Raras
Buscar doenças, sintomas, genes...
Doença do metabolismo do GABA
ORPHA:79175CID-11 · 5C59.1DOENÇA RARA

Um distúrbio metabólico de aminoácidos caracterizado por uma dificuldade na via de quebra do GABA.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Um distúrbio metabólico de aminoácidos caracterizado por uma dificuldade na via de quebra do GABA.

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

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

🧠
Neurológico
25 sintomas
📏
Crescimento
4 sintomas
🫘
Rins
3 sintomas
👁️
Olhos
2 sintomas
🦴
Ossos e articulações
1 sintomas
💪
Músculos
1 sintomas

+ 25 sintomas em outras categorias

Características mais comuns

Atrofia cerebral
Regressão do desenvolvimento
Anormalidade do metabolismo/homeostase
Coreoatetose
Dismielinização cerebral
Deterioração psicomotora progressiva
63sintomas
Sem dados (63)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 63 características clínicas mais associadas, ordenadas por frequência.

Atrofia cerebralCerebral atrophy
Regressão do desenvolvimentoDevelopmental regression
Anormalidade do metabolismo/homeostaseAbnormality of metabolism/homeostasis
CoreoatetoseChoreoathetosis
Dismielinização cerebralCerebral dysmyelination

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1
Últimos 10 anos200publicações
Pico2026111 papers
Linha do tempo
2025Hoje · 2026🧪 2013Primeiro ensaio clínico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

2 genes identificados com associação a esta condição.

ABAT4-aminobutyrate aminotransferase, mitochondrialDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the conversion of gamma-aminobutyrate and L-beta-aminoisobutyrate to succinate semialdehyde and methylmalonate semialdehyde, respectively (PubMed:10407778, PubMed:15528998). Can also convert delta-aminovalerate and beta-alanine (By similarity)

LOCALIZAÇÃO

Mitochondrion matrix

VIAS BIOLÓGICAS (1)
Degradation of GABA
MECANISMO DE DOENÇA

GABA-transaminase deficiency

An enzymatic deficiency resulting in psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. GABATD inheritance is autosomal recessive.

VIAS REACTOME (1)
OUTRAS DOENÇAS (1)
GABA aminotransaminase deficiency
HGNC:23UniProt:P80404
ALDH5A1Succinate-semialdehyde dehydrogenase, mitochondrialDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA)

LOCALIZAÇÃO

Mitochondrion

VIAS BIOLÓGICAS (1)
Degradation of GABA
MECANISMO DE DOENÇA

Succinic semialdehyde dehydrogenase deficiency

A rare inborn error of 4-aminobutyric acid (GABA) metabolism, which leads to accumulation of 4-hydroxybutyric acid in physiologic fluids of patients. The disease is clinically characterized by developmental delay, hypotonia, intellectual disability, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances.

VIAS REACTOME (1)
OUTRAS DOENÇAS (1)
succinic semialdehyde dehydrogenase deficiency
HGNC:408UniProt:P51649

Variantes genéticas (ClinVar)

334 variantes patogênicas registradas no ClinVar.

🧬 ABAT: NM_020686.6(ABAT):c.405del (p.Pro136fs) ()
🧬 ABAT: NM_020686.6(ABAT):c.1145G>A (p.Trp382Ter) ()
🧬 ABAT: NM_020686.6(ABAT):c.816+126G>T ()
🧬 ABAT: NM_020686.6(ABAT):c.667+158G>T ()
🧬 ABAT: NM_020686.6(ABAT):c.658_659del (p.Arg220fs) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

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

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico4
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 4 ensaios
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 do GABA

Centros de Referência SUS

21 centros habilitados pelo SUS para Doença do metabolismo do GABA

Centros para Doença do metabolismo do GABA

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

🟢 Recrutando agora

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

Outros ensaios clínicos

0 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Effects of GABAAR modulators CL218872 and MRK-016 on neural repair and synaptic plasticity in mice with Intracerebral hemorrhage.

PloS one2026

Intracerebral hemorrhage (ICH) is a devastating condition characterized by rapid onset, high rates of disability and mortality, and prolonged recovery. Dysregulated γ-aminobutyric acid type A receptor (GABAAR) signaling contributes to ICH-induced neurotoxicity, presenting a promising therapeutic target. To assess the neurorestorative effects of the GABAAR α1-selective partial positive allosteric modulator (PAM) CL218872 and the α5-selective negative allosteric modulator (NAM) MRK-016 on synaptic plasticity and neural repair following ICH. An ICH mouse model was constructed using collagenase IV, and ICH mice were administered the GABAAR modulators CL218872 or MRK-016. Differences in inflammation and neurological deficit score were compared between different groups of mice. Morphologic and functional changes in mouse neuronal cells were next determined by Nissl and Golgi-Cox staining. Synaptic structural changes in ICH mice were visualized by transmission electron microscopy, and changes in synaptic plasticity-related molecules were quantified to assess the effects of GABAAR modulators on synapses in ICH mice. Treatment with CL218872 resulted in a reduction in hemorrhage and improved neurobehavioral outcomes in ICH mice. Additionally, CL218872 mitigated inflammation by downregulating phospho-p65, IL-6 and TNF-α expression. Histological analysis revealed an increase in neuronal density, preservation of cell morphology, and enhanced synaptic connectivity following CL218872 treatment. Furthermore, synaptic structure was restored, and there was an upregulation of brain-derived neurotrophic factor (BDNF), growth-associated protein-43 (GAP-43), postsynaptic density protein 95 (PSD-95), and synaptophysin in ICH mice. However, treatment with MRK-016 yielded the opposite result. The GABAAR α1-selective PAM CL218872 exerts neuroprotective and neurorestorative effects in ICH, suggesting its therapeutic potential for ICH management.

#2

Amyloid-β as a target to suppress tonic PTH hypersecretion in hyperparathyroidism due to vitamin D deficiency.

Science translational medicine2026 Mar 18

Hyperparathyroidism is an endocrine disorder linked to vitamin D deficiency. Reduced vitamin D receptor (VDR) activity promotes parathyroid hormone (PTH) hypersecretion by increasing heterodimerization of the type B γ-aminobutyric acid receptor 1 (GABAB1R) with the extracellular Ca2+-sensing receptor (CaSR) in parathyroid cells; however, endogenous activators of the heterodimers are unknown. We uncovered increased expression of amyloid-β peptide cleaved from the amyloid-β precursor protein (APP) in parathyroid cells of patients with hyperparathyroidism and aging mice manifesting vitamin D deficiency and the ability of exogenous amyloid-β to promote tonic PTH secretion from cultured murine or human parathyroid glands. Conversely, parathyroid cell-specific App gene deletion reduced tonic PTH secretion and lowered serum PTH concentrations in mice. The absence of the amyloid-β effect on PTH secretion in parathyroid cells lacking CaSR or GABAB1R supported direct interactions of amyloid-β with the receptor heterodimers. In situ proteomic profiling of parathyroid cells of patients with hyperparathyroidism correlated lower serum 25-hydroxyvitamin D concentrations with increased GABAB1R/CaSR heterodimer expression, β-amyloidogenesis, and phosphorylation of Tau, a downstream effector of amyloid-β. Concurrent ablation of App or the Tau-encoding Mapt gene prevented tonic PTH hypersecretion in parathyroid cell-specific Vdr knockout mice. Likewise, weekly administration of an amyloid-β-neutralizing antibody suppressed tonic PTH hypersecretion and synergized with daily administration of cinacalcet, which activates CaSR homodimers, to reduce serum PTH concentrations in aged mice. These data demonstrated amyloid-β actions in driving tonic PTH secretion by activating GABAB1R/CaSR heterodimers and the potential of targeting amyloid-β to treat hyperparathyroidism due to vitamin D deficiency.

#3

Vagal GABAergic signaling in autonomic control of cardiometabolic function.

American journal of physiology. Cell physiology2026 Mar 11

Gamma-aminobutyric acid (GABA) and its receptors play a critical role in maintaining the balance between excitatory and inhibitory neurotransmission in the central nervous system, including autonomic regulatory regions that control cardiometabolic function. The vagal circuits facilitate bidirectional communication between peripheral organs and the brain to elicit autonomic reflexes and modulate complex adaptive behavior to preserve cardiometabolic homeostasis. Dampened vagal activity can lead to the development of cardiometabolic diseases. Emerging evidence over the past decade identifies inhibitory GABAergic signaling in key vagal regulatory regions as a potential mechanism underlying vagal dysfunction linked to cardiometabolic disease. In this review, we discuss recent studies exploring GABAergic signaling modulation in vagal circuits, focusing on the regulation of food intake, cardiac function, and glucose metabolism-critical physiological processes that are often disrupted in cardiometabolic disease. We outline GABAergic signaling properties within key vagal reflex circuits, namely, vagal sensory afferents, nucleus tractus solitarius, and vagal motor neurons, and discuss how cardiometabolic stressors, as well as disease states, remodel vagal GABAergic signaling.

#4

Epigenetically regulated pancreatic GABA-somatostatin signaling underlies gestational diabetes-induced glucose intolerance in offspring.

Science translational medicine2026 Mar 04

Gestational diabetes mellitus (GDM) can increase the risk for diabetes in offspring, but the mechanisms underlying the effects of intrauterine hyperglycemia (IHG) on the fetus remain unknown. Here, we show that IHG down-regulated DNA demethylases TET2/3 in fetal pancreatic islets, increased DNA methylation of γ-aminobutyric acid (GABA) synthesis gene Gad1, suppressed Gad1 expression, and elevated somatostatin (SST) protein in the pancreas in mice. Pancreas-specific double knockout (DKO) of Tet2/3 recapitulates the IHG effects, causing Gad1 hypermethylation and expression down-regulation, alongside impaired insulin secretion and glucose tolerance. Metabolomic analysis revealed that IHG and Tet2/3 DKO reduced pancreatic GABA content. Gestational dietary GABA supplementation improved metabolic defects in both IHG and Tet2/3 DKO models. scRNA-seq analysis of pancreatic islets showed that IHG or Tet2/3 DKO down-regulated the β cell signature, whereas up-regulating δ cell-related genes, particularly Sst, led to the emergence of an Ins2/Sst double-positive cell population. β cell-specific deletion of Sst rescued IHG-induced metabolic defects. In humans, GDM was associated with reduced GABA content in the umbilical arterial blood. These results uncover an epigenetically controlled pancreatic GABA-SST signaling pathway that may contribute to the GDM-induced increase in offspring diabetes risk and identify dietary GABA supplementation as a potential interventional strategy.

#5

The bridging role of gut microbiota-derived metabolites in neuropathic pain comorbid with anxiety.

Frontiers in neuroscience2026

Neuropathic pain (NP) is a chronic pain condition caused by damage or disease of the somatosensory system and often forms a comorbid state with anxiety, severely affecting patients' quality of life. The occurrence of this comorbidity involves the interplay of multiple mechanisms, including neuroinflammation, metabolic abnormalities, the hypothalamic-pituitary-adrenal (HPA) axis dysregulation, and imbalances in central neurotransmitter systems. In recent years, research on the mechanisms by which gut microbiota-derived metabolites regulate NP and anxiety via the "gut-brain axis" has garnered increasing attention. Among the numerous gut microbiota-derived metabolites, lipopolysaccharide (LPS), short-chain fatty acids (SCFAs), bile acids (BAs), serotonin (5-HT), and γ-aminobutyric acid (GABA) are considered key signaling molecules. They collectively participate in the pathological process of NP-anxiety comorbidity by regulating immune responses, metabolic pathways, and neural pathways. This review focuses on these five metabolites, analyzing the bridging role of their functional abnormalities in this comorbidity and future directions in this field.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 200

2026

Effects of GABAAR modulators CL218872 and MRK-016 on neural repair and synaptic plasticity in mice with Intracerebral hemorrhage.

PloS one
2026

Pregnanolone-Based Prodrugs as a Strategy for Neuroprotective Drug-Like Compounds: Pregnanolone Pyroglutamate and Its Age‑dependent Anticonvulsant Effects in the 6-hz Seizure Model in Immature Rats.

Drug design, development and therapy
2026

Creatine pyruvate and gamma-aminobutyric acid mitigate heat stress in goats: Mechanistic insights from antioxidant function, ruminal epithelial barrier integrity, and transcriptomics.

Journal of thermal biology
2026

Amyloid-β as a target to suppress tonic PTH hypersecretion in hyperparathyroidism due to vitamin D deficiency.

Science translational medicine
2026

From Refractory Epilepsy to Neurodegeneration: Emerging Mechanistic and Clinical Insights Into the Ketogenic Diet.

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

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

Amino acids
2026

Effects of in vitro fermentation of Astragalus polysaccharide on gut microbiota and neurotransmitter metabolites in patients with major depressive disorder.

Frontiers in psychiatry
2026

Neuroprotective effects of pregabalin in experimental spinal cord injury: An investigation of oxidative stress and antioxidant enzymes in blood and neural tissue.

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

Vagal GABAergic signaling in autonomic control of cardiometabolic function.

American journal of physiology. Cell physiology
2026

Zolpidem restores sleep and decreases amyloid in a mouse model.

Alzheimer's & dementia : the journal of the Alzheimer's Association
2026

Combined exposure of cold and hypoxia: a driver for hypertension and the underlying role of the microbiota-gut-brain axis.

Journal of hypertension
2026

Subtype-Specific Roles of Anterior Cingulate Cortex Neurons in Pain-Induced Social Deficits in Mice.

Theranostics
2026

Transcriptomic analysis and machine learning have identified shared diagnostic genes and a possible mechanism linking bipolar disorder and epilepsy.

Medicine
2026

Early-life adversity induces metabolic alterations in a rodent model of depression: a differential stress response perspective.

Acta neuropsychiatrica
2026

Epigenetically regulated pancreatic GABA-somatostatin signaling underlies gestational diabetes-induced glucose intolerance in offspring.

Science translational medicine
2026

The bridging role of gut microbiota-derived metabolites in neuropathic pain comorbid with anxiety.

Frontiers in neuroscience
2026

Metabolism-corrected propofol exposure intensity and long-term intelligence quotient in pediatric febrile infection-related epilepsy syndrome: a retrospective cohort study.

Frontiers in medicine
2026

The effect of glutamatergic modulators on sleep behavior and architecture in depressive disorders: A systematic review.

Journal of psychiatric research
2026

Ion Channel Dysregulation in Neurodevelopmental Disorders: Mechanisms, Models, and Therapeutic Advances.

Frontiers in bioscience (Landmark edition)
2026

The β-amyloid-induced increased tonic conductance, impaired long-term potentiation and cognitive deficits characteristic of Alzheimer's disease are reversed by an α5 inverse agonist of the GABA type A receptor.

Neuropharmacology
2026

4,5-dihydroxyhexanoic acid is a robust circulating and urine marker of mitochondrial disease and its severity.

bioRxiv : the preprint server for biology
2026

Venlafaxine combined with γ-aminobutyric acid exerted improved antidepressant and anxiolytic effects through modulating neurotransmitters and neuroplasticity.

Physiology & behavior
2026

Therapeutic potential of Cuscutae Semen and Rehmanniae Radix Preparata in age-related central hearing loss associated with Gad1 regulation.

Journal of ethnopharmacology
2026

Ventral hippocampal NPY interneurons regulate circadian feeding in mice.

Neuron
2026

Recent advances in GABAA receptor targeting ligands.

European journal of medicinal chemistry
2026

Assessing effects of microwave electromagnetic field in APP/PS1 mice by in vivo GABA-weighted imaging via variable delay multipulse-chemical exchange saturation transfer MRI.

Neurochemistry international
2026

A Novel Functional Ingredient Derived From a Mixture of Mulberry (Morus alba L.) Leaves and Butterfly Pea (Clitoria ternatea L.) Flowers Enhances Rapid Eye Movement Sleep, Cognitive Function, and Anxiolytic Behavior via GABAA Receptor-Dependent Mechanism in Rats.

Oxidative medicine and cellular longevity
2026

The impact of predator stress on electroshock seizure threshold: insights into GABAergic, glutamatergic, and serotonergic pathways in mice.

Behavioral and brain functions : BBF
2026

Posterior cingulate GABA levels are associated with depression severity during the premenstrual phase in women.

Journal of affective disorders
2026

Eukaryotic initiation factor 4E: a key factor of traumatic stress-induced depression-related cognitive decline at different age.

Translational psychiatry
2026

Neurometabolics of the anterior cingulate cortex (ACC) in major depressive disorder (MDD): A systematic review and meta-analysis.

NeuroImage. Clinical
2026

Effects of gestational perfluorohexanesulfonic acid exposure at human realistic dose on social communication deficit in mouse offspring.

EBioMedicine
2026

Exercise alleviates allodynia and hyperalgesia concomitant with improvements in aberrant primary afferents and spinal circuit inhibition in the dorsal horn of rats with incomplete spinal cord injury.

PeerJ
2026

A human electrophysiological signature of Fragile X pathophysiology is shared in V1 of Fmr1-/y mice.

Nature communications
2026

Identification of an Angiotensin-(1-7)-Producing fusion protein in the brain of transgenic rats Reveals a hypotensive effect mediated through modulation of the GABA-nNOS-NO pathway and highlighting Astrocyte-Neuron crosstalk.

Neuroscience
2026

The Application of Copper Nanoparticles Green Formulated by Boswellia thurifera in the Treatment of Epilepsy.

Journal of biomedical materials research. Part B, Applied biomaterials
2026

Neuroprotection via IGF-1 neuronal signaling activation by melatonin and edaravone synergy in methylmercury-induced ALS-like neurotoxicity: Comprehensive analysis of brain regions, spinal cord, CSF, and blood plasma.

Neurotoxicology
2026

ABCA7 deficiency exacerbates glutamate excitotoxicity in Alzheimer's disease mice - A new pharmacological target for Glu-related neurotoxicity.

Progress in neurobiology
2026

Aniracetam restores the excitation-inhibition balance of neurotransmitters in the prefrontal cortex of mice with ADHD.

Scientific reports
2026

SIRT3 attenuates chronic pain-induced depressive-like behaviors by deacetylating CypD at lysine 166 in central amygdala.

European journal of pharmacology
2026

Vascular transcriptional and metabolic changes precede progressive intrarenal microvascular rarefaction in autosomal dominant polycystic kidney disease.

American journal of physiology. Renal physiology
2026

Plasma KCC2, NKCC1, and GABA as peripheral biomarkers in autism spectrum disorder: a combined ROC analysis.

Metabolic brain disease
2026

Unravelling GABA Dysfunction in Autism: Pathophysiological Insights and Emerging Treatments.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
2026

Genome-wide association study of major anxiety disorders in 122,341 European-ancestry cases identifies 58 loci and highlights GABAergic signaling.

Nature genetics
2026

Neurotransmitter abnormalities in primary tic disorders and Tourette syndrome.

Handbook of clinical neurology
2026

Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.

JIMD reports
2026

Metabolic shifts, a consequence of hyperosmolarity, are a hallmark of mental disorders.

Journal of psychiatric research
2026

Polysaccharide Engineered Nanozymes Target Inflammation for Alleviating Colitis-Associated Mental Disorders via Microbiome-Gut-Brain Axis.

Advanced materials (Deerfield Beach, Fla.)
2026

GC-MS correlated-antiepileptic screening for probable GABA-modulator by PTZ-induced acute seizure model in Swiss albino mice and phytochemical profiling of ethanol extract of Ficus benghalensis.

Pakistan journal of pharmaceutical sciences
2026

GABA corelease guides the functional maturation of glycinergic synapses in an auditory sound localization circuit.

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

Integrated Analysis of Proteomics and Metabolomics Uncovered the Anti-Inflammatory Mechanisms of Baicalin in CIA Rat FLS.

Current issues in molecular biology
2026

Identification of a pathological feed-forward loop linking succinate, HIF1α signalling and vascular remodelling in abdominal aortic aneurysm.

European journal of clinical investigation
2026

Neurotransmitter alterations in seasonal affective disorder.

Scientific reports
2026

Structural basis for selective inhibition of human GABA transporter GAT3.

Nature communications
2026

Adjunctive probiotic therapy sustains symptom relief in gastroesophageal reflux disease through gut microbiome-metabolome remodeling.

mSystems
2026

Chemosensing of an Autism Biomarker, Gamma-Aminobutyric Acid, by Electropolymerized Molecularly Imprinted Polymers.

ACS sensors
2026

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.

Epilepsia
2025

Shuyu capsule improves estrous cycle-dependent depression-like behavior in premenstrual dysphoric disorder (PMDD) mice by increasing GABAergic neuronal activation and downregulating GABAAR δ subunit expression in the dorsal periaqueductal gray (dPAG) region.

Journal of Zhejiang University. Science. B
2026

Calretinin Contributes to Trigeminal Neuropathic Pain Downstream of Cavα2δ1.

ACS chemical neuroscience
2026

Differential GABA dynamics across brain functional networks in autism.

Communications biology
2026

Integrated multi-omics analysis reveals gamma-aminobutyric acid as a key regulator of social genetic effects on residual feed intake in pigs.

Genomics
2026

Discovery of the Underlying Mechanism of Ginger Juice Processed Ziziphi Spinosae Semen for Its Sedative-Hypnotic Effect on Insomnia Mice via Regulation of HPA Axis and cAMP/PKA Signaling Pathway.

Molecular nutrition & food research
2026

Lactiplantibacillus plantarum Lp815 improves sleep and increases urinary GABA in a randomized, double-blind, placebo-controlled study of sleep disturbance.

Scientific reports
2026

Mechanism of tea polyphenols improving sleep by regulating neurotransmitters through the gut microbiota-brain axis.

The Journal of nutritional biochemistry
2026

GABAergic dynamics in thalamocortical circuits: Insights into absence seizures and hyperinhibition.

European journal of pharmacology
2026

In Utero Exposure to Pregabalin: Interest of Meconium Analysis - A Case Report.

Fetal and pediatric pathology
2026

Loss of Thy1 in Cortico-Striatal Pathways Alters Response to Dopamine and Gabapentin.

ASN neuro
2026

Gut virome plays an extended role with bacteriome in neurological health and disease.

Journal of the neurological sciences
2026

Longitudinal changes in neurometabolites in pediatric migraine across child development: a pilot study.

Scientific reports
2026

Long term cognitive impairments following hypoxia-induced neonatal seizure restored by MSC-derived exosomes injection: Role of glutamatergic and GABAergic receptors.

European journal of pharmacology
2026

Elevated neurotransmitter levels in people with HIV are associated with attention function.

Neurobiology of disease
2026

Focus on the excitatory and inhibitory neurotransmission imbalance in amyotrophic lateral sclerosis: a harmful disease player or a potential therapeutic opportunity?

Neurobiology of disease
2026

GLP-1, Pancreatic β-Cells, and Insulin Secretion: What We Know and Where We Need to Go.

Diabetes
2026

Neuron-specific WDR5 epigenetically upregulates ARID5B to impair GABAergic synaptic transmission and promotes epileptogenesis.

Theranostics
2025

Effects and Mechanisms of Wendan Decoction on Anxiety,Fear,and Insomnia in the Rat Model of Insomnia Due to Heart-Gallbladder Qi Deficiency.

Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae
2026

Development of a Novel Benzodiazepine to Delineate Peripheral GABA-A Signaling Mechanisms in Visceral Pain Syndromes.

Cellular and molecular gastroenterology and hepatology
2026

Use of gabapentin with or without a prescription in substance use treatment settings: A national analysis of urine drug testing data, 2016-2023.

Drug and alcohol dependence
2026

Deep Brain Stimulation of Lateral Habenula Ameliorates Depression-like Symptoms in Rats: Involvement of Mesolimbic Circuit.

Neurochemical research
2026

Immature Caenorhabditis elegans motor neurons control early embryo behavior via both synaptic and nonsynaptic GABA release.

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

RO4938581, a GABAA-α5 negative allosteric modulator rescued behavioral and EEG phenotypes of a mouse model of Dup15q syndrome.

Molecular psychiatry
2026

Fatigue in major depression is linked to depression severity, not sleep duration or anterior cingulate cortex neurochemistry.

Journal of affective disorders
2026

Striatal cholinergic interneurons exhibit compartment-specific anatomical and functional organization in the mouse.

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

Modulation of Magnetic Resonance Spectroscopy Levels of Glutamate and GABA by Ketamine in Treatment-Resistant Depression.

Journal of neuroscience research
2025

Neuroprotective Effects of Mushroom Biomass Digestive Fractions and Gut Microbiota Metabolites in Microglial and Caenorhabditis elegans Models of Neurodegeneration.

Nutrients
2025

Infantile Spasms (West Syndrome): Integrating Genetic, Neurotrophic, and Hormonal Mechanisms Toward Precision Therapy.

Medicina (Kaunas, Lithuania)
2025

Hydrogen-Rich Water Potentiates Cannabinoid- and Gabapentinoid-Induced Analgesia in Neuropathic Pain.

International journal of molecular sciences
2025

Antidepressant Effects of Bifidobacterium animalis CP-9 in LPS-Induced Depressive Mice.

Foods (Basel, Switzerland)
2025

The Premature Infants' Gut Microbiota Assembly and Neurodevelopment (PIGMAN) Cohort Study: Protocol for a Prospective, Longitudinal Cohort Study.

Children (Basel, Switzerland)
2025

In vivo, in silico effects of sakuranetin as a multi-target nutraceutical against PTZ-induced seizures via GABA restoration and BDNF/TrkB activation.

Scientific reports
2025

High-fat diet disrupts a septal control on feeding to promote obesity in male mice.

Nature communications
2026

The Increased Activity of CaV3.2 Channels Contributes to Nociceptors' Hyperexcitability and Chronic Neuropathic Pain Following Spinal Cord Injury in Mice.

The Journal of neuroscience : the official journal of the Society for Neuroscience
2026

Ketamine's brain spatial distribution and metabolic effects in a mouse model of anxiety: Insight into in situ mass spectrometry imaging and metabolomics methods.

Neurotoxicology
2026

Prolonged exposure of cerebrocortical neurons to diazepam induces downregulation of surface α1-containing GABAA receptors and uncoupling of GABA/benzodiazepine site interactions through different mechanisms.

Neuroscience letters
2025

Reduced Ventral Tegmental Area GABA neuron output contributes to hyperactivity in the activity-based anorexia model in female mice.

Nature communications
2026

Astrocytic GABA controls fidelity of temporal cortical processing in Fragile X Syndrome.

Neurobiology of disease
2025

Characterizing Spatial Associations Between GluCEST MRI and Neurotransmitter Receptor Density in the Human Cortex.

Human brain mapping
2025

Emergence of multidrug-resistant Haemaphysalis longicornis populations in China.

Experimental & applied acarology
2026

Evaluation of GABAergic and Glutamatergic Levels in the Dorsal Anterior Cingulate Cortex of Patients With Bipolar Disorder: A Cross-Sectional 1H-MRS Study.

Neuropsychopharmacology reports
2025

Brain Network Controllability and Its Regional Gene Expression Profile Associated With Suicidal Tendencies in Major Depressive Disorder Patients.

Depression and anxiety
2025

A pilot study of the plasma and urinary neurotransmitters in Chinese children with autism spectrum disorder.

BMC psychiatry
2026

Chronic alcohol consumption sex-dependently affects IL-6 modulation of GABAergic synapses in the central amygdala of rhesus macaques.

Brain, behavior, and immunity
2025

Integrating machine learning and experiments to elucidate the potential molecular mechanisms of methylparaben-induced Alzheimer's disease: evidence from a Tau hyperphosphorylation cell model.

BMC neurology
2025

GABAergic synapses between auditory efferent neurons and type II spiral ganglion afferent neurons in the mouse cochlea.

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

A two-sample Mendelian randomization analysis of the impact of GABA receptor subtypes on human height.

Medicine
2025

Oligodendrocytes show enriched expression of amyloid precursor protein and GABA B receptor isoform 1a.

bioRxiv : the preprint server for biology
2026

Bifidobacterium animalis subsp. lactis Bbm-19 ameliorates insomnia by remodeling the gut microbiota and restoring γ-aminobutyric acid and serotonin signaling.

Food & function
2025

Optogenetic regulation of chloride ions in reactive astrocytes may mitigate Parkinson's disease pathology.

Scientific reports
2026

Aberrant thalamic GABA-network coupling as a neural signature of insomnia severity in major depressive disorder.

NeuroImage
2025

Mechanisms of Suanzaoren () and its processed products in treating insomnia: an integrated study based on network pharmacology and metabolomics.

Journal of traditional Chinese medicine = Chung i tsa chih ying wen pan
2025

Integrative Neuroimmune Role of the Parasympathetic Nervous System, Vagus Nerve and Gut Microbiota in Stress Modulation: A Narrative Review.

International journal of molecular sciences
2025

Dynamic changes in chloride homeostasis coordinate midbrain inhibitory network activity during reward learning.

Nature communications
2026

The astrocytic engine: Na+,K+-ATPase at the nexus of brain function and malfunction.

American journal of physiology. Cell physiology
2025

Effective Capture of Acrolein In Vivo Using the Combination of Ergothioneine and Aminobutyric Acid, or Mushrooms as a Carrier, in Both Mice and Human Models.

Journal of agricultural and food chemistry
2025

Ashwagandha as an Adaptogenic Herb: A Comprehensive Review of Immunological and Neurological Effects.

Cureus
2025

Investigations on the Prospects of Using Lactiplantibacillus plantarum to Combat Depression through Gut Microbiota-Brain Axis.

Molecular neurobiology
2025

A central CeA-LC-PVH circuit mediates stress-induced osteopenia via skeletal sympathetic nerves in male mice.

Science advances
2026

Microbial metabolites in the gut-brain axis: their impact on depression pathophysiology and treatment.

Neuroscience
2026

GABAB receptor blockade in the dentate gyrus restores glutamatergic synaptic plasticity and hippocampus dependent memory in an AD-like rat model.

Neuropharmacology
2025

Neurotropic Effects In Vivo of New Tryptamino-Triazines Compared to GABA Effectors.

ACS chemical neuroscience
2025

Postbiotic GABA and Lactobacillus plantarum 1-2-3 Alleviate Corticosterone-induced Abdominal Fat Deposition in Laying Hens by Suppressing Adipogenesis and Enhancing Lipolysis.

Probiotics and antimicrobial proteins
2026

In Vivo Glx Measurements From GABA-Edited HERMES at 3 T Are Not Consistent With Those From Short-TE PRESS Across Scanners, Brain Regions, Diagnostic and Age Groups.

NMR in biomedicine
2025

[Research progress of neurotransmitters in lung injury after traumatic brain injury].

Zhonghua wei zhong bing ji jiu yi xue
2026

Physostigmine modulates hippocampal GABAergic neurotransmission via α7 nicotinic acetylcholine receptors.

Neuropharmacology
2026

Cortical excitatory and inhibitory neuron deficits may underlie the cognitive and social impairments in a mouse model of schizophrenia with exonic Reln deletion.

European journal of pharmacology
2025

Presynaptic GABAA receptors control integration of nicotinic input onto dopaminergic axons in the striatum.

Cell reports
2025

Microbiome and metabolic disruption in acute vs. severe and enduring anorexia nervosa.

NPJ biofilms and microbiomes
2025

Cistanche deserticola-derived exosome-like nanovesicles target the Microbiota-GABA signaling axis to ameliorate loperamide-induced constipation.

Frontiers in pharmacology
2025

The circadian variation of amino acids and melatonin in human milk and their potential sleep-wake regulation.

Food & function
2026

Sex and Stress Govern the Function and Innervation of a Basolateral Amygdala to Nucleus Accumbens Corticotropin-Releasing Hormone/GABA-Expressing Projection.

The Journal of neuroscience : the official journal of the Society for Neuroscience
2025

Telocytes Mediating the Effects of GABA-Herbal Medicine Composite on Insomnia.

Microscopy and microanalysis : the official journal of Microscopy Society of America, Microbeam Analysis Society, Microscopical Society of Canada
2025

Abscisic Acid Regulates Immune-inflammatory Responses to Induce Neuroprotection in Spinal Cord Injury: Insights from Gene Expression and Network Analysis.

Iranian journal of allergy, asthma, and immunology
2026

Microglial VRK2 Regulates Astrocytic GABA Synthesis and Tonic Inhibition in the Thalamus.

Glia
2025

Improvement of chilling tolerance and postharvest quality in mango fruit by pre-storage dopamine application.

Plant physiology and biochemistry : PPB
2026

Investigating the disturbance in cortical glutamate and GABA function in psychosis and its origins and consequences.

Molecular psychiatry
2025

Heterozygous GAT1 (GABA transporter 1) G307R variant-carrying iPSC line (FINi007-A) from a male SLC6A1 epileptic encephalopathy patient.

Stem cell research
2025

The First 30 Days Postnatal of the GABA Receptor: A Comprehensive Overview.

Molecular neurobiology
2025

Gamma-aminobutyric acid-B receptor axis promotes proliferation and survival of multiple myeloma cells via enhancing ERK1/2 activity.

Journal of leukocyte biology
2026

The Relationship Between Neuromelanin, Glutamate, and GABA in First-Episode Psychosis: A Multimodal Magnetic Resonance Imaging Study.

Biological psychiatry. Cognitive neuroscience and neuroimaging
2025

Anti-gamma-aminobutyric acid B receptor antibody-associated limbic encephalitis in relapsing polychondritis: a rare case report and literature review.

Frontiers in immunology
2025

Central GABAergic control of cardiac function in different hypertrophy models.

Life sciences
2025

Contribution of Cerebellar Glutamatergic and GABAergic Systems in Premotor and Early Stages of Parkinson's Disease.

International journal of molecular sciences
2025

Unraveling the Effects of Melissa officinalis L. on Cognition and Sleep Quality: A Narrative Review.

International journal of molecular sciences
2025

Non-Invasive Regional Neurochemical Profiling of Zebrafish Brain Using Localized Magnetic Resonance Spectroscopy at 28.2 T.

Molecules (Basel, Switzerland)
2026

Rare genetic variants confer a high risk of ADHD and implicate neuronal biology.

Nature
2026

Disrupted glutamate-gaba balance in children with adenoid hypertrophy:a targeted metabolomic and clinical correlation study.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
2025

Modulatory Effects of Jujuboside A on Amino Acid Neurotransmitter Profiles in Tic Disorder.

Brain and behavior
2025

The interplay between metabolism and neuroinflammation in epilepsy: mechanisms and therapeutic perspectives.

Journal of neuroinflammation
2025

The Evolution of Benzodiazepine Allosteric Modulators: Structural Insights From Historical Milestones to Emerging Innovations in Drug Discovery and Development.

Medicinal research reviews
2026

Integrated analysis of trichlorfon-induced intestinal toxicity in Micropterus salmoides: Barrier Impairment, microbiome disruption, and metabolic reprogramming.

Fish & shellfish immunology
2026

Revealing the mechanism of suanzaoren tang against insomnia via integrated metabolomics and gut microbiota analysis.

Journal of pharmaceutical and biomedical analysis
2025

The modulatory role of GABA in the triple network and its impact on anhedonia and cognitive function in depression.

NeuroImage
2026

Impairment of the GABAergic system in the prefrontal cortex of male heroin addicts.

European archives of psychiatry and clinical neuroscience
2026

Golexanolone affords sustained improvement of Parkinson's symptoms in rats by reducing microglia activation that restores the glutamate-GABA-dopamine pathway.

Neuropharmacology
2025

Membrane-associated estrogen receptor α prevents the amyloid β-induced suppression of GIRK channel activity in hippocampal neurons from female mice.

Biology of sex differences
2025

Dopamine and serotonin cotransmission filters striatonigral synaptic activity via 5-HT1B receptor activation.

Science advances
2025

Long-term potentiation and neurotransmitters expression and segregation are altered in the Metabolic Syndrome-associated dysautonomia.

PloS one
2025

Transcriptional profiling of the hippocampus and hypothalamus reveals a potential role of thyroid hormone in gamma-aminobutyric acid (GABA) synthesis in dairy cows fed a high-concentrate diet.

BMC veterinary research
2026

Restoring failed inhibition in the substantia nigra pars reticulata suppresses absence seizures in rats.

Epilepsia
2025

Improving Proteostasis of Trafficking-Deficient GABAA Receptor Variants by Activating IRE1.

ACS chemical neuroscience
2025

A novel fungal alkaloid protects retinal ganglion cells against glutamate-induced excitotoxicity in vitro and in vivo via activation of GABA pathway.

Bioorganic chemistry
2025

Upregulation of CCK3R leading to the suppression of chronic seizures.

Translational psychiatry
2025

Altered Inhibitory Synaptic Transmission and Changes in GABAergic Markers in the Hippocampus of Genetic and Environmental Animal Model of Autism.

Neurochemical research
2025

Valproic Acid Treatment Reverses Anxiety and Neurotransmitter Changes in Tramadol-Treated Rats.

Neurochemical research
2025

Premenstrual dysphoric disorder as a potential predisposing factor for Alzheimer's disease: a review.

Frontiers in endocrinology
2025

epDevAtlas: mapping GABAergic cells and microglia in the early postnatal mouse brain.

Nature communications
2025

Effects of Eisenia bicyclis Extract on Sleep Promotion in a Caffeine-Induced Insomnia Models.

Journal of microbiology and biotechnology
2026

Prenatal alcohol exposure impairs offspring cognition through oxidative stress disrupting CREB/BDNF/TrkB signaling and GABAergic neuron deficits.

Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association
2025

Gamma-Aminobutyric Acid (GABA) as a Dietary Strategy for Enhancing Temperature Stress Resilience in Aquaculture Species.

International journal of molecular sciences
2025

Estrogenic Effect of Probiotics on Anxiety and Depression: A Narrative Review.

International journal of molecular sciences
2025

Is Vitamin B6 a Precision Therapy for Neonatal Seizures?

Neurology international
2026

Autoimmune encephalitis and hepatitis after SARS-CoV-2: a case of multiple autoantibodies.

Laboratory medicine
2025

Physical entrapment of glutamic acid decarboxylase from Lactobacillus casei IIB-09 in multifunctional mesoporous silica nanoparticles for controlled release of ɣ-aminobutyric acid in anxiety disorders.

International microbiology : the official journal of the Spanish Society for Microbiology
2025

Potential targets and mechanisms of Yangyin Quyu decoction against pulmonary tuberculosis: A network pharmacology and molecular docking study.

Medicine
2025

Unravelling the role of cerebellar α6GABAA receptors in anti-tremor pharmacotherapies.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
2026

Calponin-3 is associated with epilepsy through the regulation of astrocyte activity.

Brain pathology (Zurich, Switzerland)
2025

The role of dopamine, acetylcholine, GABA, beta endorphin, and agmatine in the pathophysiology of delirium in children.

Journal of pediatric nursing
2025

Histological and electrophysiological effects of sulbactam and valproate in the PTZ-induced epileptic rat model.

Epilepsy research
2025

Behavioural, immunological and transcriptomic consequences of post-weaning social isolation and chronic celecoxib administration in mouse.

PloS one
2025

Pyrimidine Derivative, (E)-N-[4-(4-Chlorophenyl)-6-(4-Methylphenyl)Pyrimidin-2-yl]-1-(Furan-2-yl)Methanimine, Named BN5 Ameliorates Cognitive Dysfunction and Regulates esr1 and esr2b Expression in Female In Vivo Zebrafish Alzheimer Model.

Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune Pharmacology
2025

Zhinao Capsule Improved Sleep and Memory Disorders in APP/PS1 Mice via cAMP/PKA/CREB Signaling Pathway Modulation.

Drug design, development and therapy
2025

Altered synaptic functions in a humanized mouse model of down syndrome (TcMAC21): Implications for seizure susceptibility.

Epilepsy research
2025

Neurometabolic profiles of autism spectrum disorder patients with genetic variants in specific neurotransmission and synaptic genes.

Scientific reports
2025

Rapid Multianalyte Quantification of Brain Chemistry Using Si-Nanoribbon Bio-Field-Effect Transistor Sensors.

ACS applied materials & interfaces
2025

Lysosomal proteomics reveals mechanisms of neuronal APOE4-associated lysosomal dysfunction.

Autophagy
2025

Differential synaptic depression mediates the therapeutic effect of deep brain stimulation.

Nature neuroscience
2025

Polygonatum sibiricum Polysaccharides Alleviate Simulated Weightlessness-Induced Cognitive Impairment by Gut Microbiota Modulation and Suppression of NLRP3/NF-κB Pathways.

Nutrients
2025

The Role of GABA Pathway Components in Pathogenesis of Neurodevelopmental Disorders.

International journal of molecular sciences
2025

Potential TMS biomarkers for GABAB receptor engagement in alcohol use disorder: A systematic review of existing evidence.

Alcohol, clinical & experimental research
2025

Sedative-hypnotic effects of an herbal formulation comprising Ganoderma, Gastrodiae Rhizoma, and Chrysanthemi Flos in mice.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2025

Anesthetic Management of a Pediatric Patient With Succinic Semialdehyde Dehydrogenase Deficiency Undergoing Dental Procedures.

Case reports in anesthesiology
2026

Selective magnetic stimulation downregulates the GABAA receptor ε subunit in the left prelimbic cortex to alleviate schizophrenia-like behaviors in mice.

Molecular psychiatry
2025

Neurobiochemical alterations in patients with idiopathic Parkinson's disease in sensorimotor cortex using 1H-MRS.

Neuroscience
2025

5-Hydroxytryptamine 7 receptor agonist LP-211 in combination with gabapentin ameliorates neuropathic pain comorbidities associated with mechanical allodynia in diabetic and nerve-ligated rats.

Behavioural pharmacology
2025

[Mechanism of Xiangshao Granules in alleviating anxiety and depression in mice based on integrated metabolomics and gut microbiota].

Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica
2025

Agmatine attenuates ethanol withdrawal induced audiogenic seizures in rats.

Neuroscience
2025

Effects of JNJ-46356479 and clozapine on VGLUT1 and GAD65/67 brain levels and expression of genes related to glutamate and GABA in mice postnatally exposed to ketamine.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
2026

Projections from prefrontal cortex to dorsal hippocampus mediate lipopolysaccharide induced recognition memory deficits in mice.

Neuropharmacology
2025

The neurochemistry of decreased sound tolerance: A magnetic resonance spectroscopy (MRS) study of misophonia and hyperacusis.

Hearing research
2025

Deleterious Effects of a GAD65 Monoclonal Autoantibody on Islet Function.

Diabetes
2025

Activation of GABA transmission by clonazepam reverses the autistic-like phenotypes of the Cav3.2 knockout mice.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

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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. Effects of GABAAR modulators CL218872 and MRK-016 on neural repair and synaptic plasticity in mice with Intracerebral hemorrhage.
    PloS one· 2026· PMID 41871059mais citado
  2. Amyloid-β as a target to suppress tonic PTH hypersecretion in hyperparathyroidism due to vitamin D deficiency.
    Science translational medicine· 2026· PMID 41849578mais citado
  3. Vagal GABAergic signaling in autonomic control of cardiometabolic function.
    American journal of physiology. Cell physiology· 2026· PMID 41811137mais citado
  4. Epigenetically regulated pancreatic GABA-somatostatin signaling underlies gestational diabetes-induced glucose intolerance in offspring.
    Science translational medicine· 2026· PMID 41779871mais citado
  5. The bridging role of gut microbiota-derived metabolites in neuropathic pain comorbid with anxiety.
    Frontiers in neuroscience· 2026· PMID 41769007mais citado
  6. Neuroprotective effects of pregabalin in experimental spinal cord injury: An investigation of oxidative stress and antioxidant enzymes in blood and neural tissue.
    Ulus Travma Acil Cerrahi Derg· 2026· PMID 41821277recente
  7. Transcriptomic analysis and machine learning have identified shared diagnostic genes and a possible mechanism linking bipolar disorder and epilepsy.
    Medicine (Baltimore)· 2026· PMID 41790636recente
  8. Eukaryotic initiation factor 4E: a key factor of traumatic stress-induced depression-related cognitive decline at different age.
    Transl Psychiatry· 2026· PMID 41680149recente
  9. Neuroprotection via IGF-1 neuronal signaling activation by melatonin and edaravone synergy in methylmercury-induced ALS-like neurotoxicity: Comprehensive analysis of brain regions, spinal cord, CSF, and blood plasma.
    Neurotoxicology· 2026· PMID 41651385recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:79175(Orphanet)
  2. MONDO:0000698(MONDO)
  3. GARD:18955(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q55788546(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 do GABA
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Doença do metabolismo do GABA

ORPHA:79175 · MONDO:0000698
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