Adderall e Mydayis são nomes comerciais de uma associação medicamentosa composta por quatro sais de anfetamina. Essa associação é formada por partes iguais de anfetamina e dextroanfetamina em suas formas racêmicas. O medicamento final é composto por 75% de dextroanfetamina e por 25% de levanfetamina, que são dois enantiômeros da anfetamina. Esses enantiômeros agem como estimulantes, mas possuem um mecanismo de ação único, o que confere ao Adderall um perfil farmacológico distinto de outros medicamentos estimulantes, como os que são compostos apenas por anfetamina ou por dextroanfetamina em suas misturas racêmicas, que são comercializados, respectivamente, sob os nomes comerciais de Evekeo e Dexedrina/Zenzedi.
Introdução
O que você precisa saber de cara
Anomalia metabólica da neurotransmissão, caracterizada por rigidez, choro inapropriado e anormalidades de coordenação. Pode apresentar estrido, discinesia orofacial, comprometimento cognitivo e achados eletroencefalográficos epileptiformes.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 130 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 274 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
16 genes identificados com associação a esta condição.
Catalyzes the conversion of L-tyrosine to L-dihydroxyphenylalanine (L-Dopa), the rate-limiting step in the biosynthesis of catecholamines, dopamine, noradrenaline, and adrenaline. Uses tetrahydrobiopterin and molecular oxygen to convert tyrosine to L-Dopa (PubMed:15287903, PubMed:1680128, PubMed:17391063, PubMed:24753243, PubMed:34922205, PubMed:8528210, Ref.18). In addition to tyrosine, is able to catalyze the hydroxylation of phenylalanine and tryptophan with lower specificity (By similarity).
Cytoplasm, perinuclear regionNucleusCell projection, axonCytoplasmCytoplasmic vesicle, secretory vesicle, synaptic vesicle
Segawa syndrome autosomal recessive
A form of DOPA-responsive dystonia presenting in infancy or early childhood. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Some cases present with parkinsonian symptoms in infancy. Unlike all other forms of dystonia, it is an eminently treatable condition, due to a favorable response to L-DOPA.
Required for synaptic transmission regulation (PubMed:33539324). It probably controls the recruitment of voltage-gated calcium channels to the presynaptic membrane, and modulates neurotransmitter release
CytoplasmMitochondrion
Dystonia 22, adult-onset
A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT22AO is an autosomal recessive form characterized by focal dystonia or tremor and mild cognitive impairment.
Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules (By similarity). Acts as a major instructive molecule at inhibitory synapses, where it also clusters GABA type A receptors (PubMed:25025157, PubMed:26613940) Also has a catalytic activity and catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently,
Postsynaptic cell membraneCell membraneCytoplasm, cytosolCytoplasm, cytoskeletonCell projection, dendritePostsynaptic density
Molybdenum cofactor deficiency C
A form of molybdenum cofactor deficiency, an autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients.
Catalyzes the hydroxylation of dopamine to noradrenaline (also known as norepinephrine), and is thus vital for regulation of these neurotransmitters
Cytoplasmic vesicle, secretory vesicle lumenCytoplasmic vesicle, secretory vesicle, chromaffin granule lumenSecretedCytoplasmic vesicle, secretory vesicle membraneCytoplasmic vesicle, secretory vesicle, chromaffin granule membrane
Orthostatic hypotension 1
A form of orthostatic hypotension due to congenital dopamine beta-hydroxylase deficiency. Orthostatic hypotension, also known as postural hypotension, is a finding defined as a 20-mm Hg decrease in systolic pressure or a 10-mm Hg decrease in diastolic pressure occurring 3 minutes after a person has risen from supine to standing. Symptoms include dizziness, blurred vision, and sometimes syncope. ORTHYP1 is an autosomal recessive condition apparent from infancy or early childhood and characterized by low plasma and urinary levels of norepinephrine and epinephrine, and episodic hypoglycemia.
Catalyzes the oxidative deamination of primary and some secondary amine such as neurotransmitters, with concomitant reduction of oxygen to hydrogen peroxide and has important functions in the metabolism of neuroactive and vasoactive amines in the central nervous system and peripheral tissues (PubMed:18391214, PubMed:20493079, PubMed:24169519, PubMed:8316221). Preferentially oxidizes serotonin (PubMed:20493079, PubMed:24169519). Also catalyzes the oxidative deamination of kynuramine to 3-(2-amino
Mitochondrion outer membrane
Brunner syndrome
A form of X-linked non-dysmorphic mild intellectual disability. Male patients are affected by borderline intellectual deficit and exhibit abnormal behavior, including disturbed regulation of impulsive aggression. Obligate female carriers have normal intelligence and behavior.
Catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine and L-5-hydroxytryptophan to serotonin
Aromatic L-amino-acid decarboxylase deficiency
An inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. It causes developmental and psychomotor delay, poor feeding, lethargy, ptosis, intermittent hypothermia, gastrointestinal disturbances. The onset is early in infancy and inheritance is autosomal recessive.
Subunit of heteromeric glycine-gated chloride channels (PubMed:14551753, PubMed:23994010, PubMed:25730860, PubMed:37821459). Plays an important role in the down-regulation of neuronal excitability (PubMed:8298642, PubMed:9009272). Contributes to the generation of inhibitory postsynaptic currents (PubMed:25445488). Channel activity is potentiated by ethanol (PubMed:25973519). Potentiation of channel activity by intoxicating levels of ethanol contribute to the sedative effects of ethanol (By simil
Postsynaptic cell membraneSynapsePerikaryonCell projection, dendriteCell membrane
Hyperekplexia 1
A neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli.
Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters
Secreted
Butyrylcholinesterase deficiency
An autosomal recessive metabolic condition characterized by increased sensitivity to certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium. BCHED results in slower hydrolysis of these drugs and, consequently, a prolonged neuromuscular block, leading to apnea. The duration of the prolonged apnea varies significantly depending on the extent of the enzyme deficiency.
Pyridoxal 5'-phosphate (PLP)-binding protein, which may be involved in intracellular homeostatic regulation of pyridoxal 5'-phosphate (PLP), the active form of vitamin B6
Epilepsy, early-onset, 1, vitamin B6-dependent
An autosomal recessive neurologic disorder characterized by seizures responsive to treatment with activated vitamin B6 and/or pyridoxine. Most patients show delayed psychomotor development, intellectual disability and learning disability. Seizures onset is in the first days or months of life.
Outer mitochondrial translocase required to remove mislocalized tail-anchored transmembrane proteins on mitochondria (PubMed:24843043). Specifically recognizes and binds tail-anchored transmembrane proteins: acts as a dislocase that mediates the ATP-dependent extraction of mistargeted tail-anchored transmembrane proteins from the mitochondrion outer membrane (By similarity). Also plays a critical role in regulating the surface expression of AMPA receptors (AMPAR), thereby regulating synaptic pla
Mitochondrion outer membranePeroxisome membranePostsynaptic cell membrane
Hyperekplexia 4
An autosomal recessive severe neurologic disorder apparent from birth. HKPX4 is characterized by little if any development, hypertonia, early-onset refractory seizures in some patients, and respiratory failure resulting in early death, mostly in the first months of life.
Sodium- and chloride-dependent glycine transporter (PubMed:10381548, PubMed:10606742, PubMed:16751771, PubMed:31370103, PubMed:9845349). Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic terminals (PubMed:9845349). May be responsible for the termination of neurotransmission at strychnine-sensitive glycinergic synapses (PubMed:9845349) Lacks sodium- and chloride-dependent glycine transporter activity Lacks sodium- and chloride-dependent glycine trans
Cell membrane
Hyperekplexia 3
A neurologic disorder characterized by neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life-threatening neonatal apnea episodes. Notably, in some cases, symptoms resolved in the first year of life.
Acts as a guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters (By similarity)
CytoplasmPostsynaptic density
Developmental and epileptic encephalopathy 8
A disorder characterized by hyperekplexia and early infantile epileptic encephalopathy. Neurologic features include exaggerated startle response, seizures, impaired psychomotor development, and intellectual disability. Seizures can be provoked by tactile stimulation or extreme emotion.
Aldehyde dehydrogenase enzyme that mediates important protective effects (PubMed:16491085, PubMed:20207735, PubMed:20554659, PubMed:21338592, PubMed:25554827, PubMed:31302938, PubMed:31652343, PubMed:38604394, PubMed:40233740). Protects cells from oxidative stress by metabolizing a number of lipid peroxidation-derived aldehydes (PubMed:16491085, PubMed:20207735, PubMed:21338592, PubMed:40233740). Involved in cellular defense against hyperosmotic stress by metabolizing betaine aldehyde to betaine
MitochondrionCytoplasm, cytosolCell membraneGolgi apparatus membraneNucleus
Epilepsy, early-onset, 4, vitamin B6-dependent
An autosomal recessive neurologic disorder ocharacterized by a combination of various seizure types. It usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride.
Subunit of heteromeric glycine-gated chloride channels (PubMed:11929858, PubMed:15302677, PubMed:16144831, PubMed:22715885, PubMed:23238346, PubMed:25445488, PubMed:34473954, PubMed:8717357). Plays an important role in the down-regulation of neuronal excitability (PubMed:11929858, PubMed:23238346). Contributes to the generation of inhibitory postsynaptic currents (PubMed:25445488)
Postsynaptic cell membraneSynapseCell projection, dendriteCell membraneCytoplasm
Hyperekplexia 2
A neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli.
Catalyzes the oxidation of either pyridoxine 5'-phosphate (PNP) or pyridoxamine 5'-phosphate (PMP) into pyridoxal 5'-phosphate (PLP)
Pyridoxine-5'-phosphate oxidase deficiency
The main feature of neonatal epileptic encephalopathy is the onset within hours of birth of a severe seizure disorder that does not respond to anticonvulsant drugs and can be fatal. Seizures can cease with the administration of PLP, being resistant to treatment with pyridoxine,.
Electrogenic antiporter that exchanges one cationic monoamine with two intravesicular protons across the membrane of secretory and synaptic vesicles. Uses the electrochemical proton gradient established by the V-type proton-pump ATPase to accumulate high concentrations of monoamines inside the vesicles prior to their release via exocytosis. Transports a variety of catecholamines such as dopamine, adrenaline and noradrenaline, histamine, and indolamines such as serotonin (PubMed:23363473, PubMed:
Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membraneCytoplasmic vesicle, secretory vesicle membraneCell projection, axonCell projection, dendrite
Parkinsonism-dystonia 2, infantile-onset
An autosomal recessive disorder characterized by infantile onset of abnormal movements, including parkinsonism, dystonia, and poor fine motor skills, as well as autonomic dysfunction, including abnormal sweating, cold extremities, and poor sleep. Some patients have variable degrees of developmental delay.
Medicamentos e terapias
Mecanismo: DDC exogenous gene
Mecanismo: Acetylcholinesterase inhibitor
Mecanismo: Adrenergic receptor alpha-1 agonist
Mecanismo: Adrenergic receptor alpha-2 agonist
Mecanismo: Soluble guanylate cyclase activator
Mecanismo: Beta-1 adrenergic receptor antagonist
Mecanismo: Adrenergic receptor beta agonist
Mecanismo: Muscarinic acetylcholine receptor M1 antagonist
Mecanismo: Serotonin 3a (5-HT3a) receptor antagonist
Mecanismo: Toll-like receptor 7 agonist
Variantes genéticas (ClinVar)
1,552 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
32 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Metabólica da neurotransmissão, anomalia
Centros de Referência SUS
45 centros habilitados pelo SUS para Metabólica da neurotransmissão, anomalia
Centros para Metabólica da neurotransmissão, anomalia
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 Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
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 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 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 UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
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 Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
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
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
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
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
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 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 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 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 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 Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
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
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
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.
Tyrosine hydroxylase deficiency (THD) is a rare genetic disorder caused by biallelic pathogenic variants in the Th gene, leading to a deficiency in the rate-limiting enzyme for the synthesis of dopamine (DA) and other catecholamine neurotransmitters. THD is associated with dystonia and infantile parkinsonism with a broad and complex spectrum and variable response to l-Dopa therapy. TH1-p.R202H is a frequent THD variant that affects TH stability and activity. The Th knock-in (Th-ki) mice with the equivalent mutation (Th-p.R203H) present reduced TH and DA levels, biological and molecular alterations, different phosphorylation patterns and altered distribution of dopaminergic markers relative to wild-type mice. Th-ki mice displayed significantly reduced TH, especially in the striatum, but also in the cortex, olfactory bulb, cerebellum, substantia nigra, globus pallidus, and spinal cord, a decrease that is not associated with dopaminergic neuronal degeneration. No changes were observed in Th-mRNA expression, and the decreased level of TH in the concrete brain areas in Th-ki mice appears to be due to defective TH protein axonal transport. Moreover, we characterized the development of dopaminergic neurons in the substantia nigra and neuronal plasticity in various brain regions. Our results indicated that alterations in TH expression within specific striatal GABAergic interneurons due to TH deficiency may potentially disrupt the balance of inhibitory neurotransmission in the striatum. Overall, our findings demonstrate that TH deficiency disrupts striatal inhibitory circuitry and triggers compensatory neuronal plasticity, without causing neuronal degeneration.
Synchronous activation of striatal cholinergic interneurons induces local serotonin release.
Striatal cholinergic interneurons (CINs) can drive local dopamine release via nicotinic acetylcholine receptors (nAChRs) expressed on dopaminergic axons, but their role in modulating serotonin (5-HT) signaling is poorly understood. Here, we show that synchronous activation of CINs directly triggers local 5-HT release in the dorsal striatum via nAChRs expressed on serotonergic axons. This CIN-5-HT coupling is not detectable in the ventral striatum, despite its substantially denser serotonergic innervation. The nAChR-dependent release not only increases 5-HT levels in the dorsal striatum, but also expands the spatial footprint of serotonergic signaling. In Sapap3-/- mice, a model of obsessive-compulsive disorder (OCD)-like behavior, this mechanism is exaggerated due to a hypercholinergic state, selectively amplifying the nAChR-dependent component of monoamine release. These findings demonstrate a regionally confined form of acetylcholine-5-HT crosstalk in the striatum and identify CINs as regulators of 5-HT dynamics in both healthy and pathological states.
Fear extinction induces maladaptive generalization via noradrenergic and GABAergic systems.
Exposure therapy for anxiety disorders relies on fear extinction to reduce pathological fear responses. Here, we show that while effective at diminishing conditioned fear, extinction training paradoxically enhances fear generalization to safe stimuli through activation of the locus coeruleus-dentate gyrus (LC-DG) noradrenergic circuit. Specifically, LC norepinephrine release during extinction stimulates DG GABAergic neurons via β1-adrenergic receptors, engaging a PKA/CREB-dependent signaling cascade that ultimately leads to α4-GABAAR-mediated inhibition of granule cells and impaired threat discrimination. Genetic ablation of α4-GABAAR confirms their essential role. Crucially, this generalization can be prevented by targeting the pathway at distinct points: β1-AR blockade immediately after extinction or pharmacological inhibition of the PKA/CREB signal during the same postextinction window. These findings reveal that extinction produces competing neural consequences-adaptive fear suppression coupled with LC-DG-mediated maladaptive generalization. The identified molecular targets and their critical timing windows provide a neurobiological framework for improving exposure-based therapies.
Chronic Histamine Exposure Promotes Melanogenesis via ORAI1-STIM1-Mediated Calcium Signaling Remodeling.
Post-inflammatory hyperpigmentation (PIH) is a common pigmentary disorder characterized by excessive melanin production following skin inflammation. Histamine, a key inflammatory mediator, is known to stimulate melanogenesis via H2 receptors; however, the underlying calcium (Ca2+) signaling mechanisms remain largely unexplored. In this study, we investigated the role of the ORAI1-STIM1 complex in histamine-induced melanogenesis using B16F10 melanoma cells and normal human epidermal melanocytes (NHEMs). Histamine (10-30 μM) significantly increased melanin content (2.5-2.8-fold), an effect specifically abolished by the H2 antagonist famotidine. Notably, while acute histamine application failed to trigger immediate Ca2+ influx, chronic exposure significantly enhanced store-operated Ca2+ entry (SOCE) capacity by approximately 2.8-fold, providing evidence for a functional remodeling of the Ca2+ signaling machinery. Histamine-induced melanogenesis was significantly suppressed by intracellular Ca2+ chelation, pharmacological inhibition of ORAI1 (BTP-2 or Synta-66), and siRNA-mediated silencing of ORAI1 or STIM1, but not ORAI2, ORAI3, or STIM2. Our findings demonstrate that chronic histamine exposure drives hyperpigmentation through ORAI1-STIM1-mediated SOCE remodeling, establishing this complex as a promising therapeutic target for the treatment of PIH and related inflammatory pigmentary disorders.
Membrane Dysfunction as a Central Mechanism in LRRK2-Associated Parkinson's Disease: Comparative Analysis of G2019S and I1371V Variants.
Mutations in leucine-rich repeat kinase 2 (LRRK2) are among the most common genetic causes of Parkinson's disease (PD), yet substantial heterogeneity exists among pathogenic variants. How mutations in distinct functional domains of LRRK2 differentially perturb cellular homeostasis remains incompletely understood. Here, we compared two pathogenic LRRK2 mutations-G2019S in the kinase domain and I1371V in the GTPase domain-across multiple cellular models, including SH-SY5Y and U87 cells, and healthy human iPSC-derived floor plate cells. We demonstrate that the I1371V mutation induces markedly more severe cellular dysfunction than G2019S. I1371V-expressing cells exhibited elevated LRRK2 autophosphorylation at S1292 and robust hyperphosphorylation of Rab8A and Rab10, indicating enhanced downstream signaling. These alterations impaired sterol trafficking, leading to selective depletion of membrane cholesterol without changes in total cellular cholesterol. Consequently, I1371V cells displayed increased membrane fluidity, disrupted microdomain organization, altered membrane topology, reduced caveolin-1 expression, and impaired dopamine transporter surface expression and dopamine uptake. Lipidomic profiling further revealed a broad disruption of lipid homeostasis, including reductions in cholesteryl esters, sterols, sphingolipids, and glycerophospholipids, whereas G2019S cells showed comparatively modest changes. Pharmacological intervention revealed mutation-specific responses, with the non-selective LRRK2 modulator GW5074 outperforming the kinase-selective inhibitor MLi-2 in restoring Rab8A phosphorylation, membrane integrity, and dopaminergic function. Collectively, these findings identify membrane lipid dysregulation as a central cell biological mechanism in LRRK2-associated PD and underscore the importance of variant-specific therapeutic strategies.
Publicações recentes
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Rhubarb enhances gastrointestinal motility via calcium-mediated intestinal acetylcholine release: a network pharmacology study.
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Impaired cardiac non-neuronal acetylcholine synthesis triggers mitochondrial dysfunction with the loss of nicotinic receptor-mediated calcium handling, causing the failing heart.
Molecular basis of vesicular monoamine transport and neurological drug interactions.
📚 EuropePMCmostrando 200
Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.
Journal of inherited metabolic diseaseSynchronous activation of striatal cholinergic interneurons induces local serotonin release.
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Proceedings of the National Academy of Sciences of the United States of AmericaHypocretin receptor 1 blockade early in abstinence reduces future demand for cocaine.
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Scientific reportsSerotonin, Kynurenine, and Indole Pathways of Tryptophan Metabolism in Humans in Health and Disease.
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Proceedings of the National Academy of Sciences of the United States of AmericaVMAT2 dysfunction impairs vesicular dopamine uptake, driving its oxidation and α-synuclein pathology in DJ-1-linked Parkinson's neurons.
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Pharmacology & therapeuticsAltered serotonergic system and mood behaviors in a cuprizone-induced model of demyelination.
Multiple sclerosis and related disordersMulticolor Quantum Dot Tracking Uncovers Phenotypic Rescue of DAT A559V Aberrant Diffusion Upon D2R Antagonism.
ACS chemical neuroscienceAre glutathionylated aldehyde reductases the missing piece of the "catecholaldehyde hypothesis" in Parkinson's disease? A medical hypothesis concerning the detoxification of 4-hydroxynonenal (HNE) and 3,4-dihydroxyphenylacetaldehyde (DOPAL).
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Molecular neurobiologyPharmacological activity of a new ligand binding at the histamine site of the NMDA receptor in rodents.
European journal of pharmacologyα-Synuclein expression is required for somatodendritic dopamine release and immediate early gene induction.
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The Journal of clinical investigation"Summertime sadness": Striatal dopamine binding decreases during warmer seasons in patients with severe depression.
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European journal of pharmacologyVGLUT2 in Parkinson's disease: an emerging therapeutic target.
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International journal of molecular sciencesDisruption of the Placenta-Brain Axis in Transgenic Mice Lacking Serotonin Transporter (SERT) in Trophoblast Cells.
International journal of molecular sciencesElevated serotonin receptor 2A signaling restores learning and memory in a Fragile X syndrome model.
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Frontiers in endocrinologyMargatoxin Peptide: Preparation and the Potential Use for Biological Applications in Cancer and Neurological Disorders.
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Biological & pharmaceutical bulletinLPS-Induced Neuroinflammation Increases Serotonin-Evoked Activity of Trigeminal Afferents and Aggravates Mechanical Allodynia and Photophobic Behavior in Rat Migraine Model.
International journal of molecular sciencesDopamine and serotonin neurotransmissions exert complementary control over primate approach and avoidance.
Translational psychiatryDeciphering Ibogaine's Matrix Pharmacology: Multiple Transporter Modulation at Serotonin Synapses.
Journal of the American Chemical SocietyGestational physical exercise prevents early-life behavioral impairments in the offspring of a rat model of attention deficit hyperactivity disorder.
Scientific reportsTeneurin-4 knockdown disrupts dopamine dynamics and attenuates methamphetamine-induced behaviors.
NeuropharmacologyTNF-α signaling mediates the dopaminergic effects of methamphetamine by stimulating dopamine transporters and L-type Ca2+ channels.
Science signalingStructural basis for pharmacotherapeutic action of triple reuptake inhibitors.
Nature communicationsTime-specific perturbation of the serotonergic system differentially modulates the transcriptional landscape of hippocampal subregions in female rats.
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ACS chemical neuroscienceMicrobial dysbiosis alters serotonin signaling in a postinflammatory murine model of visceral pain.
American journal of physiology. Gastrointestinal and liver physiologyOreonudines A-H, Benzylisoquinoline-Derived Alkaloids with Diverse Skeletons from Oreomecon nudicaulis and Their Antidepressant Activities.
Journal of natural products[Research progress of neurotransmitters in lung injury after traumatic brain injury].
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MicrobiomePresynaptic GABAA receptors control integration of nicotinic input onto dopaminergic axons in the striatum.
Cell reportsGenetic Predisposition and Genetic Resilience Factors in Stress-Related Disorders During the Developmental Age: A Narrative Review.
GenesSpermidine Prevents Polarity Loss of Absorptive Enterocytes in Jejunum of Lipopolysaccharide-Challenged Mice via 4D-DIA Proteomics Analysis.
Journal of proteome researchTherapeutic potential of KATP channels in the attenuation of Parkinson's disease pathogenesis and progression - A review.
Neurochemistry internationalSerotonergic Neuromodulation of Natural Products Isoreserpine and Isoreserpiline in Adult Zebrafish: An in Silico and In Vivo Investigation.
Chemistry & biodiversityAltered Dopamine Signaling in Extinction-Deficient Mice.
eNeuroNoradrenergic α2 Receptor Modulates Cav2.2-Mediated Nociception in Parkinson's Disease Through Spinal Neuro-glial Network.
Molecular neurobiologyStructural basis of vilazodone dual binding mode to the serotonin transporter.
Nature communicationsTargeting Serotonin Pathways for Astronaut Safety and Performance.
Aerospace medicine and human performanceAssociation of dopamine depletion and cholinergic basal forebrain atrophy with brain metabolism and cognition in Parkinson's disease.
Journal of Parkinson's diseaseComparative Analysis of Cholinergic Machinery in Carcinomas: Discovery of Membrane-Tethered ChAT as Evidence for Surface-Based ACh Synthesis in Neuroblastoma Cells.
International journal of molecular sciencesCooperative Ionic Coordination Governs Dopamine Transporter Dynamics and Substrate Translocation: Mechanistic Insights from Molecular Simulations.
Journal of chemical information and modelingUnrevealing the role of hypothalamic corticotropin-releasing hormone neurons in blood pressure regulation in hypertension.
Cardiovascular researchSensitive and enzyme-free detection of epinephrine based on porous platinum nanoflowers assembling into multiwalled carbon nanotubes-graphene quantum dots hybrid modified electrode.
Mikrochimica actaTranscriptomics and Proteomics Identify Serotonin Transporter as a Promising Therapeutic Target for Essential Tremor.
Molecular & cellular proteomics : MCPImpaired cardiac non-neuronal acetylcholine synthesis triggers mitochondrial dysfunction with the loss of nicotinic receptor-mediated calcium handling, causing the failing heart.
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Cell reportsTransient Suppression of Dopamine Transporter Palmitoylation by Methamphetamine: Implications for Transport Regulation.
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BiomoleculesDisentangling the Effects of Suicide Attempts and Psychiatric Diagnosis Based on a Genotype-Informed Dynamic Model of the Serotonin Presynapse.
GenesAddressing the serotonin hypothesis of depression through analyses of genetics, methylation and metabolite variations in glioma patients.
Scientific reports[Neuroprotective effects of idebenone combined with borneol via the dopamine signaling pathway in a transgenic zebrafish model of Parkinson's disease].
Sheng wu yi xue gong cheng xue za zhi = Journal of biomedical engineering = Shengwu yixue gongchengxue zazhiAltered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency.
Movement disorders : official journal of the Movement Disorder SocietyRelationship between striatal dopaminergic depletion and cognitive milestone in Parkinson's disease: A comprehensive analysis of striatal subregions, laterality, and nonlinear relationships.
Journal of Alzheimer's disease : JADBlockade of hyperpolarization-activated cyclic nucleotide-gated (HCN) channels reduces alcohol-induced dopamine release and reward in rats.
Life sciencesNeuropharmacology of halogenated DMT analogs: psychoplastogenic and antidepressant properties of 5-Br-DMT, a psychedelic derivative with low hallucinogenic potential.
Molecular psychiatryEpigenetic alterations of serotonergic but not dopaminergic signalling in compulsive sexual behaviour disorder.
Behavioural brain researchDopamine disruption and autism phenotypes in slc6a3-/- zebrafish: Behavioural and molecular insights.
Progress in neuro-psychopharmacology & biological psychiatryAu@MOF-199 functionalized graphene oxide nanocomposite for simultaneous electrochemical detection of dopamine and uric acid.
TalantaThe Central Cholinergic Synapse: A Primer.
International journal of molecular sciencesThe Human Alpha3 Beta2 Neuronal Nicotinic Acetylcholine Receptor Can Form Two Distinguishable Subtypes.
International journal of molecular sciencesSerotonergic and Cholinergic Imbalance in the Offspring of Rats Exposed to Bisphenol A and Bisphenol S During Pregnancy and Lactation: Short- and Long-Term Effects.
International journal of molecular sciences[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 medicaChronic stress impairs autoinhibition in neurons of the locus coeruleus to increase asparagine endopeptidase activity.
eLifeNovel Ways of Targeting the Dopamine Transporter.
Advances in neurobiologyMonoamine Transporters in Drugs of Abuse: Insights from Fast Scan Cyclic Voltammetry.
Advances in neurobiologyCausal Mechanisms of Monoamine Transporter Phosphorylation.
Advances in neurobiologyRegulation of Dopamine Transporter Surface Expression.
Advances in neurobiologyCortical astrocyte histamine-1-receptors regulate intracellular calcium and extracellular adenosine dynamics across sleep and wake.
PLoS biologyImmunometabolic reprogramming of macrophages by gut microbiota-derived cadaverine controls colon inflammation.
Cell host & microbeModulation of Autism-Associated Serotonin Transporters by Palmitoylation: Insights into the Molecular Pathogenesis and Targeted Therapies for Autism Spectrum Disorder.
ACS chemical neuroscienceRegular versus Irregular Exercise Differentially Modulates Hippocampal-Hepatic Acetylcholine Flux to Coordinate Fear Memory Extinction and Liver Inflammation.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)[Effect of auricular point electrostimulation on pruritus induced by dextran in the mice].
Zhen ci yan jiu = Acupuncture researchMutational effects of the asparagine198 and glutamate223 residues on the human norepinephrine transporter on basal and HIV-1 Tat protein-induced inhibition of dopamine transport.
European journal of pharmacologyThe Role of Calcium-Independent Phospholipase A2 in the Molecular Mechanisms of Schizophrenia.
CellsMolecular and neural basis of vomiting behavior in Drosophila melanogaster.
Science advancesQuantitative Control of Zn2+ Photorelease: A Step toward Decoding Mechanisms of Subsecond Metal Signaling in the Brain.
Analytical chemistryBidirectional crosstalk between microglia and serotonin signaling in neuroinflammation and CNS disorders.
Frontiers in immunologyDopaminergic frontostriatal pathways in major depressive disorder and childhood sexual abuse: a multimodal neuroimaging investigation.
Molecular psychiatryFusobacterium nucleatum enhances amphetamine-induced behavioral responses through a butyrate-driven epigenetic mechanism.
Science signalingSynergistic stress-relieving and cognitive-enhancing effects of walnut peptide and theanine in human brain organoid and mouse stress models.
Phytomedicine : international journal of phytotherapy and phytopharmacologyPiezo knockdown reduces 5‑hydroxytryptamine release from enterochromaffin cells and exacerbates intestinal dyskinesia in mice with functional constipation.
International journal of molecular medicineCharacteristics of the 18F-fluorodeoxyglucose (18F-FDG) and [18F] 9-fluoropropyl-(+)-dihydrotetrabenazine (18F-FP-DTBZ) positron emission tomography (PET) in patients with cognitive impairment in Parkinson's disease.
Clinical radiologyAcetylation of Histones in the Nucleus Accumbens Increases the Expression of Dopamine Transporters to Regulate Executive Function in Sapap3 Knockout Mice.
Synapse (New York, N.Y.)Cell membrane cholesterol affects serotonin transporter efflux due to altered transporter oligomerization.
Molecular psychiatryRole of serotonin in the neurobiology of attention-deficit/hyperactivity disorder: a systematic literature review.
Expert opinion on therapeutic targetsA Common Cause of ADHD and Bipolar Disorder (BD).
Bipolar disordersEngineered spermidine-secreting Saccharomyces boulardii ameliorates colitis and colon cancer in mice.
Scientific reportsRole of Phosphorylation of Serotonin and Norepinephrine Transporters in Animal Behavior: Relevance to Neuropsychiatric Disorders.
International journal of molecular sciencesImpact of Manganese on Neuronal Function: An Exploratory Multi-Omics Study on Ferroalloy Workers in Brescia, Italy.
Brain sciencesCocaine chemogenetics blunts drug-seeking by synthetic physiology.
NatureCombinatorial effects of tryptophan derivatives serotonin and indole on virulence modulation of enteric pathogens.
mBioDopaminergic Modulation of Short-Term Associative Memory in Caenorhabditis elegans.
Journal of neurochemistryEvolution of polyamine resistance in Staphylococcus aureus through modulation of potassium transport.
mSphereSleep Deprivation Aggravates Periodontitis Through Trigeminal-Periodontal Neuroimmune Pathway Mediated by the AChE-ACh-α7nAChR Axis.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Phenotype Differences Between ATP13A2 Heterozygous and Knockout Mice Across Aging.
International journal of molecular sciencesProtective role of bovine lactoferrin in modulating the intestinal serotonergic system: Implications in intestinal inflammation.
The Journal of nutritional biochemistryAntidepressant in treating myocardial infarction complicated with depression via 5-HT/inflammation from heart to brain.
Journal of affective disordersNeurotoxic significance of H2O2 generation in nigral dopaminergic damage by paraquat and protective action of effusol and dehydroeffusol, Juncus effusus ingredients.
Brain researchAkkermansia muciniphila-Derived N-Acetylspermidine Modulates the Localization of Intestinal α1,2-Fucosylated Proteins to Maintain Gut Homeostasis.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Continuous Chest Compressions with Asynchronous Ventilation in Asphyxiated Preterm Lambs with Asystole.
NeonatologyNeural and dopaminergic substrates of festinating gait in Parkinson's disease.
Journal of neurologySynaptic enrichment of pSer129 alpha-synuclein correlates with dopaminergic denervation in early-stage Parkinson's disease.
Nature communicationsFocused ultrasound-triggered escitalopram delivery using microbubble-liposome complexes for rapid and sustained serotonin regulation in depression therapy.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieCAD (Cath. a-Differentiated) Cells Produce Dopamine along with Dopamine-Synthesizing Enzymes.
Neurochemical researchBromelain Alleviates Sleep Deprivation-Induced Intestinal Injury via TRPA1/5-HT Axis.
Journal of agricultural and food chemistryL-DOPA reverses the impaired working memory via lateral habenula Kv7.2 subunit-containing M-channels in experimental parkinsonism.
Pharmacology, biochemistry, and behaviorRole of Serotonin, Membrane Transporter, and 5-HT2 Receptors in Pathogenesis of Atherosclerotic Plaque Formation in Immature Heterozygous Low-Density Lipoprotein-Receptor-Deficient Mice.
International journal of molecular sciencesGabapentin fails to provide analgesia while duloxetine remains effective in an attention deficit hyperactivity disorder rat model with neuropathic pain.
Brain researchSelective loss of Scn2a in ventral tegmental area dopaminergic neurons leads to dopamine system hypofunction and autistic-like behaviors.
NeuronCognitive Performance in Early Neuronal Synuclein Disease with Hyposmia but without Motor Disability: Association with Dopamine Deficiency and Isolated Rapid Eye Movement Sleep Behavior Disorder.
Annals of neurologyGDM enhanced acetylcholine induced vasoconstriction in human umbilical vein via CHRM3 and CACNA1C upregulation linked to promoter hypomethylation.
Scientific reportsShort-term high-fat diet elevates oxidative stress in male but not female A53T mice without altering striatal dopaminergic markers.
Behavioural brain researchA multicenter longitudinal study of cholinergic subgroups in Parkinson disease.
Nature communicationsAssociation of Striatal Dopaminergic Depletion and Cerebral Perfusion With Cognition in Brain-First and Body-First Parkinson's Disease.
Clinical nuclear medicineEffects of selective serotonin reuptake inhibitors on the placenta†.
Biology of reproductionBiased Signaling Agonists of Dopamine D3 Receptor Differentially Regulate the Effects of Cocaine On Dopamine Transporter Function.
ACS chemical neuroscienceOGG1 Preserves Endothelial-Dependent Vasodilation and Regulates the Frequency and Spatial Area of Endothelial Calcium Signals.
BiomoleculesPancreatic acinar cell signalling and function exhibit an absolute requirement for activation of Gαq.
The Journal of physiologyPKC in the perspective of dopamine receptor signaling.
Acta biochimica PolonicaNorepinephrine system dysconnectivity in major depressive disorder: the effect of short term SSRI treatment.
European neuropsychopharmacology : the journal of the European College of NeuropsychopharmacologyEx vivo stimulation of the trigeminal nucleus caudalis induces peripheral CGRP release in the trigeminal ganglion and reveals a distinct dopamine-endocannabinoid mechanism relevant to migraine.
The journal of headache and painA large-scale multimodal investigation of the interplay between the serotonergic system and emotion processing.
Translational psychiatryColour discrimination deficit in REM sleep behavior disorder: an analysis of dopaminergic depletion, cognition, and brain morphology.
Journal of neural transmission (Vienna, Austria : 1996)A gatekeeper sympathetic control of lacrimal tear secretion and dry eye onset through the NA-Adra1a-Ucp2 pathway.
Nature communicationsTransient receptor potential vanilloid 2 (TRPV2) channels modulate the nigrostriatal dopaminergic activity in rats.
NeuropharmacologyPerinatal serotonin signalling dynamically influences the development of cortical GABAergic circuits with consequences for lifelong sensory encoding.
Nature communicationsKv1.3 knockdown attenuates alcohol-related liver injury in mice through induction of tryptamine.
Acta pharmacologica SinicaEfflux of N1-acetylspermidine from hepatoma fosters macrophage-mediated immune suppression to dampen immunotherapeutic efficacy.
ImmunityPrenatal serotonin depletion persistently disrupts social behavior and modulates ΔFosB and SERT expression in mice.
Pharmacology, biochemistry, and behaviorKappa opioid receptor antagonism restores phosphorylation, trafficking and behavior induced by a disease-associated dopamine transporter variant.
Molecular psychiatryVitamin C Transport Deficiency Alters Striatal Dopamine Gene Expression and Metabolism in YAC128 Huntington Disease Mice.
Genes, brain, and behaviorHuman umbilical cord-derived mesenchymal stem cells attenate histaminergic effect of intestinal mucosa through bax/bcl-2 pathway in food allergic enteritis.
Scientific reportsSerotonergic and Dopaminergic Function in Neuropsychiatrically Asymptomatic People With HIV on Antiretroviral Therapy.
Annals of clinical and translational neurologyEffect of cecal microbiota transplantation on peripheral 5-hydroxytryptamine and breast muscle glucose metabolism in long-photoperiod broilers.
Poultry scienceImpact of Manganese on Neuronal Function: An Exploratory MultiOmic Study on Ferroalloy Workers in Brescia, Italy.
medRxiv : the preprint server for health sciencesBioproduction of a Large-Scale Library of Tryptamine Derivatives for Neuropsychiatric Drug Screening.
ACS chemical biologyInhibition of TRPM3 channels in the medial prefrontal cortex mitigates OCD symptoms following traumatic brain injury.
InflammopharmacologyGlutamate-Based Therapeutic Strategies for Schizophrenia: Emerging Approaches Beyond Dopamine.
International journal of molecular sciencesDynamic Model of Serotonin Presynapse and Its Application to Suicide Attempt in Patients with Bipolar Disorder.
International journal of molecular sciencesEvaluation of the Alterations in Central Cholinergic Neurotransmission in Aging and Amyloid Precursor Protein Knock-In Mice.
Journal of neurochemistryHuman and rat ex vivo sweat glands for the observation of acetylcholine induced intracellular calcium signalling.
PloS oneα7nAChR on B cells directs T cell differentiation to prevent viral myocarditis.
JCI insightEnvironmental Factors Exacerbate Parkinsonian Phenotypes in an Asian-Specific Knock-In LRRK2 Risk Variant in Mice.
International journal of molecular sciences[Research progress of the dopamine system in neurological diseases].
Sheng li xue bao : [Acta physiologica Sinica]Serotonin innervation of the subthalamic nucleus in parkinsonian monkeys.
Neurobiology of diseaseStructure and mechanism of human vesicular polyamine transporter.
Nature communicationsNeuroregulation of histamine of circadian rhythm disorder induced by chronic intermittent hypoxia.
European journal of pharmacologyA comparative exploration of monoamine neurotransmitter transport disorders: mechanisms, clinical manifestations, and therapeutic approaches.
Journal of medicine and lifeAstaxanthin Mitigates ADHD Symptoms in Spontaneously Hypertensive Rats via Dopaminergic Modulation and Brain-Gut Axis Regulation.
Molecules (Basel, Switzerland)Lysosomal TPC2 channels disrupt Ca2+ entry and dopaminergic function in models of LRRK2-Parkinson's disease.
The Journal of cell biologyClonidine mitigates noise-induced hearing loss by regulating TRPC6-mediated calcium influx in cochlear hair cells.
Hearing researchAnti-central fatigue effects of myelophil in 5-HTergic hyperactivity mice model.
BMC complementary medicine and therapiesB cell-derived acetylcholine mitigates skin inflammation in mice through α9 nicotinic acetylcholine receptor-mediated signaling.
Proceedings of the National Academy of Sciences of the United States of AmericaSex Steroid Control of Serotonergic System: Clinical Implications for Psychiatric Disorders and Addiction Treatment.
Clinical and experimental pharmacology & physiologyAltered GABAergic Homeostasis in the Striatum of Dopamine Transporter Knockout Rats.
Current neuropharmacologyStructures of the human adult muscle-type nicotinic receptor in resting and desensitized states.
Cell reportsAbdominal Ultrasound Stimulation Alleviates Negative Symptoms Through Modulation of Serotonin Signaling and Gut Microbiota in the MK-801 Model of Schizophrenia.
Schizophrenia bulletinNeurotransmitter 5-HT Further Promotes LL-37-Induced Rosacea-like Inflammation Through HTR3A.
International journal of molecular sciencesPast, present, and future of serotonin-targeting therapeutics for Alzheimer's disease: Perspectives from DNA methylation.
Ageing research reviewsAbscisic Acid Rescues Behavior in Adult Female Mice in Attention Deficit Disorder with Hyperactivity Model of Dopamine Depletion by Regulating Microglia and Increasing Vesicular GABA Transporter Expression.
Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune PharmacologyTryptophan metabolism in migraine: a review of experimental and clinical studies and a need to enhance research strategies.
Reviews in the neurosciencesRepurposing serotonergic drugs for gastric cancer: induction of apoptosis in vitro.
Molecular biology reportsDesign and validation of novel brain-penetrant HCN channel inhibitors to ameliorate social stress-induced susceptible phenotype.
Molecular psychiatryThe selenocysteine-containing protein SELENOT maintains dopamine signaling in the midbrain to protect mice from hyperactivity disorder.
The EMBO journalControl of pili synthesis and putrescine homeostasis in Escherichia coli.
eLifeRevisiting eye blink in Parkinson's disease.
Scientific reportsDiallyl Trisulfide, an Active Substance from Garlic, Inhibits Female Oviposition by Decreasing the Expression of the OCT Gene, which is Highly Expressed in the Spermathecal Gland of Sitotroga cerealella (Oliver).
Journal of agricultural and food chemistryTherapeutic Effects of Pharmacological Modulation of Serotonin Brain System in Human Patients and Animal Models of Fragile X Syndrome.
International journal of molecular sciencesα-Conotoxin TxIB Reversed Nicotine-Induced Locomotor Sensitization and Nicotine-Enhanced Dopaminergic Activity in Mice.
Marine drugsPreclinical Profile of CM699 as a Medication Candidate for Stimulant Use Disorder.
ACS chemical neuroscienceExploring the impact of MDMA and oxytocin ligands on anxiety and social responses: A comprehensive behavioural and molecular study in the zebrafish model.
Journal of psychopharmacology (Oxford, England)α7-Nicotinic Acetylcholine Receptor and Mutated α-Synuclein Interact in Motor Behaviour and Nigrostriatal Dopamine-Findings With Potential Relevance for a Protective Effect of Cigarette Smoking and Parkinson's Disease.
The European journal of neuroscienceEnhancement of D1 dopaminergic responses in aged LRRK2 G2019S knock-in mice.
Neurobiology of diseaseUnveiling the potential abuse liability of α-D2PV: A novel α-carbon phenyl-substituted synthetic cathinone.
NeuropharmacologyAlarmone ppGpp modulates bacterial motility, zeamine production, and virulence of Dickeya oryzae through the regulation of and cooperation with the putrescine signaling mechanism.
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Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.
- Synchronous activation of striatal cholinergic interneurons induces local serotonin release.
- Fear extinction induces maladaptive generalization via noradrenergic and GABAergic systems.Proceedings of the National Academy of Sciences of the United States of America· 2026· PMID 41785321mais citado
- Chronic Histamine Exposure Promotes Melanogenesis via ORAI1-STIM1-Mediated Calcium Signaling Remodeling.
- Membrane Dysfunction as a Central Mechanism in LRRK2-Associated Parkinson's Disease: Comparative Analysis of G2019S and I1371V Variants.
- Rhubarb enhances gastrointestinal motility via calcium-mediated intestinal acetylcholine release: a network pharmacology study.
- ATP13A2-Mediated Spermine Export Modulates Lipid Catabolism in the Endolysosomal System of SH-SY5Y Cells.
- Impaired cardiac non-neuronal acetylcholine synthesis triggers mitochondrial dysfunction with the loss of nicotinic receptor-mediated calcium handling, causing the failing heart.
- Molecular basis of vesicular monoamine transport and neurological drug interactions.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:79214(Orphanet)
- MONDO:0019250(MONDO)
- GARD:18976(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55788566(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
