Um distúrbio metabólico de aminoácidos caracterizado por uma dificuldade na via de quebra do GABA.
Introdução
O que você precisa saber de cara
Um distúrbio metabólico de aminoácidos caracterizado por uma dificuldade na via de quebra do GABA.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 25 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 63 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição.
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)
Mitochondrion matrix
GABA-transaminase deficiency
An enzymatic deficiency resulting in psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. GABATD inheritance is autosomal recessive.
Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA)
Mitochondrion
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.
Variantes genéticas (ClinVar)
334 variantes patogênicas registradas no ClinVar.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Doença do metabolismo 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
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
NUPAD / Faculdade de Medicina UFMG
Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital de Clínicas da Universidade Federal de Pernambuco
Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital Universitário Onofre Lopes (HUOL)
Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570
Atenção Especializada
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
Instituto da Criança e do Adolescente (ICr-HCFMUSP)
Av. Dr. Enéas Carvalho de Aguiar, 647 - Cerqueira César, São Paulo - SP, 05403-000 · CNES 2081695
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
Effects of GABAAR modulators CL218872 and MRK-016 on neural repair and synaptic plasticity in mice with Intracerebral hemorrhage.
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.
Amyloid-β as a target to suppress tonic PTH hypersecretion in hyperparathyroidism due to vitamin D deficiency.
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.
Vagal GABAergic signaling in autonomic control of cardiometabolic function.
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.
Epigenetically regulated pancreatic GABA-somatostatin signaling underlies gestational diabetes-induced glucose intolerance in offspring.
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.
The bridging role of gut microbiota-derived metabolites in neuropathic pain comorbid with anxiety.
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
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Transcriptomic analysis and machine learning have identified shared diagnostic genes and a possible mechanism linking bipolar disorder and epilepsy.
Epigenetically regulated pancreatic GABA-somatostatin signaling underlies gestational diabetes-induced glucose intolerance in offspring.
Eukaryotic initiation factor 4E: a key factor of traumatic stress-induced depression-related cognitive decline at different age.
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.
📚 EuropePMCmostrando 200
Effects of GABAAR modulators CL218872 and MRK-016 on neural repair and synaptic plasticity in mice with Intracerebral hemorrhage.
PloS onePregnanolone-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.
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Frontiers in psychiatryNeuroprotective effects of pregabalin in experimental spinal cord injury: An investigation of oxidative stress and antioxidant enzymes in blood and neural tissue.
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International journal of molecular sciencesAntidepressant Effects of Bifidobacterium animalis CP-9 in LPS-Induced Depressive Mice.
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Nature communicationsThe Increased Activity of CaV3.2 Channels Contributes to Nociceptors' Hyperexcitability and Chronic Neuropathic Pain Following Spinal Cord Injury in Mice.
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NeurotoxicologyProlonged exposure of cerebrocortical neurons to diazepam induces downregulation of surface α1-containing GABAA receptors and uncoupling of GABA/benzodiazepine site interactions through different mechanisms.
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Human brain mappingEmergence of multidrug-resistant Haemaphysalis longicornis populations in China.
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Depression and anxietyA pilot study of the plasma and urinary neurotransmitters in Chinese children with autism spectrum disorder.
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Brain, behavior, and immunityIntegrating machine learning and experiments to elucidate the potential molecular mechanisms of methylparaben-induced Alzheimer's disease: evidence from a Tau hyperphosphorylation cell model.
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Proceedings of the National Academy of Sciences of the United States of AmericaA two-sample Mendelian randomization analysis of the impact of GABA receptor subtypes on human height.
MedicineOligodendrocytes show enriched expression of amyloid precursor protein and GABA B receptor isoform 1a.
bioRxiv : the preprint server for biologyBifidobacterium animalis subsp. lactis Bbm-19 ameliorates insomnia by remodeling the gut microbiota and restoring γ-aminobutyric acid and serotonin signaling.
Food & functionOptogenetic regulation of chloride ions in reactive astrocytes may mitigate Parkinson's disease pathology.
Scientific reportsAberrant thalamic GABA-network coupling as a neural signature of insomnia severity in major depressive disorder.
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International journal of molecular sciencesDynamic changes in chloride homeostasis coordinate midbrain inhibitory network activity during reward learning.
Nature communicationsThe astrocytic engine: Na+,K+-ATPase at the nexus of brain function and malfunction.
American journal of physiology. Cell physiologyEffective 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 chemistryAshwagandha as an Adaptogenic Herb: A Comprehensive Review of Immunological and Neurological Effects.
CureusInvestigations on the Prospects of Using Lactiplantibacillus plantarum to Combat Depression through Gut Microbiota-Brain Axis.
Molecular neurobiologyA central CeA-LC-PVH circuit mediates stress-induced osteopenia via skeletal sympathetic nerves in male mice.
Science advancesMicrobial metabolites in the gut-brain axis: their impact on depression pathophysiology and treatment.
NeuroscienceGABAB receptor blockade in the dentate gyrus restores glutamatergic synaptic plasticity and hippocampus dependent memory in an AD-like rat model.
NeuropharmacologyNeurotropic Effects In Vivo of New Tryptamino-Triazines Compared to GABA Effectors.
ACS chemical neurosciencePostbiotic 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 proteinsIn 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[Research progress of neurotransmitters in lung injury after traumatic brain injury].
Zhonghua wei zhong bing ji jiu yi xuePhysostigmine modulates hippocampal GABAergic neurotransmission via α7 nicotinic acetylcholine receptors.
NeuropharmacologyCortical 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 pharmacologyPresynaptic GABAA receptors control integration of nicotinic input onto dopaminergic axons in the striatum.
Cell reportsMicrobiome and metabolic disruption in acute vs. severe and enduring anorexia nervosa.
NPJ biofilms and microbiomesCistanche deserticola-derived exosome-like nanovesicles target the Microbiota-GABA signaling axis to ameliorate loperamide-induced constipation.
Frontiers in pharmacologyThe circadian variation of amino acids and melatonin in human milk and their potential sleep-wake regulation.
Food & functionSex 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 NeuroscienceTelocytes 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 CanadaAbscisic 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 immunologyMicroglial VRK2 Regulates Astrocytic GABA Synthesis and Tonic Inhibition in the Thalamus.
GliaImprovement of chilling tolerance and postharvest quality in mango fruit by pre-storage dopamine application.
Plant physiology and biochemistry : PPBInvestigating the disturbance in cortical glutamate and GABA function in psychosis and its origins and consequences.
Molecular psychiatryHeterozygous GAT1 (GABA transporter 1) G307R variant-carrying iPSC line (FINi007-A) from a male SLC6A1 epileptic encephalopathy patient.
Stem cell researchThe First 30 Days Postnatal of the GABA Receptor: A Comprehensive Overview.
Molecular neurobiologyGamma-aminobutyric acid-B receptor axis promotes proliferation and survival of multiple myeloma cells via enhancing ERK1/2 activity.
Journal of leukocyte biologyThe Relationship Between Neuromelanin, Glutamate, and GABA in First-Episode Psychosis: A Multimodal Magnetic Resonance Imaging Study.
Biological psychiatry. Cognitive neuroscience and neuroimagingAnti-gamma-aminobutyric acid B receptor antibody-associated limbic encephalitis in relapsing polychondritis: a rare case report and literature review.
Frontiers in immunologyCentral GABAergic control of cardiac function in different hypertrophy models.
Life sciencesContribution of Cerebellar Glutamatergic and GABAergic Systems in Premotor and Early Stages of Parkinson's Disease.
International journal of molecular sciencesUnraveling the Effects of Melissa officinalis L. on Cognition and Sleep Quality: A Narrative Review.
International journal of molecular sciencesNon-Invasive Regional Neurochemical Profiling of Zebrafish Brain Using Localized Magnetic Resonance Spectroscopy at 28.2 T.
Molecules (Basel, Switzerland)Rare genetic variants confer a high risk of ADHD and implicate neuronal biology.
NatureDisrupted 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 SurgeryModulatory Effects of Jujuboside A on Amino Acid Neurotransmitter Profiles in Tic Disorder.
Brain and behaviorThe interplay between metabolism and neuroinflammation in epilepsy: mechanisms and therapeutic perspectives.
Journal of neuroinflammationThe Evolution of Benzodiazepine Allosteric Modulators: Structural Insights From Historical Milestones to Emerging Innovations in Drug Discovery and Development.
Medicinal research reviewsIntegrated analysis of trichlorfon-induced intestinal toxicity in Micropterus salmoides: Barrier Impairment, microbiome disruption, and metabolic reprogramming.
Fish & shellfish immunologyRevealing the mechanism of suanzaoren tang against insomnia via integrated metabolomics and gut microbiota analysis.
Journal of pharmaceutical and biomedical analysisThe modulatory role of GABA in the triple network and its impact on anhedonia and cognitive function in depression.
NeuroImageImpairment of the GABAergic system in the prefrontal cortex of male heroin addicts.
European archives of psychiatry and clinical neuroscienceGolexanolone affords sustained improvement of Parkinson's symptoms in rats by reducing microglia activation that restores the glutamate-GABA-dopamine pathway.
NeuropharmacologyMembrane-associated estrogen receptor α prevents the amyloid β-induced suppression of GIRK channel activity in hippocampal neurons from female mice.
Biology of sex differencesDopamine and serotonin cotransmission filters striatonigral synaptic activity via 5-HT1B receptor activation.
Science advancesLong-term potentiation and neurotransmitters expression and segregation are altered in the Metabolic Syndrome-associated dysautonomia.
PloS oneTranscriptional 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 researchRestoring failed inhibition in the substantia nigra pars reticulata suppresses absence seizures in rats.
EpilepsiaImproving Proteostasis of Trafficking-Deficient GABAA Receptor Variants by Activating IRE1.
ACS chemical neuroscienceA novel fungal alkaloid protects retinal ganglion cells against glutamate-induced excitotoxicity in vitro and in vivo via activation of GABA pathway.
Bioorganic chemistryUpregulation of CCK3R leading to the suppression of chronic seizures.
Translational psychiatryAltered Inhibitory Synaptic Transmission and Changes in GABAergic Markers in the Hippocampus of Genetic and Environmental Animal Model of Autism.
Neurochemical researchValproic Acid Treatment Reverses Anxiety and Neurotransmitter Changes in Tramadol-Treated Rats.
Neurochemical researchPremenstrual dysphoric disorder as a potential predisposing factor for Alzheimer's disease: a review.
Frontiers in endocrinologyepDevAtlas: mapping GABAergic cells and microglia in the early postnatal mouse brain.
Nature communicationsEffects of Eisenia bicyclis Extract on Sleep Promotion in a Caffeine-Induced Insomnia Models.
Journal of microbiology and biotechnologyPrenatal 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 AssociationGamma-Aminobutyric Acid (GABA) as a Dietary Strategy for Enhancing Temperature Stress Resilience in Aquaculture Species.
International journal of molecular sciencesEstrogenic Effect of Probiotics on Anxiety and Depression: A Narrative Review.
International journal of molecular sciencesIs Vitamin B6 a Precision Therapy for Neonatal Seizures?
Neurology internationalAutoimmune encephalitis and hepatitis after SARS-CoV-2: a case of multiple autoantibodies.
Laboratory medicinePhysical 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 MicrobiologyPotential targets and mechanisms of Yangyin Quyu decoction against pulmonary tuberculosis: A network pharmacology and molecular docking study.
MedicineUnravelling the role of cerebellar α6GABAA receptors in anti-tremor pharmacotherapies.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieCalponin-3 is associated with epilepsy through the regulation of astrocyte activity.
Brain pathology (Zurich, Switzerland)The role of dopamine, acetylcholine, GABA, beta endorphin, and agmatine in the pathophysiology of delirium in children.
Journal of pediatric nursingHistological and electrophysiological effects of sulbactam and valproate in the PTZ-induced epileptic rat model.
Epilepsy researchBehavioural, immunological and transcriptomic consequences of post-weaning social isolation and chronic celecoxib administration in mouse.
PloS onePyrimidine 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 PharmacologyZhinao Capsule Improved Sleep and Memory Disorders in APP/PS1 Mice via cAMP/PKA/CREB Signaling Pathway Modulation.
Drug design, development and therapyAltered synaptic functions in a humanized mouse model of down syndrome (TcMAC21): Implications for seizure susceptibility.
Epilepsy researchNeurometabolic profiles of autism spectrum disorder patients with genetic variants in specific neurotransmission and synaptic genes.
Scientific reportsRapid Multianalyte Quantification of Brain Chemistry Using Si-Nanoribbon Bio-Field-Effect Transistor Sensors.
ACS applied materials & interfacesLysosomal proteomics reveals mechanisms of neuronal APOE4-associated lysosomal dysfunction.
AutophagyDifferential synaptic depression mediates the therapeutic effect of deep brain stimulation.
Nature neurosciencePolygonatum sibiricum Polysaccharides Alleviate Simulated Weightlessness-Induced Cognitive Impairment by Gut Microbiota Modulation and Suppression of NLRP3/NF-κB Pathways.
NutrientsThe Role of GABA Pathway Components in Pathogenesis of Neurodevelopmental Disorders.
International journal of molecular sciencesPotential TMS biomarkers for GABAB receptor engagement in alcohol use disorder: A systematic review of existing evidence.
Alcohol, clinical & experimental researchSedative-hypnotic effects of an herbal formulation comprising Ganoderma, Gastrodiae Rhizoma, and Chrysanthemi Flos in mice.
Phytomedicine : international journal of phytotherapy and phytopharmacologyAnesthetic Management of a Pediatric Patient With Succinic Semialdehyde Dehydrogenase Deficiency Undergoing Dental Procedures.
Case reports in anesthesiologySelective magnetic stimulation downregulates the GABAA receptor ε subunit in the left prelimbic cortex to alleviate schizophrenia-like behaviors in mice.
Molecular psychiatryNeurobiochemical alterations in patients with idiopathic Parkinson's disease in sensorimotor cortex using 1H-MRS.
Neuroscience5-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[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 medicaAgmatine attenuates ethanol withdrawal induced audiogenic seizures in rats.
NeuroscienceEffects 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 & pharmacotherapieProjections from prefrontal cortex to dorsal hippocampus mediate lipopolysaccharide induced recognition memory deficits in mice.
NeuropharmacologyThe neurochemistry of decreased sound tolerance: A magnetic resonance spectroscopy (MRS) study of misophonia and hyperacusis.
Hearing researchDeleterious Effects of a GAD65 Monoclonal Autoantibody on Islet Function.
DiabetesActivation 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 NeuroTherapeuticsAssociações
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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.
- Effects of GABAAR modulators CL218872 and MRK-016 on neural repair and synaptic plasticity in mice with Intracerebral hemorrhage.
- Amyloid-β as a target to suppress tonic PTH hypersecretion in hyperparathyroidism due to vitamin D deficiency.
- Vagal GABAergic signaling in autonomic control of cardiometabolic function.
- Epigenetically regulated pancreatic GABA-somatostatin signaling underlies gestational diabetes-induced glucose intolerance in offspring.
- The bridging role of gut microbiota-derived metabolites in neuropathic pain comorbid with anxiety.
- Neuroprotective effects of pregabalin in experimental spinal cord injury: An investigation of oxidative stress and antioxidant enzymes in blood and neural tissue.
- Transcriptomic analysis and machine learning have identified shared diagnostic genes and a possible mechanism linking bipolar disorder and epilepsy.
- Eukaryotic initiation factor 4E: a key factor of traumatic stress-induced depression-related cognitive decline at different age.
- 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.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:79175(Orphanet)
- MONDO:0000698(MONDO)
- GARD:18955(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- 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
