiatry and clinical neuroscience2026 Mar 21

Uma meta-análise de ensaios clínicos randomizados revelou que o benzoato de sódio melhora significativamente a cognição em pacientes com demência ou comprometimento cognitivo leve. Este benefício foi mais pronunciado em mulheres, e o efeito do benzoato de sódio não foi influenciado pelo uso concomitante de outros medicamentos para demência. Estes achados sugerem um novo tratamento potencial para a disfunção cognitiva, especialmente em pacientes femininas.

🇧🇷 traduzido
#3

A cell cycle-dependent transition of acetylation to phosphorylation regulates timely centrosome maturation.

Nature communications2026 Mar 20

Este estudo descreve um mecanismo fundamental para a divisão celular correta, onde uma transição de modificação em uma proteína (RNF40) é essencial para o amadurecimento dos centrossomos. Se essa transição falhar, a divisão celular ocorre de forma incorreta, levando à morte celular. Para médicos e pacientes, compreender esse controle molecular é crucial, pois desregulações na divisão celular são a base de doenças como o câncer, sugerindo possíveis novos alvos terapêuticos para manipular ou restaurar esse processo vital.

🇧🇷 traduzido
#4

A soybean EIN transcription factor confers resistance to Phytophthora sojae and favorable agronomic traits.

Plant cell reports2026 Mar 19

É importante notar que o artigo fornecido **não aborda distúrbios do metabolismo de serina ou glicina** em humanos ou animais, nem tem relevância direta para pacientes ou médicos nesse contexto. O resumo do artigo científico trata exclusivamente da planta soja e sua resistência a patógenos agrícolas. Baseado no resumo do artigo científico fornecido (e não no título sobre metabolismo de serina/glicina): Um fator de transcrição na soja, o GmPEIN3, foi identificado como capaz de aumentar a resistência da planta ao patógeno *Phytophthora sojae*, ao mesmo tempo em que melhora características agronômicas importantes para o rendimento. Ele opera modulando a sinalização do etileno e os sistemas de defesa antioxidante da soja. Esta descoberta oferece um alvo genético promissor para desenvolver variedades de soja que sejam simultaneamente mais resistentes a doenças e de alta produtividade agrícola.

🇧🇷 traduzido
#5

Catabolism of extracellular glutathione supplies cysteine to support tumours.

Nature2026 Mar 18

Este estudo revela que a glutationa (GSH) presente no ambiente externo aos tumores, e não apenas a interna, é uma fonte vital de aminoácidos, especialmente cisteína, para o crescimento tumoral. A inibição das enzimas gama-glutamiltransferases (GGTs), responsáveis pela quebra dessa glutationa extracelular, demonstrou reduzir os níveis de cisteína nos tumores e desacelerar seu crescimento. Isso sugere uma nova e promissora estratégia terapêutica para pacientes com câncer, focando em privar os tumores desses nutrientes essenciais.

🇧🇷 traduzido

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 199

2026

[Synthesis of glycine betaine affects salt tolerance of Bacillus paralicheniformis].

Sheng wu gong cheng xue bao = Chinese journal of biotechnology
2026

Arenarine D Promotes Pancreatic β Cell Proliferation Via DYRK1A Inhibition for T1DM Therapy.

Chemistry & biodiversity
2026

A mitochondrial-neuroinflammation-D-serine connection in epilepsy.

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

Proximity labelling suggests association of the nonhost receptor PSS1 protein with enzymes of multiple defense pathways in Arabidopsis.

Frontiers in plant science
2026

Ursodeoxycholic Acid Alleviates DSS/AOM-Induced Colorectal Cancer in Mice by Inhibiting PI3K/Akt/mTOR Signaling Pathway.

Drug design, development and therapy
2026

Dietary supplementation of coconut meat modulates growth performance, nutritional composition, and internal regulation in Chinese mitten crab (Eriocheir sinensis).

Frontiers in nutrition
2026

TEM-based Study of the Phenotype of Astrocytes Differentiated from Induced Pluripotent Stem Cells from a Healthy Donor and a Patient with Parkinson's Disease.

Sovremennye tekhnologii v meditsine
2026

Discovery and research progress of CDK8 inhibitors.

Biochemical pharmacology
2026

XsMYB58 regulates XsLACS8 to promote the accumulation of seed oil in Yellowhorn.

The Plant journal : for cell and molecular biology
2026

Gender-specific effects of sodium benzoate on cognitive improvement in individuals with dementia: a meta-analysis of randomized controlled trials.

European archives of psychiatry and clinical neuroscience
2026

Network Pharmacology and Computational Approach to Unveiling the Mechanism of Berberine in Depression.

Current neuropharmacology
2026

A cell cycle-dependent transition of acetylation to phosphorylation regulates timely centrosome maturation.

Nature communications
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

Hsa_circ_0000313/miR-1224-3p/MKNK2 Axis Modulates CD4+ T Cells by Activating p38 MAPK Signaling in Myasthenia Gravis.

Mediators of inflammation
2026

Expanding horizons: radiolabeled FAPI in imaging of autoimmune diseases.

Frontiers in immunology
2026

Integrated proteomic and single-cell transcriptomic profiling elucidates immunomodulatory effects of L-serine in autism spectrum disorder.

Scientific reports
2026

[Effects and mechanisms of resveratrol on vascular smooth muscle cell proliferation and neointimal hyperplasia in a carotid artery injury model].

Zhonghua yi xue za zhi
2026

Bileomic identification and quantification of bile acids in rat kidney by UPLC-MS/MS.

Steroids
2026

Echinacoside regulates the IRE1/XBP1 signaling pathway through HSP72 to reduce endoplasmic reticulum stress and improve diabetic kidney disease.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2026

Development of kallikrein-related peptidase 7 (KLK7) inhibitors and use in a species-adapted model for ovarian cancer.

Biological chemistry
2026

A soybean EIN transcription factor confers resistance to Phytophthora sojae and favorable agronomic traits.

Plant cell reports
2026

Regulator of Calcineurin 1 Aggravates Tubular Epithelial Cell Injury in Diabetic Mice Through Promoting Liver Kinase B1 Ubiquitination.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2026

Neuroprotective effects of DPP-4 inhibitors sitagliptin and vildagliptin in Parkinson's disease via autophagy modulation.

3 Biotech
2026

Quantifying venom in African snakes: Insights into protein content, yield and body size associations.

Toxicon: X
2026

Zanthoxylum armatum Essential Oil Attenuates MPP+-Induced Overexpression of Serine Palmitoyltransferase and Neurotoxicity in SH-SY5Y Cell Culture Model of Parkinson's Disease: Evidence From In Vitro and In Silico Studies.

Chemistry & biodiversity
2026

Catabolism of extracellular glutathione supplies cysteine to support tumours.

Nature
2026

Intracellular Aβ42 Sequestration by a Serine Protease Mitigates Neurotoxicity in a Drosophila Alzheimer's Disease Model.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2026

Dexmedetomidine inhibits fear memory consolidation via the astrocyte-specific Srebf1-Phgdh pathway in the prelimbic prefrontal cortex.

Cell reports
2026

S1P-sPRR axis in renal ischemia-reperfusion injury: inflammation via a cut.

Clinical science (London, England : 1979)
2026

N‑Alkyl and N‑Aryl Aminopyrazole Spirocarbamates: A Two-Pronged Lead Optimization Strategy to Identify Orally Bioavailable Plasma Kallikrein Inhibitors.

ACS medicinal chemistry letters
2026

SKA2 promotes gastric cancer progression by regulating glutathione metabolism.

iScience
2026

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

Cell death and differentiation
2026

Inosine promotes erythrocyte metabolic reprogramming and restores oxygen release for rejuvenation via 2,3-BPG-PNP axis.

Cell discovery
2026

Evaluation of serine protein kinase HPrK as an antibacterial target in gram-positive bacteria and mycoplasmas.

Microbiology spectrum
2026

Simultaneous inhibition of mTOR and STING as an approach to reduce alpha-synuclein and lysosphingolipid levels in peripheral blood monocytederived macrophages and the SH-SY5Y cell line: implications for therapy of Parkinson's disease.

Biomeditsinskaia khimiia
2026

A Potent Fibrinolytic Enzyme Alp1 from Cordyceps militaris: From Sequence-Function Characterization to in Vivo Antithrombotic Application.

Journal of agricultural and food chemistry
2026

Mistranslation from an endogenous tRNA variant in human pan-genome cell lines.

Nucleic acids research
2026

Nonlinear Bivariate Associations and Mononuclear Cell-Type-Specific Expression Level Differences in the STING Signalling Pathway.

Journal of cellular and molecular medicine
2026

Identification, characterization, and expression profiling of genes encoding tubby-like proteins in rice exposed to realistic environmental contamination of anilofos and bentazone.

Journal, genetic engineering & biotechnology
2026

[Protective mechanism of electroacupuncture on gastric mucosa in rats with chronic atrophic gastritis based on PI3K/AKT/mTOR signaling pathway].

Zhongguo zhen jiu = Chinese acupuncture & moxibustion
2026

Pharmaco-behavioral profiling identifies suppressors of autism gene-associated phenotypes in zebrafish.

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

Multi-omics analysis identifies CCNB1 as a cell cycle factor driving glioblastoma progression and its inhibition by resveratrol.

PloS one
2026

An Atherosclerosis Model in Mice Induced by Both Partial Carotid Ligation and Overexpression of PCSK9.

Journal of visualized experiments : JoVE
2026

Stage-specific GWAS identifies a pleiotropic ankyrin repeat locus near GmSALT3 for salinity tolerance in soybean.

Plant cell reports
2026

Targeting the mTOR Pathway with Natural Products: A Potential Therapeutic Approach for Autism Spectrum Disorders.

Current neuropharmacology
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

CAR T cell therapy for fighting IPF: perspectives on a living drug.

Frontiers in immunology
2025

Machine learning-assisted analysis of serum metabolomics for identifying biomarkers in intrinsic and idiosyncratic drug-induced liver injury.

Frontiers in pharmacology
2026

The blaKPC-249 -mediated mechanism drives the transition of ST463 Pseudomonas aeruginosa from Ceftazidime-Avibactam sensitivity to resistance during clinical treatment.

Frontiers in cellular and infection microbiology
2026

Influence of left main-left circumflex artery angle on long-term outcomes in crossover stenting for ostial left circumflex artery lesions: insights from the Multicenter CROSS-LCX Registry.

Coronary artery disease
2026

Peripheral RIPK2 degradation improves neurological outcomes after experimental ischemic stroke.

Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism
2026

Validation of human kallikrein 6 in the cerebrospinal fluid of patients with progressive and non-progressive alzheimer's disease: correlation with other biomarkers.

Clinical proteomics
2026

The hippo-YAP1/TEAD1-SLC7A5 axis: uncovering a novel therapeutic target for oxalate-induced renal tubular ferroptosis.

Redox report : communications in free radical research
2026

Proteinase 3 Drives Murine Diabetic Kidney Disease by Mediating Caspase-3-dependent Apoptosis of Podocytes.

Kidney international
2026

Evidence from multicenter clinical studies and humanized mouse models indicates that glomerular mesangial IgA2 deposition contributes to the pathogenesis of IgA nephropathy.

Kidney international
2026

Screening of Bradyrhizobium ottawaense with High N2O-reducing Activity from Soybean Nodules in Japan.

Microbes and environments
2026

Bioactivation and Metabolism of Amino Acid MDMA Prodrugs in Zebrafish Embryos, Human Liver S9, Whole Blood, and Microdosed Human Urine.

Drug testing and analysis
2026

Seed ageing increases the influence of native microorganisms on germination.

Microbiological research
2026

Molecular Docking and Dynamics-Based Repurposing of Thalidomide and Lenalidomide for GSK-3β Inhibition in AD.

CNS & neurological disorders drug targets
2026

Glycine alleviates the intestinal epithelial barrier damage induced by imidacloprid via promoting metabolic detoxification.

Ecotoxicology and environmental safety
2026

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

Current pharmaceutical design
2026

The parasite Parvilucifera infectans kills the harmful alga Alexandrium minutum under different salinities and disrupts PSP toxin production.

Harmful algae
2026

Cerebellar hypoplasia caused by CASK deficiency.

Molecules and cells
2026

Biomimetic smartphone sensor for point-of-care l-dopa monitoring.

Talanta
2026

Isoliquiritigenin restores bone homeostasis in osteoporotic rats by enhancing BMSCs osteogenesis via ERK1/2-mTOR-HIF-1α-glycolytic axis and suppressing inflammation.

International immunopharmacology
2026

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

Foods (Basel, Switzerland)
2026

The Usefulness of Metformin and Ganwei for Metabolic Dysfunction-Associated Steatotic Liver Disease: A Randomized, Placebo-Controlled Trial.

International journal of molecular sciences
2026

Uncovering the Potential Mechanisms of Ergothioneine in Neuroinflammation Through Network Pharmacology, Molecular Docking, Molecular Dynamics Simulation, and In Vitro Validation.

International journal of molecular sciences
2026

Genome-Wide Identification and Analysis of Plant Cysteine Oxidase (PCO) Family Genes and Expression Pattern Under Abiotic Stresses in Medicago sativa.

International journal of molecular sciences
2026

Dissecting the Phospho-Regulatory Landscape of Protein Kinase N1 (PKN1) and Its Downstream Signaling: Functional Insights into the Activity-Dependent and Disease-Relevant Phosphosites.

International journal of molecular sciences
2026

Glycogen Synthase Kinase 3 (GSK3) Gene Family in Glycine max Under the Effect of Manganese Stress.

International journal of molecular sciences
2026

GNMT and Its Regulatory MicroRNAs as Biomarkers and Therapeutic Targets for Metabolic Dysfunction-Associated Fatty Liver Disease and Hepatocellular Carcinoma.

International journal of molecular sciences
2026

Chondrogenesis of Peripheral Blood-Derived Mesenchymal Stromal Cells.

Cells
2026

The Interferon-miR-146a-5p-Stat1/Nrf2 Pathway Mediates LRRK2-R1441G-induced M1 over M2 Microglia Activation.

Molecular neurobiology
2026

Phase Ib multicenter study of anti-TIM-3 (S095018/Sym023) in combination with anti-PD-1 (Sym021) in patients with advanced/metastatic recurrent biliary tract cancer.

Journal for immunotherapy of cancer
2026

CircRNA-encoded RIPK1-98 protein drives lung adenocarcinoma progression.

Developmental cell
2026

Enhancing tenderness and flavor of microwave-dried shrimp through ultrasonic-assisted papain pretreatment: Effects and mechanisms.

Ultrasonics sonochemistry
2026

Comparative Analysis of Flesh Quality in Triploid and Allotetraploid Pengze Crucian Carp: Nutritional Composition, Flavor Profile, Texture Properties, and Metabolomics Insights.

Biology
2026

Integrated network toxicology and computational profiling of acetyl tributyl citrate-related mechanisms in Alzheimer's disease.

Journal of Alzheimer's disease : JAD
2026

Depleting HIF‑1α attenuates the progression of osteosarcoma, but tumorigenicity is sustained through HIF‑independent pathways.

Oncology reports
2025

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

Food science of animal resources
2026

A system biology-based identification of potential biomarker interlinking the effect of anti-diabetic drug, Metformin, on reduced occurrence of hepatocellular carcinoma.

Journal of diabetes and metabolic disorders
2026

African swine fever virus pI73R hijacks host mRNA to suppress interferon beta and reveals a druggable target for antiviral intervention.

Emerging microbes & infections
2026

Effects of Immunoadsorption on Markers of Iron Metabolism: A Case Series.

Journal of clinical apheresis
2026

Mitochondrial uncoupling inhibits serine catabolism via FTO activation in metastatic breast cancer.

Cancer biology & medicine
2026

Plasma Elastase Screening in Hematological Disease Reveals Its Potential as a Diagnostic and Prognostic Biomarker in Hematological Malignancies.

International journal of laboratory hematology
2026

Tuberous sclerosis complex.

Nature reviews. Disease primers
2026

Eukaryotic elongation factor 2 kinase (eEF2K): Mechanisms and pharmacological significance in metabolic diseases.

International journal of biological macromolecules
2026

Physiological disruption, genotoxicity, and body condition impairment in Caiman latirostris yearlings exposed to environmentally relevant pesticide concentrations.

The Science of the total environment
2026

Influence of management and air quality conditions on development of respiratory and gastroenteric disease, and antibiotics phenotypic resistance in domestic canaries (Serinus canaria domesticus).

Avian pathology : journal of the W.V.P.A
2026

Prenatal exposure to metal mixtures and the risk of overweight and obesity in school-aged children: insights from metabolomic profiling.

Frontiers in nutrition
2026

[Analgesic mechanism of Entadae Semen based on its in vivo material basis and regulation of SRC-mediated microglial polarization in a rat model of chronic compression of dorsal root ganglion].

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

[Saikosaponin B2 improves depressive behavior of VaD mice by promoting oligodendrocyte maturation via regulating Akt/mTOR pathway].

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

[Effects of Acanthopanax senticosus extract on Parkinson's disease mice via untargeted lipidomics across multiple brain regions].

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

[Advantageous therapeutic pathways and mechanisms of Jianpi Huogu Formula in treating steroid-induced osteonecrosis of femoral head based on multi-source heterogeneous data integration of disease-syndrome-formula framework].

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

GALNT3 Inhibits the Progression of Cerebral Ischemia-Reperfusion Injury by Stabilizing TREM2 via O-GalNAc Glycosylation.

CNS neuroscience & therapeutics
2026

D-serine and D-alanine supplementation protects against chronic kidney disease.

Scientific reports
2026

CSRP3 promotes skeletal muscle remodeling toward aerobic metabolism and enhances exercise endurance through increasing LDHD activity.

Metabolism: clinical and experimental
2026

A superoxide-driven pathway in the manganese cycle: Biogenic oxidation of Mn(II) by Pseudomonas sp. QJX-1 under glyphosate exposure.

Ecotoxicology and environmental safety
2026

A Stress Response Kinase Cascade Is Conserved in Arabidopsis and Modulated by a Parasite Effector.

Molecular plant-microbe interactions : MPMI
2026

Fibroblast-activation protein inhibitors based positron emission tomography (PET) for assessing lung disease: A systematic review with meta-analysis.

Pulmonology
2026

Distinct polyp recurrence timing and STK11 mutation status underlie clinical heterogeneity in pediatric Peutz-Jeghers syndrome.

Journal of pediatric gastroenterology and nutrition
2026

Mitochondrial metabolism restoration via Tramiprosate suppresses mitochondrial ROS-driven foamy macrophage senescence post spinal cord injury.

Journal of orthopaedic translation
2026

Glycine receptors in circulating white blood cells regulated by neuroinflammation.

Frontiers in immunology
2026

Granzyme B from mast cells contributes to choroidal neovascularization in a model of wet age-related macular degeneration.

Frontiers in immunology
2026

Drip irrigation reduces upward translocation of heavy metals in soybeans by enhancing root retention and inhibiting xylem transport.

The Plant journal : for cell and molecular biology
2026

TDP-43 pathology triggers neuroinflammation and cognitive impairment by inducing microglial necroptosis.

EMBO molecular medicine
2026

The CDKL5 kinase undergoes liquid-liquid phase separation driven by a serine-rich C-terminal region.

Life science alliance
2026

NAD+ hydrolysis catalyzed by SelO is required for mitochondrial homeostasis.

Cell
2026

Glycine regulates in vitro nutrient sensing of porcine oocytes through AMPK-mTORC1.

Theriogenology
2026

Analysis of the mechanism of MKK4 participating in heat stress response in Mytilus coruscus.

Marine environmental research
2026

MdRLKT1-MdRAX2-MdMKS1 Module Positively Regulating Resistance to Cytospora mali in Apple.

Plant biotechnology journal
2026

ORMDL Proteins Turnover via Proteasome and Autophagy Is Cell-Type Dependent and Tied to Ceramide Homeostasis.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2026

Mechanistic insights into lenacapavir-induced off-pathway HIV-1 capsid assembly.

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

Crystal structure of Vibrio cholerae polysaccharide lyase RbmB bound to Vibrio polysaccharide (VPS) fragments provides insights into substrate recognition and cleavage.

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

Specific Metabolites Modulate Core Microbes and Microbial Interactions to Drive Fomesafen Dissipation in the Soybean Rhizosphere.

Journal of agricultural and food chemistry
2026

Cofilin hyperphosphorylation triggers TDP-43 pathology in sporadic amyotrophic lateral sclerosis.

Brain : a journal of neurology
2026

Engineering glyphosate tolerance in sugarcane through overexpression of a mutated version of its native EPSPS gene.

GM crops & food
2026

Multifunctional Glycine-Carbon Dots Protect Against Arsenic Hepatotoxicity Through Redox Balance and PI3K/AKT Activation.

International journal of nanomedicine
2026

Circadian oscillations in chromatin accessibility systematically orchestrate rhythmic gene transcription in soybean.

The Plant cell
2026

Parthenolide Attenuates Skeletal Muscle Atrophy Through Regulation of Protein Homeostasis and Inhibition of Inflammation.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2026

DRP1/DMNL-1-mediated mitochondrial fission augments Rickettsia parkeri replication in macrophages.

Infection and immunity
2026

ANXA1-mediated mTOR/FABP4 Inhibition Drives Antifibrotic Macrophage Reprogramming in Lupus Nephritis.

International journal of biological sciences
2026

A guide to selecting high-performing antibodies for Alpha-1-antitrypsin (UniProt ID: P01009) for use in western blot, immunoprecipitation and flow cytometry.

F1000Research
2026

Wenyang Decoction Ameliorates DSS-Induced Ulcerative Colitis by Regulating Macrophage Polarization and the PI3K/AKT/mTOR/HIF-1α Signaling Pathway.

Mediators of inflammation
2026

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

Frontiers in immunology
2026

Co-Administration Dosing of Ceftazidime-Avibactam and Aztreonam in Patients with Varying Renal Function for CRE Infections via Monte Carlo Simulation.

Infection & chemotherapy
2026

Glyphosate promotes calcium oxalate crystal-induced renal injury by modulating the PI3K/Akt-mediated mechanism.

Ecotoxicology and environmental safety
2026

Pesticide exposure among organic and conventional smallholder farmers in Costa Rica and Uganda: biomarker evidence on exposure determinants.

The Lancet. Planetary health
2026

Circulating Rhythmic Metabolites and Causal Risk of Type 2 Diabetes in Adults in the Canadian Longitudinal Study on Aging.

Diabetes, obesity & metabolism
2026

[Clinical application of PI3K/AKT/mTOR pathway testing in breast cancer].

Zhonghua bing li xue za zhi = Chinese journal of pathology
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

SGK1 inhibition restores excitability of cortical neurons derived from Alzheimer's disease patients.

Neurobiology of disease
2026

Dual Stress Postischemia Deprivation Depression via Metabolic Disturbance in Rodents.

The Journal of surgical research
2026

Untargeted LC-MS-based metabolic fingerprinting of Escherichia coli-associated urinary tract infections and urosepsis: Insights into the urine, serum, and bacterial interactomes.

Journal of pharmaceutical and biomedical analysis
2026

Early Development of Ocadusertib, a Selective Receptor-Interacting Serine/Threonine-Protein Kinase 1 Inhibitor.

Clinical and translational science
2026

Miro1 in Parkinson's Disease: A Key Regulator of Mitochondrial Homeostasis and Neurodegeneration.

Neuromolecular medicine
2026

Interaction between transient receptor potential vanilloid 4 and glutamate NMDA receptor subunit 1 mediates endoplasmic reticulum stress and neuroinflammation in postoperative delirium.

Molecular biomedicine
2026

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

Experimental & molecular medicine
2026

The larvicide temephos decreases the fertilization rate of rat spermatozoa by altering different processes of the acrosome reaction and actin polymerization.

Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association
2026

Lysine succinylation-mediated energy metabolism imbalance drives brain injury in acute diquat poisoning.

Toxicology and applied pharmacology
2026

Molecular evidence of Japanese encephalitis virus in poultry: Need to further elucidate JEV epidemiology.

Comparative immunology, microbiology and infectious diseases
2026

The expression of tyrosine kinase and threonine promotes the progression of lung adenocarcinoma and is linked to a negative prognosis.

Medicine
2026

Genome-wide characterization of soybean alcohol dehydrogenase (ADH) genes identifies GmADH13 as a positive regulator of the salt stress response.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik
2026

All-atom simulations reveal distinct pathways for αIIbβ3 activation by biochemical vs. mechanical cues.

Cellular and molecular life sciences : CMLS
2026

Assessment of ROS1 Gene Rearrangement in Non-Small Cell Lung Cancer: Concordance Between ROS1 SP384 Immunohistochemistry and ROS1 FISH Assay in a Single Center in Türkiye.

Turk patoloji dergisi
2026

The metabolic mechanisms of formaldehyde in the roots, stems and leaves of Dieffenbachia maculata.

International journal of phytoremediation
2026

Prognostic role of systemic inflammatory indices in predicting the severity of acute calculous cholecystitis.

Ulusal travma ve acil cerrahi dergisi = Turkish journal of trauma & emergency surgery : TJTES
2026

mTOR signaling pathway in primary Sjögren's syndrome: Pathogenesis and potential therapeutic targets (Review).

International journal of molecular medicine
2026

Characteristics of chromosomal instability‑related lncRNAs associated with progression and prognosis in breast cancer.

Molecular medicine reports
2026

Exploratory multi-omics analysis of gut microbiota and fecal metabolites in relation to serum S-equol levels in older adults with osteoporosis from a tropical community: a pilot study.

Frontiers in nutrition
2026

Tomato-Soy Juice Reduces Inflammation and Modulates the Urinary Metabolome in Adults With Obesity.

Molecular nutrition & food research
2026

Gut microbiota dysbiosis and metabolic abnormalities promote oxidative stress and fibrosis in idiopathic pulmonary fibrosis.

Scientific reports
2026

LRRK2 kinase mediates increased GCase activity in microglia in response to IFNγ-induced proinflammatory stimulation.

NPJ Parkinson's disease
2026

Genetic variations interact with polybrominated diphenyl ether exposure to alter lipid homeostasis.

Nature communications
2026

A Nuclear Effector of Magnaporthe oryzae Targets a Mitogen-Activated Protein Kinase to Suppress Basal Plant Defense.

Molecular plant-microbe interactions : MPMI
2026

The mechanism of oxidative stress induced by nanoplastics in Caenorhabditis elegans: Integrated analysis of transcriptomics and metabolomics.

Comparative biochemistry and physiology. Toxicology & pharmacology : CBP
2026

Characterization of the TREM-1 signaling landscape in human neutrophils.

PloS one
2026

Metabolic and behavioral effects of neurofibromin result from differential recruitment of MAPK and mTOR signaling.

PLoS genetics
2026

Immunogenicity of SARS-CoV-2 vaccine prototype based on virus-like particles of hepatitis B core antigen from genotype G and interleukin 12 expressing Semliki Forest virus as a genetic adjuvant.

The Journal of general virology
2026

Integration of proxy intermediate omics traits into a nonlinear two-step model for accurate phenotypic prediction.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik
2026

Understanding plant resilience by putting photosynthesis and photorespiration in the metabolic context.

Planta
2026

Complex interplay of riboregulatory mechanisms at the gcvT-NGFG_01513-gcvH operon of Neisseria gonorrhoeae.

Journal of bacteriology
2026

Defining the human lung pathodegradome of the V8 protease from Staphylococcus aureus.

Infection and immunity
2026

Platelet mTOR Is a Regulator of Sterile Immunothrombosis.

Arteriosclerosis, thrombosis, and vascular biology
2026

Role of LRRK2 in physiological activities, diseases, and therapy.

Chinese medical journal
2026

Changes in levels of endocannabinoidome mediators in mice with cancer cachexia: links with steatosis and gut microbial dysbiosis.

BJC reports
2026

Convergent evolutionary shifts in AGT targeting between mitochondria and peroxisomes across mammal transitions to herbivory.

Nature communications
2026

The signaling pathways of atherosclerosis regulated by Taohong Siwu Decoction.

Chinese journal of natural medicines
2026

Crossover Versus Ostial Single-stent Implantation for Ostial Left Circumflex Artery Lesions: the Multicenter CROSS-LCX Registry.

The Canadian journal of cardiology
2026

Large Airway Bronchial Wash Lipidomics as Novel Biomarkers for Chronic Lung Allograft Dysfunction.

The Journal of thoracic and cardiovascular surgery
2026

The bile acid-CoA ligase, FATP5, is necessary for synthesis of N-acyl taurines in the liver.

Journal of lipid research
2026

Comprehensive first-trimester targeted metabolomics for early prediction and understanding of GDM pathophysiology.

Frontiers in molecular biosciences
2026

Untargeted metabolomics reveals immune-metabolic signatures in established cases of rheumatoid arthritis.

Frontiers in molecular biosciences
2026

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

JHEP reports : innovation in hepatology
2026

Salt-Inducible Kinase as a Predictive Biomarker in Laryngeal Squamous Cell Carcinoma: Insights into Treatment Efficacy and Patient Survival.

Nigerian journal of clinical practice
2026

SPINK2 silencing suppresses leukemic proliferation and restores myeloid commitment via MECOM downregulation in acute myeloid leukaemia.

Cell death discovery
2026

Association of mitochondrial genetic background with pS65-Ub in Lewy body disease.

Acta neuropathologica
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

A tri-responsive sensor based on co-encapsulated organic probes and multifunctional bimetallic V/Ce-MOF nanozyme in a hydrogel for the detection of l-Serine in saliva.

Talanta
2026

Collectin-11 regulates osteoclastogenesis and bone maintenance via a complement-dependent mechanism.

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

Assessment of physical status and analysis of lipidomic and metabolomic alterations in patients with Post-COVID-19 condition.

PloS one
2026

Trimethoprim: bactericidal or bacteriostatic activity is dependent on bacterial growth conditions.

Journal of medical microbiology
2026

Revisiting the Nutritional and Health-Promoting Properties of Soy Protein-Based Food Formulations for Infants and Adults.

Comprehensive reviews in food science and food safety
2026

Saltiness Enhancement Modulated by Hydrophobic Mucoadhesion of Soy Hull Pectic-Like Polysaccharides within a Salivary Mucin Layer.

Journal of agricultural and food chemistry
2026

Glycyl-l-histidyl-l-lysine as a novel co-former in co-amorphous systems: Enhanced aqueous solubility and physical stability.

European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical Sciences
2026

Ixazomib triggers autophagic degradation of MUC5AC/integrin-β4 and inhibits non-small cell lung cancer progression.

Cancer letters
2026

Climate-driven divergence in biophysical and economic impacts of agrivoltaics.

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

Constitutive activation of TGF-β receptor type I promotes cortical and cancellous bone formation in adult mice.

PloS one
2026

Therapeutic Effects of Gualou Guizhi Antispasmodic Granules on Spasticity and PANoptosis in a Rat Model of Spinal Cord Injury.

Journal of visualized experiments : JoVE
2026

S-equol producing bacteria: isolation and identification from Albino Wistar rat gut microbiota.

Applied microbiology and biotechnology
2026

Imidazole Propionate Induces Kidney Damage by Activating the ROS-NLRP3 Signaling Pathway Through mTOR Inhibition of Autophagy in Renal Tubular Epithelial Cells.

Mediators of inflammation
2026

Viral mechanisms, tropism, and clinical relevance regarding the ophthalmic manifestations of SARS-CoV-2 infection.

International journal of ophthalmology
2026

ALDH1L2 orchestrates redox-growth coupling in renal carcinoma: pan-cancer evidence and mechanistic validation of the ROS-Akt/mTOR/S6K axis.

Frontiers in immunology
2026

N-acetyl-l-leucine lowers α-synuclein levels and improves synaptic function in Parkinson's disease models.

The Journal of clinical investigation
2026

Lipid Pocket Binders Impose Allosteric Changes of Protein Dynamics Around the Active Site of the Protein Kinase p38α.

Angewandte Chemie (International ed. in English)
2026

Symbiosis Islands of Bradyrhizobium Determine Relationships with Host Legumes Lespedeza cuneata and Glycine max.

Microbes and environments
2026

Engineering Escherichia coli for high-level poly(3-hydroxybutyrate) production: Recent advances and future perspective.

Biotechnology advances

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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. XsMYB58 regulates XsLACS8 to promote the accumulation of seed oil in Yellowhorn.
    The Plant journal : for cell and molecular biology· 2026· PMID 41865739mais citado
  2. Gender-specific effects of sodium benzoate on cognitive improvement in individuals with dementia: a meta-analysis of randomized controlled trials.
    European archives of psychiatry and clinical neuroscience· 2026· PMID 41863585mais citado
  3. A cell cycle-dependent transition of acetylation to phosphorylation regulates timely centrosome maturation.
    Nature communications· 2026· PMID 41862458mais citado
  4. A soybean EIN transcription factor confers resistance to Phytophthora sojae and favorable agronomic traits.
    Plant cell reports· 2026· PMID 41854874mais citado
  5. Catabolism of extracellular glutathione supplies cysteine to support tumours.
    Nature· 2026· PMID 41851454mais citado
  6. A mitochondrial-neuroinflammation-D-serine connection in epilepsy.
    Proc Natl Acad Sci U S A· 2026· PMID 41871258recente
  7. Network pharmacology analysis of integration of dietary plant-derived natural flavonoids and gut microbiota for the treatment of Polycystic Ovary syndrome (PCOS).
    Artif Cells Nanomed Biotechnol· 2026· PMID 41870379recente
  8. Ursodeoxycholic Acid Alleviates DSS/AOM-Induced Colorectal Cancer in Mice by Inhibiting PI3K/Akt/mTOR Signaling Pathway.
    Drug Des Devel Ther· 2026· PMID 41868179recente
  9. TEM-based Study of the Phenotype of Astrocytes Differentiated from Induced Pluripotent Stem Cells from a Healthy Donor and a Patient with Parkinson's Disease.
    Sovrem Tekhnologii Med· 2026· PMID 41867642recente
  10. Discovery and research progress of CDK8 inhibitors.
    Biochem Pharmacol· 2026· PMID 41865895recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:79194(Orphanet)
  2. MONDO:0019239(MONDO)
  3. GARD:18968(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q55788559(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Doença do metabolismo da serina ou da glicina
Compêndio · Raras BR

Doença do metabolismo da serina ou da glicina

ORPHA:79194 · MONDO:0019239
MedGen
UMLS
C5681286
Wikidata
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