Raras
Buscar doenças, sintomas, genes...
Metabólica da neurotransmissão, anomalia
ORPHA:79214DOENÇA RARA

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.

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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.

Medicamentos
10 registrados
ELADOCAGENE EXUPARVOVEC, EDROPHONIUM, PHENYLEPHRINE

Tem tratamento?

10 medicamentos registrados
Ver detalhes, fases e interações →
ELADOCAGENE EXUPARVOVECEDROPHONIUMPHENYLEPHRINECLONIDINENITROPRUSSIDEPROPRANOLOLISOPROTERENOLATROPINEMETOCLOPRAMIDEAZD-8848
🏥
SUS: Cobertura mínimaScore: 20%
Centros em: PA, PR, SC, RS, ES +11
Você se identifica com essa condição?
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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
57 sintomas
🫃
Digestivo
13 sintomas
🦴
Ossos e articulações
12 sintomas
📏
Crescimento
10 sintomas
💪
Músculos
10 sintomas
👁️
Olhos
8 sintomas

+ 130 sintomas em outras categorias

Características mais comuns

Rigidez
Choro inapropriado
Anormalidade da coordenação
Estridor
Discinesia orofacial
Comprometimento cognitivo
274sintomas
Sem dados (274)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 274 características clínicas mais associadas, ordenadas por frequência.

RigidezRigidity
Choro inapropriadoInappropriate crying
Anormalidade da coordenaçãoAbnormality of coordination
EstridorStridor
Discinesia orofacialOrofacial dyskinesia

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1
Últimos 10 anos200publicações
Pico2025151 papers
Linha do tempo
2025Hoje · 2026
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

16 genes identificados com associação a esta condição.

THTyrosine 3-monooxygenaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

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).

LOCALIZAÇÃO

Cytoplasm, perinuclear regionNucleusCell projection, axonCytoplasmCytoplasmic vesicle, secretory vesicle, synaptic vesicle

VIAS BIOLÓGICAS (1)
Catecholamine biosynthesis
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Substância negra
45.8 TPM
Hipotálamo
14.1 TPM
Brain Caudate basal ganglia
5.4 TPM
Glândula adrenal
4.2 TPM
Brain Nucleus accumbens basal ganglia
3.6 TPM
OUTRAS DOENÇAS (1)
TH-deficient dopa-responsive dystonia
HGNC:11782UniProt:P07101
TSPOAP1Peripheral-type benzodiazepine receptor-associated protein 1Candidate gene tested inRestrito
FUNÇÃO

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

LOCALIZAÇÃO

CytoplasmMitochondrion

VIAS BIOLÓGICAS (6)
Serotonin Neurotransmitter Release CycleGlutamate Neurotransmitter Release CycleNorepinephrine Neurotransmitter Release CycleAcetylcholine Neurotransmitter Release CycleDopamine Neurotransmitter Release Cycle
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Córtex cerebral
88.0 TPM
Brain Anterior cingulate cortex BA24
77.8 TPM
Cerebelo
74.0 TPM
Brain Frontal Cortex BA9
72.3 TPM
Cérebro - Amígdala
59.8 TPM
OUTRAS DOENÇAS (3)
dystonia 22, juvenile-onsetdystonia 22, adult-onsetTH-deficient dopa-responsive dystonia
HGNC:16831UniProt:O95153
GPHNGephyrinCandidate gene tested inAltamente restrito
FUNÇÃO

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,

LOCALIZAÇÃO

Postsynaptic cell membraneCell membraneCytoplasm, cytosolCytoplasm, cytoskeletonCell projection, dendritePostsynaptic density

VIAS BIOLÓGICAS (1)
Molybdenum cofactor biosynthesis
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Cérebro - Hemisfério cerebelar
45.3 TPM
Cerebelo
39.3 TPM
Linfócitos
28.2 TPM
Brain Frontal Cortex BA9
18.1 TPM
Córtex cerebral
15.4 TPM
OUTRAS DOENÇAS (2)
sulfite oxidase deficiency due to molybdenum cofactor deficiency type Chereditary hyperekplexia
HGNC:15465UniProt:Q9NQX3
DBHDopamine beta-hydroxylaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the hydroxylation of dopamine to noradrenaline (also known as norepinephrine), and is thus vital for regulation of these neurotransmitters

LOCALIZAÇÃO

Cytoplasmic vesicle, secretory vesicle lumenCytoplasmic vesicle, secretory vesicle, chromaffin granule lumenSecretedCytoplasmic vesicle, secretory vesicle membraneCytoplasmic vesicle, secretory vesicle, chromaffin granule membrane

VIAS BIOLÓGICAS (1)
Catecholamine biosynthesis
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Fígado
23.6 TPM
Glândula adrenal
2.9 TPM
Pituitária
2.6 TPM
Córtex cerebral
2.5 TPM
Nervo tibial
2.2 TPM
OUTRAS DOENÇAS (1)
orthostatic hypotension 1
HGNC:2689UniProt:P09172
MAOAAmine oxidase [flavin-containing] ADisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Mitochondrion outer membrane

VIAS BIOLÓGICAS (7)
Norepinephrine Neurotransmitter Release CycleMetabolism of serotoninBiogenic amines are oxidatively deaminated to aldehydes by MAOA and MAOBEnzymatic degradation of dopamine by COMTEnzymatic degradation of Dopamine by monoamine oxidase
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Tecido adiposo
133.9 TPM
Intestino delgado
131.6 TPM
Esôfago - Muscular
125.8 TPM
Bladder
118.4 TPM
Artéria tibial
116.5 TPM
OUTRAS DOENÇAS (1)
Brunner syndrome
HGNC:6833UniProt:P21397
DDCAromatic-L-amino-acid decarboxylaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine and L-5-hydroxytryptophan to serotonin

LOCALIZAÇÃO

VIAS BIOLÓGICAS (2)
Serotonin and melatonin biosynthesisCatecholamine biosynthesis
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Rim - Córtex
38.2 TPM
Intestino delgado
36.5 TPM
Cólon transverso
19.2 TPM
Rim - Medula
13.9 TPM
Fígado
13.5 TPM
OUTRAS DOENÇAS (1)
aromatic L-amino acid decarboxylase deficiency
HGNC:2719UniProt:P20711
GLRA1Glycine receptor subunit alpha-1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Postsynaptic cell membraneSynapsePerikaryonCell projection, dendriteCell membrane

VIAS BIOLÓGICAS (1)
Neurotransmitter receptors and postsynaptic signal transmission
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Baixa expressão)
Hipotálamo
0.8 TPM
Substância negra
0.6 TPM
Cerebelo
0.3 TPM
Cérebro - Hemisfério cerebelar
0.3 TPM
Brain Spinal cord cervical c-1
0.3 TPM
OUTRAS DOENÇAS (2)
hyperekplexia 1hereditary hyperekplexia
HGNC:4326UniProt:P23415
BCHECholinesteraseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (2)
Synthesis of PCNeurotransmitter clearance
MECANISMO DE DOENÇA

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.

OUTRAS DOENÇAS (1)
butyrylcholinesterase deficiency
HGNC:983UniProt:P06276
PLPBPPyridoxal phosphate homeostasis proteinDisease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

MECANISMO DE DOENÇA

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.

INTERAÇÕES PROTEICAS (4)
OUTRAS DOENÇAS (2)
epilepsy, early-onset, vitamin B6-dependentpyridoxine-dependent epilepsy
HGNC:9457UniProt:O94903
ATAD1Outer mitochondrial transmembrane helix translocaseDisease-causing germline mutation(s) inModerado
FUNÇÃO

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

LOCALIZAÇÃO

Mitochondrion outer membranePeroxisome membranePostsynaptic cell membrane

VIAS BIOLÓGICAS (1)
Class I peroxisomal membrane protein import
MECANISMO DE DOENÇA

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.

OUTRAS DOENÇAS (2)
hyperekplexia 4hereditary hyperekplexia
HGNC:25903UniProt:Q8NBU5
SLC6A5Sodium- and chloride-dependent glycine transporter 2Disease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Cell membrane

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

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.

EXPRESSÃO TECIDUAL(Baixa expressão)
Cerebelo
1.1 TPM
Testículo
1.1 TPM
Pituitária
1.1 TPM
Cérebro - Hemisfério cerebelar
1.0 TPM
Brain Spinal cord cervical c-1
0.2 TPM
OUTRAS DOENÇAS (2)
hyperekplexia 3hereditary hyperekplexia
HGNC:11051UniProt:Q9Y345
ARHGEF9Rho guanine nucleotide exchange factor 9Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Acts as a guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters (By similarity)

LOCALIZAÇÃO

CytoplasmPostsynaptic density

VIAS BIOLÓGICAS (5)
G alpha (12/13) signalling eventsNRAGE signals death through JNKGABA receptor activationRHOQ GTPase cycleCDC42 GTPase cycle
MECANISMO DE DOENÇA

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.

OUTRAS DOENÇAS (1)
developmental and epileptic encephalopathy, 8
HGNC:14561UniProt:O43307
ALDH7A1Alpha-aminoadipic semialdehyde dehydrogenaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

MitochondrionCytoplasm, cytosolCell membraneGolgi apparatus membraneNucleus

VIAS BIOLÓGICAS (2)
Choline catabolismLysine catabolism
MECANISMO DE DOENÇA

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.

OUTRAS DOENÇAS (2)
pyridoxine-dependent epilepsy caused by ALDH7A1 mutantpyridoxine-dependent epilepsy
HGNC:877UniProt:P49419
GLRBGlycine receptor subunit betaDisease-causing germline mutation(s) inTolerante
FUNÇÃO

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)

LOCALIZAÇÃO

Postsynaptic cell membraneSynapseCell projection, dendriteCell membraneCytoplasm

VIAS BIOLÓGICAS (1)
Neurotransmitter receptors and postsynaptic signal transmission
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Brain Frontal Cortex BA9
52.8 TPM
Cérebro - Hemisfério cerebelar
35.1 TPM
Córtex cerebral
26.7 TPM
Cerebelo
24.5 TPM
Brain Anterior cingulate cortex BA24
22.5 TPM
OUTRAS DOENÇAS (2)
hyperekplexia 2hereditary hyperekplexia
HGNC:4329UniProt:P48167
PNPOPyridoxine-5'-phosphate oxidaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the oxidation of either pyridoxine 5'-phosphate (PNP) or pyridoxamine 5'-phosphate (PMP) into pyridoxal 5'-phosphate (PLP)

LOCALIZAÇÃO

VIAS BIOLÓGICAS (1)
Vitamin B6 activation to pyridoxal phosphate
MECANISMO DE DOENÇA

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,.

EXPRESSÃO TECIDUAL(Ubíquo)
Fígado
26.9 TPM
Linfócitos
25.9 TPM
Glândula adrenal
19.9 TPM
Tireoide
18.6 TPM
Fibroblastos
16.5 TPM
OUTRAS DOENÇAS (1)
pyridoxal phosphate-responsive seizures
HGNC:30260UniProt:Q9NVS9
SLC18A2Synaptic vesicular amine transporterDisease-causing germline mutation(s) inTolerante
FUNÇÃO

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:

LOCALIZAÇÃO

Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membraneCytoplasmic vesicle, secretory vesicle membraneCell projection, axonCell projection, dendrite

VIAS BIOLÓGICAS (3)
Serotonin Neurotransmitter Release CycleDopamine Neurotransmitter Release CycleNorepinephrine Neurotransmitter Release Cycle
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Vagina
8.0 TPM
Ovário
6.9 TPM
Cervix Endocervix
6.0 TPM
Cervix Ectocervix
5.9 TPM
Pulmão
5.4 TPM
OUTRAS DOENÇAS (1)
brain dopamine-serotonin vesicular transport disease
HGNC:10935UniProt:Q05940

Medicamentos e terapias

ELADOCAGENE EXUPARVOVECPhase 2

Mecanismo: DDC exogenous gene

EDROPHONIUMPhase 1

Mecanismo: Acetylcholinesterase inhibitor

PHENYLEPHRINEPhase 1

Mecanismo: Adrenergic receptor alpha-1 agonist

CLONIDINEPhase 1

Mecanismo: Adrenergic receptor alpha-2 agonist

NITROPRUSSIDEPhase 1

Mecanismo: Soluble guanylate cyclase activator

PROPRANOLOLPhase 1

Mecanismo: Beta-1 adrenergic receptor antagonist

ISOPROTERENOLPhase 1

Mecanismo: Adrenergic receptor beta agonist

ATROPINEPhase 1

Mecanismo: Muscarinic acetylcholine receptor M1 antagonist

METOCLOPRAMIDEPhase 1

Mecanismo: Serotonin 3a (5-HT3a) receptor antagonist

AZD-8848Phase 1

Mecanismo: Toll-like receptor 7 agonist

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

1,552 variantes patogênicas registradas no ClinVar.

🧬 TH: NM_000360.4(TH):c.645-15T>G ()
🧬 TH: NM_000360.4(TH):c.696-19T>C ()
🧬 TH: NM_000360.4(TH):c.197A>C (p.Asp66Ala) ()
🧬 TH: NM_000360.4(TH):c.1002G>A (p.Gly334=) ()
🧬 TH: NM_000360.4(TH):c.91-834C>T ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

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.
2Fase 21
1Fase 19
Medicamentos catalogadosEnsaios clínicos· 10 medicamentos · 0 ensaios
Carregando informações de tratamento...

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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 Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

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 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 Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

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

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Hospital das Clínicas da UFG

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

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Hospital das Clínicas da UFG

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

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Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

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Hospital das Clínicas da UFMG

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

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Hospital das Clínicas da UFMG

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

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NUPAD / Faculdade de Medicina UFMG

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

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Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

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Hospital Universitário João de Barros Barreto

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

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Hospital Universitário João de Barros Barreto

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

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Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

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Hospital de Clínicas da Universidade Federal de Pernambuco

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

Atenção Especializada

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Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

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

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Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

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

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Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

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Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

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Hospital de Clínicas da UFPR

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

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Hospital de Clínicas da UFPR

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

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Hospital Universitário Pedro Ernesto (HUPE-UERJ)

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

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Hospital Universitário Pedro Ernesto (HUPE-UERJ)

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

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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

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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

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Hospital Universitário Onofre Lopes (HUOL)

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

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Hospital São Lucas da PUCRS

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

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Hospital São Lucas da PUCRS

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

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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

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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

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Hospital Universitário da UFSC (HU-UFSC)

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

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Hospital Universitário da UFSC (HU-UFSC)

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

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Hospital das Clínicas da FMUSP

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

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Hospital das Clínicas da FMUSP

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

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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

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Hospital de Clínicas da UNICAMP

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

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Hospital de Clínicas da UNICAMP

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

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Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

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

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Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

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

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Instituto da Criança e do Adolescente (ICr-HCFMUSP)

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

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UNIFESP / Hospital São Paulo

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

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UNIFESP / Hospital São Paulo

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

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.

Journal of inherited metabolic disease2026 Mar

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.

#2

Synchronous activation of striatal cholinergic interneurons induces local serotonin release.

Nature communications2026 Mar 16

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.

#3

Fear extinction induces maladaptive generalization via noradrenergic and GABAergic systems.

Proceedings of the National Academy of Sciences of the United States of America2026 Mar 10

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.

#4

Chronic Histamine Exposure Promotes Melanogenesis via ORAI1-STIM1-Mediated Calcium Signaling Remodeling.

International journal of molecular sciences2026 Feb 22

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.

#5

Membrane Dysfunction as a Central Mechanism in LRRK2-Associated Parkinson's Disease: Comparative Analysis of G2019S and I1371V Variants.

Cells2026 Feb 13

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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2026

Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.

Journal of inherited metabolic disease
2026

Synchronous activation of striatal cholinergic interneurons induces local serotonin release.

Nature communications
2026

Fear extinction induces maladaptive generalization via noradrenergic and GABAergic systems.

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

Hypocretin receptor 1 blockade early in abstinence reduces future demand for cocaine.

Neuropharmacology
2026

NMDA receptor antagonism requires serotonin and noradrenaline to induce antidepressant-like effects in a treatment-resistant depression rat model.

European journal of pharmacology
2026

Exploring the neurofunctional potential of saffron bioactives: from mood-related behavioral modulation to brain access of safranal.

Food & function
2026

Chronic Histamine Exposure Promotes Melanogenesis via ORAI1-STIM1-Mediated Calcium Signaling Remodeling.

International journal of molecular sciences
2026

Membrane Dysfunction as a Central Mechanism in LRRK2-Associated Parkinson's Disease: Comparative Analysis of G2019S and I1371V Variants.

Cells
2026

Alterations in the jejunal 5-hydroxytryptamine synthesis and turnover in septic mice induced by cecal ligation and puncture.

Toxicology and applied pharmacology
2026

Novel positive allosteric modulators of alpha 5 subunit-containing GABAA receptors (α5-GABAARs) reverse the hyperdopaminergic state in a neurodevelopmental model of schizophrenia.

Schizophrenia research
2026

Multiomics analysis of polyamine metabolism in colorectal cancer, highlighting the key role of extracellular putrescine in impairing CXCR6+CD8+ T cell anti-tumor activity.

PeerJ
2026

Alpha-methyl-para-tyrosine and amphetamine ameliorate hyperactivity in a novel mouse model of dopamine transporter deficiency syndrome.

EMBO molecular medicine
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

Rhubarb enhances gastrointestinal motility via calcium-mediated intestinal acetylcholine release: a network pharmacology study.

Scientific reports
2026

Serotonin, Kynurenine, and Indole Pathways of Tryptophan Metabolism in Humans in Health and Disease.

Nutrients
2026

Synaptogyrin-3 plays a critical role in addiction-related dopamine dysfunction and behavioral maladaptations.

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

VMAT2 dysfunction impairs vesicular dopamine uptake, driving its oxidation and α-synuclein pathology in DJ-1-linked Parkinson's neurons.

Science advances
2026

An emerging role for synaptic Zn2+ in substance use disorders.

Pharmacology & therapeutics
2026

Altered serotonergic system and mood behaviors in a cuprizone-induced model of demyelination.

Multiple sclerosis and related disorders
2026

Multicolor Quantum Dot Tracking Uncovers Phenotypic Rescue of DAT A559V Aberrant Diffusion Upon D2R Antagonism.

ACS chemical neuroscience
2026

Are 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).

Redox biology
2026

Prenatal Stress and Prenatal Alcohol Alter the Adult Dopamine System and Alcohol Consumption: Dopamine Drives Drinking Behavior in a Prospective 20-Year Longitudinal Experiment with Rhesus Macaques.

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

Neuropeptide S Protects Dopaminergic Neurons in a Paraquat-Induced Parkinson's Model Using SH-SY5Y Cells.

Molecular neurobiology
2026

Pharmacological activity of a new ligand binding at the histamine site of the NMDA receptor in rodents.

European journal of pharmacology
2026

α-Synuclein expression is required for somatodendritic dopamine release and immediate early gene induction.

Science advances
2026

Mouse model of atypical DAT deficiency syndrome uncovers dopamine dysfunction associated with parkinsonism and ADHD.

The Journal of clinical investigation
2026

"Summertime sadness": Striatal dopamine binding decreases during warmer seasons in patients with severe depression.

Psychiatry research. Neuroimaging
2026

Neurochemical and behavioral evidence of high abuse liability of 3F-NEB, a novel synthetic cathinone.

European journal of pharmacology
2026

VGLUT2 in Parkinson's disease: an emerging therapeutic target.

Expert opinion on therapeutic targets
2026

Intrinsic connectivity patterns of striatal subfields predict individual dimensions of psychopathology and are associated with cholinergic and serotonergic neurotransmission in schizophrenia.

Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology
2026

Synaptic effects of interleukin-6 on human iPSC-derived dopaminergic neurons.

Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology
2026

ATP13A2-Mediated Spermine Export Modulates Lipid Catabolism in the Endolysosomal System of SH-SY5Y Cells.

International journal of molecular sciences
2025

Disruption of the Placenta-Brain Axis in Transgenic Mice Lacking Serotonin Transporter (SERT) in Trophoblast Cells.

International journal of molecular sciences
2026

Elevated serotonin receptor 2A signaling restores learning and memory in a Fragile X syndrome model.

Scientific reports
2025

Placental serotonergic system dysregulation is associated with early impairments in infant neurodevelopment.

Frontiers in endocrinology
2025

Margatoxin Peptide: Preparation and the Potential Use for Biological Applications in Cancer and Neurological Disorders.

Protein and peptide letters
2025

Effects of Kamikihito on the Noradrenergic System and Its Pharmacokinetic Profile.

Biological & pharmaceutical bulletin
2025

LPS-Induced Neuroinflammation Increases Serotonin-Evoked Activity of Trigeminal Afferents and Aggravates Mechanical Allodynia and Photophobic Behavior in Rat Migraine Model.

International journal of molecular sciences
2025

Dopamine and serotonin neurotransmissions exert complementary control over primate approach and avoidance.

Translational psychiatry
2026

Deciphering Ibogaine's Matrix Pharmacology: Multiple Transporter Modulation at Serotonin Synapses.

Journal of the American Chemical Society
2025

Gestational physical exercise prevents early-life behavioral impairments in the offspring of a rat model of attention deficit hyperactivity disorder.

Scientific reports
2026

Teneurin-4 knockdown disrupts dopamine dynamics and attenuates methamphetamine-induced behaviors.

Neuropharmacology
2025

TNF-α signaling mediates the dopaminergic effects of methamphetamine by stimulating dopamine transporters and L-type Ca2+ channels.

Science signaling
2025

Structural basis for pharmacotherapeutic action of triple reuptake inhibitors.

Nature communications
2026

Time-specific perturbation of the serotonergic system differentially modulates the transcriptional landscape of hippocampal subregions in female rats.

Biochemical pharmacology
2026

A co-culture model of dopaminergic and glutamatergic neurons derived from patients with idiopathic schizophrenia reveals a hypodopaminergic phenotype.

Molecular psychiatry
2025

Degenerative pathologies on cortical biopsy, dopaminergic depletion, and shunt efficacy in iNPH.

Alzheimer's & dementia : the journal of the Alzheimer's Association
2025

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

Nature communications
2026

Dopaminergic tone inhibits spontaneous glutamate release and augments homeostatic synaptic plasticity.

Molecular psychiatry
2025

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

ACS chemical neuroscience
2026

Microbial dysbiosis alters serotonin signaling in a postinflammatory murine model of visceral pain.

American journal of physiology. Gastrointestinal and liver physiology
2025

Oreonudines A-H, Benzylisoquinoline-Derived Alkaloids with Diverse Skeletons from Oreomecon nudicaulis and Their Antidepressant Activities.

Journal of natural products
2025

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

Zhonghua wei zhong bing ji jiu yi xue
2025

L. johnsonii alleviates methamphetamine craving via the metabolism of tyrosine.

Microbiome
2025

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

Cell reports
2025

Genetic Predisposition and Genetic Resilience Factors in Stress-Related Disorders During the Developmental Age: A Narrative Review.

Genes
2025

Spermidine Prevents Polarity Loss of Absorptive Enterocytes in Jejunum of Lipopolysaccharide-Challenged Mice via 4D-DIA Proteomics Analysis.

Journal of proteome research
2026

Therapeutic potential of KATP channels in the attenuation of Parkinson's disease pathogenesis and progression - A review.

Neurochemistry international
2026

Serotonergic Neuromodulation of Natural Products Isoreserpine and Isoreserpiline in Adult Zebrafish: An in Silico and In Vivo Investigation.

Chemistry & biodiversity
2025

Altered Dopamine Signaling in Extinction-Deficient Mice.

eNeuro
2025

Noradrenergic α2 Receptor Modulates Cav2.2-Mediated Nociception in Parkinson's Disease Through Spinal Neuro-glial Network.

Molecular neurobiology
2025

Structural basis of vilazodone dual binding mode to the serotonin transporter.

Nature communications
2025

Targeting Serotonin Pathways for Astronaut Safety and Performance.

Aerospace medicine and human performance
2026

Association of dopamine depletion and cholinergic basal forebrain atrophy with brain metabolism and cognition in Parkinson's disease.

Journal of Parkinson's disease
2025

Comparative 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 sciences
2025

Cooperative Ionic Coordination Governs Dopamine Transporter Dynamics and Substrate Translocation: Mechanistic Insights from Molecular Simulations.

Journal of chemical information and modeling
2025

Unrevealing the role of hypothalamic corticotropin-releasing hormone neurons in blood pressure regulation in hypertension.

Cardiovascular research
2025

Sensitive and enzyme-free detection of epinephrine based on porous platinum nanoflowers assembling into multiwalled carbon nanotubes-graphene quantum dots hybrid modified electrode.

Mikrochimica acta
2025

Transcriptomics and Proteomics Identify Serotonin Transporter as a Promising Therapeutic Target for Essential Tremor.

Molecular & cellular proteomics : MCP
2025

Impaired cardiac non-neuronal acetylcholine synthesis triggers mitochondrial dysfunction with the loss of nicotinic receptor-mediated calcium handling, causing the failing heart.

Clinical science (London, England : 1979)
2025

Molecular basis of vesicular monoamine transport and neurological drug interactions.

Cell reports
2025

Transient Suppression of Dopamine Transporter Palmitoylation by Methamphetamine: Implications for Transport Regulation.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2025

Age-Dependent Redistribution of the Life-Important Enzyme in the Retina: Adult Müller Glial Cells' Endfeet Lack Spermine Synthase Expression.

Biomolecules
2025

Disentangling the Effects of Suicide Attempts and Psychiatric Diagnosis Based on a Genotype-Informed Dynamic Model of the Serotonin Presynapse.

Genes
2025

Addressing the serotonin hypothesis of depression through analyses of genetics, methylation and metabolite variations in glioma patients.

Scientific reports
2025

[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 zazhi
2026

Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency.

Movement disorders : official journal of the Movement Disorder Society
2025

Relationship 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 : JAD
2025

Blockade of hyperpolarization-activated cyclic nucleotide-gated (HCN) channels reduces alcohol-induced dopamine release and reward in rats.

Life sciences
2026

Neuropharmacology of halogenated DMT analogs: psychoplastogenic and antidepressant properties of 5-Br-DMT, a psychedelic derivative with low hallucinogenic potential.

Molecular psychiatry
2026

Epigenetic alterations of serotonergic but not dopaminergic signalling in compulsive sexual behaviour disorder.

Behavioural brain research
2025

Dopamine disruption and autism phenotypes in slc6a3-/- zebrafish: Behavioural and molecular insights.

Progress in neuro-psychopharmacology & biological psychiatry
2026

Au@MOF-199 functionalized graphene oxide nanocomposite for simultaneous electrochemical detection of dopamine and uric acid.

Talanta
2025

The Central Cholinergic Synapse: A Primer.

International journal of molecular sciences
2025

The Human Alpha3 Beta2 Neuronal Nicotinic Acetylcholine Receptor Can Form Two Distinguishable Subtypes.

International journal of molecular sciences
2025

Serotonergic 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
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

Chronic stress impairs autoinhibition in neurons of the locus coeruleus to increase asparagine endopeptidase activity.

eLife
2025

Novel Ways of Targeting the Dopamine Transporter.

Advances in neurobiology
2025

Monoamine Transporters in Drugs of Abuse: Insights from Fast Scan Cyclic Voltammetry.

Advances in neurobiology
2025

Causal Mechanisms of Monoamine Transporter Phosphorylation.

Advances in neurobiology
2025

Regulation of Dopamine Transporter Surface Expression.

Advances in neurobiology
2025

Cortical astrocyte histamine-1-receptors regulate intracellular calcium and extracellular adenosine dynamics across sleep and wake.

PLoS biology
2025

Immunometabolic reprogramming of macrophages by gut microbiota-derived cadaverine controls colon inflammation.

Cell host & microbe
2025

Modulation of Autism-Associated Serotonin Transporters by Palmitoylation: Insights into the Molecular Pathogenesis and Targeted Therapies for Autism Spectrum Disorder.

ACS chemical neuroscience
2025

Regular versus Irregular Exercise Differentially Modulates Hippocampal-Hepatic Acetylcholine Flux to Coordinate Fear Memory Extinction and Liver Inflammation.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2025

[Effect of auricular point electrostimulation on pruritus induced by dextran in the mice].

Zhen ci yan jiu = Acupuncture research
2025

Mutational 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 pharmacology
2025

The Role of Calcium-Independent Phospholipase A2 in the Molecular Mechanisms of Schizophrenia.

Cells
2025

Molecular and neural basis of vomiting behavior in Drosophila melanogaster.

Science advances
2025

Quantitative Control of Zn2+ Photorelease: A Step toward Decoding Mechanisms of Subsecond Metal Signaling in the Brain.

Analytical chemistry
2025

Bidirectional crosstalk between microglia and serotonin signaling in neuroinflammation and CNS disorders.

Frontiers in immunology
2026

Dopaminergic frontostriatal pathways in major depressive disorder and childhood sexual abuse: a multimodal neuroimaging investigation.

Molecular psychiatry
2025

Fusobacterium nucleatum enhances amphetamine-induced behavioral responses through a butyrate-driven epigenetic mechanism.

Science signaling
2025

Synergistic 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 phytopharmacology
2025

Piezo knockdown reduces 5‑hydroxytryptamine release from enterochromaffin cells and exacerbates intestinal dyskinesia in mice with functional constipation.

International journal of molecular medicine
2025

Characteristics 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 radiology
2025

Acetylation 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.)
2026

Cell membrane cholesterol affects serotonin transporter efflux due to altered transporter oligomerization.

Molecular psychiatry
2025

Role of serotonin in the neurobiology of attention-deficit/hyperactivity disorder: a systematic literature review.

Expert opinion on therapeutic targets
2025

A Common Cause of ADHD and Bipolar Disorder (BD).

Bipolar disorders
2025

Engineered spermidine-secreting Saccharomyces boulardii ameliorates colitis and colon cancer in mice.

Scientific reports
2025

Role of Phosphorylation of Serotonin and Norepinephrine Transporters in Animal Behavior: Relevance to Neuropsychiatric Disorders.

International journal of molecular sciences
2025

Impact of Manganese on Neuronal Function: An Exploratory Multi-Omics Study on Ferroalloy Workers in Brescia, Italy.

Brain sciences
2025

Cocaine chemogenetics blunts drug-seeking by synthetic physiology.

Nature
2025

Combinatorial effects of tryptophan derivatives serotonin and indole on virulence modulation of enteric pathogens.

mBio
2025

Dopaminergic Modulation of Short-Term Associative Memory in Caenorhabditis elegans.

Journal of neurochemistry
2025

Evolution of polyamine resistance in Staphylococcus aureus through modulation of potassium transport.

mSphere
2025

Sleep Deprivation Aggravates Periodontitis Through Trigeminal-Periodontal Neuroimmune Pathway Mediated by the AChE-ACh-α7nAChR Axis.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2025

Phenotype Differences Between ATP13A2 Heterozygous and Knockout Mice Across Aging.

International journal of molecular sciences
2025

Protective role of bovine lactoferrin in modulating the intestinal serotonergic system: Implications in intestinal inflammation.

The Journal of nutritional biochemistry
2025

Antidepressant in treating myocardial infarction complicated with depression via 5-HT/inflammation from heart to brain.

Journal of affective disorders
2025

Neurotoxic significance of H2O2 generation in nigral dopaminergic damage by paraquat and protective action of effusol and dehydroeffusol, Juncus effusus ingredients.

Brain research
2025

Akkermansia muciniphila-Derived N-Acetylspermidine Modulates the Localization of Intestinal α1,2-Fucosylated Proteins to Maintain Gut Homeostasis.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2025

Continuous Chest Compressions with Asynchronous Ventilation in Asphyxiated Preterm Lambs with Asystole.

Neonatology
2025

Neural and dopaminergic substrates of festinating gait in Parkinson's disease.

Journal of neurology
2025

Synaptic enrichment of pSer129 alpha-synuclein correlates with dopaminergic denervation in early-stage Parkinson's disease.

Nature communications
2025

Focused ultrasound-triggered escitalopram delivery using microbubble-liposome complexes for rapid and sustained serotonin regulation in depression therapy.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
2025

CAD (Cath. a-Differentiated) Cells Produce Dopamine along with Dopamine-Synthesizing Enzymes.

Neurochemical research
2025

Bromelain Alleviates Sleep Deprivation-Induced Intestinal Injury via TRPA1/5-HT Axis.

Journal of agricultural and food chemistry
2025

L-DOPA reverses the impaired working memory via lateral habenula Kv7.2 subunit-containing M-channels in experimental parkinsonism.

Pharmacology, biochemistry, and behavior
2025

Role 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 sciences
2025

Gabapentin fails to provide analgesia while duloxetine remains effective in an attention deficit hyperactivity disorder rat model with neuropathic pain.

Brain research
2025

Selective loss of Scn2a in ventral tegmental area dopaminergic neurons leads to dopamine system hypofunction and autistic-like behaviors.

Neuron
2025

Cognitive 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 neurology
2025

GDM enhanced acetylcholine induced vasoconstriction in human umbilical vein via CHRM3 and CACNA1C upregulation linked to promoter hypomethylation.

Scientific reports
2025

Short-term high-fat diet elevates oxidative stress in male but not female A53T mice without altering striatal dopaminergic markers.

Behavioural brain research
2025

A multicenter longitudinal study of cholinergic subgroups in Parkinson disease.

Nature communications
2025

Association of Striatal Dopaminergic Depletion and Cerebral Perfusion With Cognition in Brain-First and Body-First Parkinson's Disease.

Clinical nuclear medicine
2025

Effects of selective serotonin reuptake inhibitors on the placenta†.

Biology of reproduction
2025

Biased Signaling Agonists of Dopamine D3 Receptor Differentially Regulate the Effects of Cocaine On Dopamine Transporter Function.

ACS chemical neuroscience
2025

OGG1 Preserves Endothelial-Dependent Vasodilation and Regulates the Frequency and Spatial Area of Endothelial Calcium Signals.

Biomolecules
2025

Pancreatic acinar cell signalling and function exhibit an absolute requirement for activation of Gαq.

The Journal of physiology
2025

PKC in the perspective of dopamine receptor signaling.

Acta biochimica Polonica
2025

Norepinephrine system dysconnectivity in major depressive disorder: the effect of short term SSRI treatment.

European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology
2025

Ex 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 pain
2025

A large-scale multimodal investigation of the interplay between the serotonergic system and emotion processing.

Translational psychiatry
2025

Colour discrimination deficit in REM sleep behavior disorder: an analysis of dopaminergic depletion, cognition, and brain morphology.

Journal of neural transmission (Vienna, Austria : 1996)
2025

A gatekeeper sympathetic control of lacrimal tear secretion and dry eye onset through the NA-Adra1a-Ucp2 pathway.

Nature communications
2025

Transient receptor potential vanilloid 2 (TRPV2) channels modulate the nigrostriatal dopaminergic activity in rats.

Neuropharmacology
2025

Perinatal serotonin signalling dynamically influences the development of cortical GABAergic circuits with consequences for lifelong sensory encoding.

Nature communications
2025

Kv1.3 knockdown attenuates alcohol-related liver injury in mice through induction of tryptamine.

Acta pharmacologica Sinica
2025

Efflux of N1-acetylspermidine from hepatoma fosters macrophage-mediated immune suppression to dampen immunotherapeutic efficacy.

Immunity
2025

Prenatal serotonin depletion persistently disrupts social behavior and modulates ΔFosB and SERT expression in mice.

Pharmacology, biochemistry, and behavior
2025

Kappa opioid receptor antagonism restores phosphorylation, trafficking and behavior induced by a disease-associated dopamine transporter variant.

Molecular psychiatry
2025

Vitamin C Transport Deficiency Alters Striatal Dopamine Gene Expression and Metabolism in YAC128 Huntington Disease Mice.

Genes, brain, and behavior
2025

Human umbilical cord-derived mesenchymal stem cells attenate histaminergic effect of intestinal mucosa through bax/bcl-2 pathway in food allergic enteritis.

Scientific reports
2025

Serotonergic and Dopaminergic Function in Neuropsychiatrically Asymptomatic People With HIV on Antiretroviral Therapy.

Annals of clinical and translational neurology
2025

Effect of cecal microbiota transplantation on peripheral 5-hydroxytryptamine and breast muscle glucose metabolism in long-photoperiod broilers.

Poultry science
2025

Impact of Manganese on Neuronal Function: An Exploratory MultiOmic Study on Ferroalloy Workers in Brescia, Italy.

medRxiv : the preprint server for health sciences
2025

Bioproduction of a Large-Scale Library of Tryptamine Derivatives for Neuropsychiatric Drug Screening.

ACS chemical biology
2025

Inhibition of TRPM3 channels in the medial prefrontal cortex mitigates OCD symptoms following traumatic brain injury.

Inflammopharmacology
2025

Glutamate-Based Therapeutic Strategies for Schizophrenia: Emerging Approaches Beyond Dopamine.

International journal of molecular sciences
2025

Dynamic Model of Serotonin Presynapse and Its Application to Suicide Attempt in Patients with Bipolar Disorder.

International journal of molecular sciences
2025

Evaluation of the Alterations in Central Cholinergic Neurotransmission in Aging and Amyloid Precursor Protein Knock-In Mice.

Journal of neurochemistry
2025

Human and rat ex vivo sweat glands for the observation of acetylcholine induced intracellular calcium signalling.

PloS one
2025

α7nAChR on B cells directs T cell differentiation to prevent viral myocarditis.

JCI insight
2025

Environmental Factors Exacerbate Parkinsonian Phenotypes in an Asian-Specific Knock-In LRRK2 Risk Variant in Mice.

International journal of molecular sciences
2025

[Research progress of the dopamine system in neurological diseases].

Sheng li xue bao : [Acta physiologica Sinica]
2025

Serotonin innervation of the subthalamic nucleus in parkinsonian monkeys.

Neurobiology of disease
2025

Structure and mechanism of human vesicular polyamine transporter.

Nature communications
2025

Neuroregulation of histamine of circadian rhythm disorder induced by chronic intermittent hypoxia.

European journal of pharmacology
2025

A comparative exploration of monoamine neurotransmitter transport disorders: mechanisms, clinical manifestations, and therapeutic approaches.

Journal of medicine and life
2025

Astaxanthin Mitigates ADHD Symptoms in Spontaneously Hypertensive Rats via Dopaminergic Modulation and Brain-Gut Axis Regulation.

Molecules (Basel, Switzerland)
2025

Lysosomal TPC2 channels disrupt Ca2+ entry and dopaminergic function in models of LRRK2-Parkinson's disease.

The Journal of cell biology
2025

Clonidine mitigates noise-induced hearing loss by regulating TRPC6-mediated calcium influx in cochlear hair cells.

Hearing research
2025

Anti-central fatigue effects of myelophil in 5-HTergic hyperactivity mice model.

BMC complementary medicine and therapies
2025

B 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 America
2025

Sex Steroid Control of Serotonergic System: Clinical Implications for Psychiatric Disorders and Addiction Treatment.

Clinical and experimental pharmacology & physiology
2025

Altered GABAergic Homeostasis in the Striatum of Dopamine Transporter Knockout Rats.

Current neuropharmacology
2025

Structures of the human adult muscle-type nicotinic receptor in resting and desensitized states.

Cell reports
2026

Abdominal Ultrasound Stimulation Alleviates Negative Symptoms Through Modulation of Serotonin Signaling and Gut Microbiota in the MK-801 Model of Schizophrenia.

Schizophrenia bulletin
2025

Neurotransmitter 5-HT Further Promotes LL-37-Induced Rosacea-like Inflammation Through HTR3A.

International journal of molecular sciences
2025

Past, present, and future of serotonin-targeting therapeutics for Alzheimer's disease: Perspectives from DNA methylation.

Ageing research reviews
2025

Abscisic 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 Pharmacology
2025

Tryptophan metabolism in migraine: a review of experimental and clinical studies and a need to enhance research strategies.

Reviews in the neurosciences
2025

Repurposing serotonergic drugs for gastric cancer: induction of apoptosis in vitro.

Molecular biology reports
2025

Design and validation of novel brain-penetrant HCN channel inhibitors to ameliorate social stress-induced susceptible phenotype.

Molecular psychiatry
2025

The selenocysteine-containing protein SELENOT maintains dopamine signaling in the midbrain to protect mice from hyperactivity disorder.

The EMBO journal
2025

Control of pili synthesis and putrescine homeostasis in Escherichia coli.

eLife
2025

Revisiting eye blink in Parkinson's disease.

Scientific reports
2025

Diallyl 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 chemistry
2025

Therapeutic Effects of Pharmacological Modulation of Serotonin Brain System in Human Patients and Animal Models of Fragile X Syndrome.

International journal of molecular sciences
2025

α-Conotoxin TxIB Reversed Nicotine-Induced Locomotor Sensitization and Nicotine-Enhanced Dopaminergic Activity in Mice.

Marine drugs
2025

Preclinical Profile of CM699 as a Medication Candidate for Stimulant Use Disorder.

ACS chemical neuroscience
2025

Exploring 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)
2025

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 neuroscience
2025

Enhancement of D1 dopaminergic responses in aged LRRK2 G2019S knock-in mice.

Neurobiology of disease
2025

Unveiling the potential abuse liability of α-D2PV: A novel α-carbon phenyl-substituted synthetic cathinone.

Neuropharmacology
2025

Alarmone ppGpp modulates bacterial motility, zeamine production, and virulence of Dickeya oryzae through the regulation of and cooperation with the putrescine signaling mechanism.

mSphere

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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. Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.
    Journal of inherited metabolic disease· 2026· PMID 41872043mais citado
  2. Synchronous activation of striatal cholinergic interneurons induces local serotonin release.
    Nature communications· 2026· PMID 41839847mais citado
  3. 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
  4. Chronic Histamine Exposure Promotes Melanogenesis via ORAI1-STIM1-Mediated Calcium Signaling Remodeling.
    International journal of molecular sciences· 2026· PMID 41752190mais citado
  5. Membrane Dysfunction as a Central Mechanism in LRRK2-Associated Parkinson's Disease: Comparative Analysis of G2019S and I1371V Variants.
    Cells· 2026· PMID 41744785mais citado
  6. Rhubarb enhances gastrointestinal motility via calcium-mediated intestinal acetylcholine release: a network pharmacology study.
    Sci Rep· 2026· PMID 41688541recente
  7. ATP13A2-Mediated Spermine Export Modulates Lipid Catabolism in the Endolysosomal System of SH-SY5Y Cells.
    Int J Mol Sci· 2026· PMID 41516358recente
  8. Impaired cardiac non-neuronal acetylcholine synthesis triggers mitochondrial dysfunction with the loss of nicotinic receptor-mediated calcium handling, causing the failing heart.
    Clin Sci (Lond)· 2025· PMID 41190780recente
  9. Molecular basis of vesicular monoamine transport and neurological drug interactions.
    Cell Rep· 2025· PMID 41166311recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:79214(Orphanet)
  2. MONDO:0019250(MONDO)
  3. GARD:18976(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. 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

Metabólica da neurotransmissão, anomalia
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Metabólica da neurotransmissão, anomalia

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