Um aminoácido essencial ou indispensável é um aminoácido que deve ser incluído na nossa alimentação para manter uma boa saúde. Considere os seguintes aminoácidos: fenilalanina, valina, treonina, triptofano, isoleucina, metionina, leucina, lisina e histidina.
Introdução
O que você precisa saber de cara
Doença rara do metabolismo da fenilalanina ou tirosina, caracterizada por um espectro de manifestações como extrofia da bexiga, raquitismo, aminoacidúria e comprometimento cognitivo. Afeta múltiplos genes, incluindo TH, TYR e HGD, resultando em fenótipos variados.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 118 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 304 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
11 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.
Catalyzes the conversion of homogentisate to maleylacetoacetate
Alkaptonuria
An autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis.
This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the initial and rate limiting step in the cascade of reactions leading to melanin production from tyrosine (By similarity). In addition to hydroxylating tyrosine to DOPA (3,4-dihydroxyphenylalanine), also catalyzes the oxidation of DOPA to DOPA-quinone, and possibly the oxidation of DHI (5,6-dihydroxyindole) to indole-5,6 quinone (PubMed:28661582)
Melanosome membraneMelanosome
Albinism, oculocutaneous, 1A
An autosomal recessive disorder in which the biosynthesis of melanin pigment is absent in skin, hair, and eyes. It is characterized by complete lack of tyrosinase activity due to production of an inactive enzyme. Patients present with a life-long absence of melanin pigment after birth, and manifest increased sensitivity to ultraviolet radiation with predisposition to skin cancer. Visual anomalies include decreased acuity, nystagmus, strabismus and photophobia.
Positively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVECs). May be involved in dopamine synthesis. May modify pain sensitivity and persistence. Isoform GCH-1 is the functional enzyme, the potential function of the enzymatically inactive isoforms remains unknown
CytoplasmNucleus
Hyperphenylalaninemia, BH4-deficient, B
A disease characterized by malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency, and defective neurotransmission due to depletion of the neurotransmitters dopamine and serotonin. The principal symptoms include: psychomotor retardation, tonicity disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing. Some patients may present a phenotype of intermediate severity between severe hyperphenylalaninemia and mild dystonia. In this intermediate phenotype, there is marked motor delay, but no intellectual disability and only minimal, if any, hyperphenylalaninemia.
Transaminase involved in tyrosine breakdown. Converts tyrosine to p-hydroxyphenylpyruvate. Can catalyze the reverse reaction, using glutamic acid, with 2-oxoglutarate as cosubstrate (in vitro). Has much lower affinity and transaminase activity towards phenylalanine
Tyrosinemia 2
An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and oculocutaneous manifestations. Typical features include palmoplantar keratosis, painful corneal ulcers, and intellectual disability.
Tyrosinemia 1
An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and hepatorenal manifestations. Typical features include hepatic necrosis, renal tubular injury, episodic weakness, self-mutilation, and seizures. Renal tubular dysfunction is associated with phosphate loss and hypophosphataemic rickets. Progressive liver disease can lead to the development of hepatocellular carcinoma. Dietary treatment with restriction of tyrosine and phenylalanine alleviates the rickets, but liver transplantation has so far been the only definite treatment.
Catalyzes the conversion of 4-hydroxyphenylpyruvic acid to homogentisic acid, one of the steps in tyrosine catabolism
CytoplasmEndoplasmic reticulum membraneGolgi apparatus membrane
Tyrosinemia 3
An autosomal recessive inborn error of metabolism characterized by high levels of tyrosine in the blood, massive excretion of its derivatives into urine, seizures and mild intellectual disability.
Catalyzes the final one or two reductions in tetra-hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin
Cytoplasm
Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency
A form of DOPA-responsive dystonia. In the majority of cases, patients manifest progressive psychomotor retardation, dystonia and spasticity. Cognitive anomalies are also often present. The disease is due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures.
Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine
Phenylalanine hydroxylase deficiency
An autosomal recessive inborn error of phenylalanine metabolism characterized by intolerance to dietary intake of the essential amino acid phenylalanine. The disease spectrum depends on the degree of PAH deficiency and the phenylalanine levels in plasma. Severe deficiency causes classic phenylketonuria (PKU) that is characterized by plasma concentrations of phenylalanine persistently above 1200 umol/L. PKU patients develop profound and irreversible intellectual disability, unless low phenylalanine diet is introduced early in life. They tend to have light pigmentation, rashes similar to eczema, epilepsy, extreme hyperactivity, psychotic states and an unpleasant 'mousy' odor. Less severe forms of PAH deficiency are characterized by phenylalanine levels above normal (120 umol/L) but below 1200 umol/L and include moderate PKU, mild PKU, non-PKU hyperphenylalaninemia (non-PKU HPA) and mild hyperphenylalaninemia. Individuals with PAH deficiency who have plasma phenylalanine concentrations consistently below 600 umol/L on an unrestricted diet are not at higher risk of developing intellectual, neurologic, and neuropsychological impairment than are individuals without PAH deficiency.
Catalyzes the conversion of quinonoid dihydrobiopterin into tetrahydrobiopterin
Hyperphenylalaninemia, BH4-deficient, C
Rare autosomal recessive disorder characterized by hyperphenylalaninemia and severe neurologic symptoms (malignant hyperphenylalaninemia) including axial hypotonia and truncal hypertonia, abnormal thermogenesis, and microcephaly. These signs are attributable to depletion of the neurotransmitters dopamine and serotonin, whose syntheses are controlled by tryptophan and tyrosine hydroxylases that use BH-4 as cofactor. Patients do not respond to phenylalanine-restricted diet. HPABH4C is lethal if untreated.
Medicamentos e terapias
Mecanismo: 4-hydroxyphenylpyruvate dioxygenase inhibitor
Mecanismo: Phenylalanine-4-hydroxylase activator
Mecanismo: Phenylalanine-4-hydroxylase activator
Variantes genéticas (ClinVar)
1,540 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
14 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 — Doença do metabolismo da fenilalanina ou tirosina
Centros de Referência SUS
21 centros habilitados pelo SUS para Doença do metabolismo da fenilalanina ou tirosina
Centros para Doença do metabolismo da fenilalanina ou tirosina
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
NUPAD / Faculdade de Medicina UFMG
Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital de Clínicas da Universidade Federal de Pernambuco
Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital Universitário Onofre Lopes (HUOL)
Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570
Atenção Especializada
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
Instituto da Criança e do Adolescente (ICr-HCFMUSP)
Av. Dr. Enéas Carvalho de Aguiar, 647 - Cerqueira César, São Paulo - SP, 05403-000 · CNES 2081695
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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.
A deficiência de Tirosina Hidroxilase (THD) é uma doença genética rara que causa a diminuição da produção de dopamina, resultando em sintomas como distonia e parkinsonismo infantil, com resposta variável à L-Dopa. Este estudo revela que a redução da enzima TH no cérebro não se deve à degeneração neuronal, mas sim a um transporte defeituoso da proteína TH dentro dos neurônios. Essa falha de transporte desorganiza circuitos cerebrais importantes, mas o cérebro desenvolve plasticidade compensatória sem que haja morte de neurônios, o que é crucial para o prognóstico e futuras estratégias terapêuticas.
🇧🇷 traduzidoOseltamivir aziridines are potent influenza neuraminidase inhibitors and imaging agents.
Este artigo descreve uma nova classe de compostos, as oseltamivir aziridinas, que visam superar as limitações dos tratamentos atuais para a gripe, como a resistência. Estes novos inibidores atuam de forma mais potente e permanente, ligando-se covalentemente à neuraminidase do vírus da influenza, tornando-os eficazes contra diversas estirpes, incluindo a H5N1. Para pacientes e médicos, representam uma promissora ferramenta com duplo potencial: tanto como tratamento mais eficaz para a gripe quanto como agentes de imagem para diagnóstico e monitoramento da infecção. *(Nota: O artigo fornecido trata sobre o metabolismo do vírus da influenza, não sobre distúrbios do metabolismo da fenilalanina ou tirosina, apesar da menção no prompt inicial. O resumo foi focado no conteúdo do artigo sobre influenza.)*
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Este estudo científico identificou a proteína SIK2 como um modulador crucial da inflamação na psoríase. Foi demonstrado que o aumento da SIK2 reduz a gravidade da doença e a secreção de citocinas inflamatórias (como IL-23) em neutrófilos, através de sua interação com a proteína CXCL5. Esses achados posicionam a SIK2 como um alvo terapêutico promissor para futuras abordagens no tratamento da psoríase.
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🇧🇷 traduzidoMolecular and cellular consequences of tumour-autonomous IL-6 signalling in intrahepatic cholangiocarcinoma.
O título fornecido ("Disorder of phenylalanine or tyrosine metabolism") não corresponde ao conteúdo do resumo, que trata de colangiocarcinoma intra-hepático (iCCA) e sinalização de IL-6. O resumo abaixo é baseado exclusivamente no conteúdo do texto fornecido sobre iCCA. Neste estudo sobre colangiocarcinoma intra-hepático (iCCA), onde altos níveis de IL-6 predizem mau prognóstico, descobriu-se que as próprias células tumorais produzem autonomamente IL-6. Essa sinalização crônica de IL-6 impulsiona programas genéticos e metabólicos distintos, tornando as células tumorais sensíveis à inibição de NAMPT, uma nova vulnerabilidade terapêutica que também reduz a IL-6. Além disso, a IL-6 altera o microambiente tumoral, suprimindo funções imunes essenciais e promovendo a comunicação com células que favorecem o câncer, revelando múltiplos mecanismos para a progressão da doença e potenciais alvos para tratamento.
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Phytomedicine : international journal of phytotherapy and phytopharmacologyResearch progress of PTP1B inhibitors and degraders.
European journal of medicinal chemistryReal-world effectiveness of palbociclib in combination with an aromatase inhibitor in HR+/HER2- bone-only metastatic breast cancer.
Breast (Edinburgh, Scotland)Harpin Ea protein confers top rot resistance in Rosa roxburghii Tratt. through synergistic activation of structural defenses and the phenylpropanoid-flavonoid pathway.
Pest management scienceGenotype-Dependent Effects of Silicon on Cell Wall Composition and Antioxidant Responses in Oats Under Nitrogen Deficiency.
Plants (Basel, Switzerland)Angiogenic Imbalance in Preeclampsia: Profiling VEGF A, sFlt1, PlGF, and sFlt1/PlGF Ratios.
International journal of molecular sciencesHeterogeneity of Hormone Receptors and HER2 in Breast Cancer Cutaneous Metastases: An Institutional Experience.
International journal of molecular sciencesZebrafish PRL-3 Regulates Yolk Syncytial Layer Integrity and Actomyosin Contractility During Epiboly.
International journal of molecular sciencesHER2 Alterations in Non-Small Cell Lung Cancer: Emerging Perspectives on the Therapeutic Landscape.
International journal of molecular sciencesOut of Nucleus: Serine 727 Phosphorylation Orchestrates Non-Canonical STAT3 Functions-Relevance to Triple-Negative Breast Cancer.
International journal of molecular sciencesDeletion of TRPA1 Ion Channel Modulates the Central Stress Responses in a Mouse Model of Posttraumatic Stress Disorder.
CellsRedox-primed biocontrol application reshapes Fusarium wilt resistance and metal homeostasis in tomato under arid conditions.
BMC plant biologyBeyond numbers: rethinking human milk fortification in preterm nutrition.
Pediatric researchNintedanib Lacks Efficacy in a Spirometry-Confirmed and Bleomycin-Induced Mouse Model of Idiopathic Pulmonary Fibrosis.
Basic & clinical pharmacology & toxicologyBlood Based Biomarkers for Predicting Treatment Response to Immune Checkpoint Inhibitors After EGFR-TKI Resistance in Non-Small Cell Lung Cancer.
Thoracic cancerMultidisciplinary therapy managements in endometrial and renal cancer patients treated with pembrolizumab and lenvatinib: a virtuous circle between oncologists and organ specialists.
Critical reviews in oncology/hematologyRosa roxburghii Tratt. enhances fracture healing through multitarget regulation of osteogenesis and angiogenesis: Integrated network pharmacology and molecular docking analysis.
MedicineMolecular imaging of tucatinib-induced cellular and TME changes in preclinical models of HER2 + breast cancer.
Breast cancer research and treatment[New ways in interdisciplinarity: internal medicine meets human genetics : When frequent conditions become rare and rare conditions become frequent].
Innere Medizin (Heidelberg, Germany)Evaluation of RC48-ADC in Combination with PRaG Regimen: An Open-Label, Prospective, Multicentre Study Assessing Efficacy and Safety for Advanced Refractory HER2-Expressing Solid Tumors (PRaG3.0 Study Protocol).
Technology in cancer research & treatmentNovel Deiodinase 2-Selective Inhibitors-Possible Reference Substances for Regulatory In Vitro Tests for Endocrine Disruptors and Drugs Targeting T3-Dependent Processes.
Thyroid : official journal of the American Thyroid AssociationPerioperative EGFR-Targeted Therapy in Resectable EGFR-Mutated NSCLC: A Narrative Review from Drug Design to Pain-Informed MRD-Guided Care.
Drug design, development and therapyNatural products as kinase inhibitors in lung cancer: molecular mechanisms, therapeutic potential, and clinical trials.
Frontiers in pharmacologyMelanin pigments protect nucleic acid integrity.
Journal of the Royal Society, InterfaceEffects of L-Tyrosine Ingestion on Endurance Performance in Mentally Fatigued Cyclists.
European journal of sport scienceTargeting the Hippo pathway in pulmonary arterial hypertension: emerging pharmacological strategies.
Journal of hypertensionClinicopathological Spectrum and Biomarker Profile of Male Breast Cancer: A Retrospective Study from a Tertiary Care Center in South India.
The Journal of the Association of Physicians of IndiaDopaminergic Modulation of Striatal Somatostatin Interneurons Shapes Motor Learning and L-DOPA-Induced Dyskinesia.
Molecular neurobiologyOverexpression of S100 Calcium-Binding Protein A2 is Associated With Poor Prognosis in Hepatocellular Carcinoma.
Cancer control : journal of the Moffitt Cancer CenterSerum Metabolomic Signature of Gliomas in an Indian Cohort: Identification of Grade-Specific Alterations and Potential Biomarkers.
Neurology IndiaNIPAL1 Drives a Metabolic-Epigenetic Feedback Loop to Promote Lactate-Mediated Immune Evasion in Esophageal Cancer.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Advancing Targeted Protein Degradation Through Immunoproteasome-Caged N-Degrons.
Chembiochem : a European journal of chemical biologyIntegrated transcriptome and metabolome analysis reveals the molecular mechanism underlying differences in Psa resistance between Actinidia valvata and Actinidia chinensis.
Frontiers in plant scienceTranscriptomic Analysis and Biocontrol Potential of Bacillus velezensis T25 against Fusarium Wilt of Banana.
Plant disease[Analgesic mechanism of Entadae Semen based on its in vivo material basis and regulation of SRC-mediated microglial polarization in a rat model of chronic compression of dorsal root ganglion].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica[Efficacy comparison of Atractylodis Macrocephalae Rhizoma with different growth years in treatment of slow transit constipation and its mechanism].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica[Two new acyclic terpenoids from Croci Stigma].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica[Panax notoginseng saponins mediated inhibition of human aortic valve interstitial cell calcification via SYK/NF-κB pathway].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica[Baihe Dihuang Decoction attenuates hippocampal neuronal injury in anxious depression by inhibiting SHP2].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medicaTumour specific HORMAD1 expression perturbs mitotic arrest and drives sensitivity to mitotic kinase inhibitors.
Nature communicationsPredictors of Pathologically Negative Sentinel Lymph Nodes and Recurrence-Free Survival in Women with Invasive Breast Cancer Treated with Neoadjuvant Chemotherapy.
Journal of Nippon Medical School = Nippon Ika Daigaku zasshiBrain lipidomics identifies mitochondrial redox dysfunction and metabolic trade-offs associated with Parkinson's disease-like pathology induced by Nanoplastics exposure.
Free radical biology & medicineRevealing the transcriptional profile of fish muscle cells in vitro and in vivo: Insights to improve fish muscle culture.
Comparative biochemistry and physiology. Part D, Genomics & proteomicsNFIC suppressed the development of Glioma via modulating the balance of SHP2/PI3K and NF-κB/PTEN Signaling.
PloS oneThe Traditional Chinese Medicine Compound Hezi Qingyou Formula Controls the MAPK Signaling Pathway for Alleviating Gastric Ulcer Induced by Acetic Acid in Rats.
Journal of immunology researchLnc-CHRM4-2:1 Inhibits M2 Polarization and Efferocytosis of Macrophages by Downregulating MerTK and SLC2A1 in Rheumatoid Arthritis.
Journal of immunology research[Linking tetrahydrobiopterin depletion to ferroptosis: A novel mechanism of neurological injury in Hyperphenylalaninemia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsTissue-level Consequences of Segmental Abnormalities in Hirudo verbana: A Morphological and Histological Approach.
Turkiye parazitolojii dergisiCurrent evidence on non-surgical therapies for Dupuytren's disease: A clinical review.
Journal of hand and microsurgerySlipping Through the Chasm of Multicenter Hand-offs-Rare Incidence of Nintedanib Induced Renal Failure: Case Report.
Journal of community hospital internal medicine perspectivesPKC-iota drives EGFR-TKI resistance in EGFR-mutated NSCLC by phosphorylating FASN to reprogram lipid metabolism.
Translational lung cancer researchPatient-reported outcomes in NRG Oncology RTOG 1010: Phase 3 trial evaluating the addition of trastuzumab to trimodality treatment of HER2 overexpressing esophageal adenocarcinoma.
CancerStrain-specific effects of lactic acid bacteria on rambutan juice fermentation: Insights from physicochemical, volatile, and non-volatile profiles.
Food chemistryALK-positive, EBV-positive Large B-cell lymphoma in an HIV patient: a diagnostic pitfall mimicking plasmablastic lymphoma.
Journal of hematopathologyTargeted Profiling of Tryptophan- and Tyrosine-Derived Metabolites in Traditionally Fermented Foods.
Plant foods for human nutrition (Dordrecht, Netherlands)Nup107 is a crucial regulator of torso-mediated metamorphic transition in Drosophila melanogaster.
eLifeCeritinib Induces Mitochondrial Fragmentation in Thyroid Cancer Cells by Targeting Drp-1.
Drug development researchEngineering glyphosate tolerance in sugarcane through overexpression of a mutated version of its native EPSPS gene.
GM crops & foodHuman IDO2 exhibits unique binding affinities distinct to those of human IDO1.
The FEBS journalImmunosuppressive Tumor Microenvironment and Therapeutic Landscape of Diffuse Intrinsic Pontine Glioma.
Medicinal research reviewsTargeted therapy for ALK-positive histiocytosis masquerading as optic nerve tumor: a case report.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryThe Innovative Multi-Marker Selection System Based on Tyrosine Synthesis Pathway for Monoclonal Antibody Expression in CHO Cells.
Biotechnology and bioengineeringIdentification and characterization of a wet adhesive protein extracted from Dreissena bugensis, the freshwater quagga mussel.
Proceedings of the National Academy of Sciences of the United States of AmericaCardiotoxic Effects of Osimertinib Compared to Other EGFR Inhibitors: A Systematic Review and Meta-Analysis.
Cardiovascular toxicologyEffects of Music Therapy Combined with Hospital-Community Integrated Care on the Psychological Status of Patients with Parkinson's Disease Treated with Pramipexole and Levodopa.
Noise & healthPTPN1 Regulation via YBX1-PTBP1 Interaction Promotes Fibroblast Activation and Fibrotic Remodeling in the Lung.
International journal of biological sciencesSmall metabolites vary in sow milk across the course of lactation, while moringa supplementation and cooling sows exposed to heat stress conditions have limited effects.
Translational animal scienceAmenability of the Gatekeeper Enzyme HphA to Engineering in the Homologation Pathway of l‑Phenylalanine and l‑Tyrosine through Homology-Based Site-Directed Mutagenesis.
ACS omegaCritique of phase II agents for non-small cell lung cancer: what is our clinical need and which agents have potential?
Expert opinion on investigational drugsHigh-throughput screened kaempferitrin potentiates trastuzumab efficacy in HER2-positive gastric cancer by targeting Cyclooxygenase-2 to inhibit ERK signaling.
Phytomedicine : international journal of phytotherapy and phytopharmacologyThe H2S donor sulforaphane inhibits NLRP3 inflammasome activation by inducing mitochondrial autophagy and mitigating CBS-H2S axis damage in in-vitro and in-vivo models of Parkinson's disease.
Bioorganic chemistry[Correlation of STAT6 and HER2-low expression with clinicopathological features and prognosis in triple negative breast cancer].
Zhonghua bing li xue za zhi = Chinese journal of pathology[FGFR1 mRNA expression in different molecular subtypes of breast cancer].
Zhonghua bing li xue za zhi = Chinese journal of pathologyS(-II) enhances Cd adsorption to release 2,3-dihydroxybenzoylserine and alleviate Fe(III)-induced ROS in high-siderophore-yielding bacteria.
Journal of hazardous materialsA bis-phosphorylated peptide wrangles the SHP2 tandem SH2 domains into shape.
Structure (London, England : 1993)High-density branched α-amylase hydrolyzates from α-glucans exhibit distinct glucose and appetite-regulatory functions in vivo.
Food research international (Ottawa, Ont.)Functional evaluation of a Staphylococcus vitulinus protease: Biochemical properties, structural adaptation, and application in myofibrillar proteins.
Food research international (Ottawa, Ont.)Effect of solid-state fermentation on protein content, amino acid digestibility and anti-nutritional components of common beans, lentils and chickpeas.
Food research international (Ottawa, Ont.)Hepatoprotective potential of anthocyanins from purple highland barley bran against non-alcoholic fatty liver disease through gut-liver axis.
Food research international (Ottawa, Ont.)Dose- and sex-related effects of the MAGL inhibitor MCH11 on binge-like ethanol consumption in mice.
NeuropharmacologyBupleurum chinense DC. ameliorates depression through hepatic lipopolysaccharide-binding protein-associated inflammation and monoamine biosynthesis.
Journal of ethnopharmacologyQM/MM study of the catalytic reaction of potato epoxide hydrolase.
International journal of biological macromoleculesDual Stress Postischemia Deprivation Depression via Metabolic Disturbance in Rodents.
The Journal of surgical researchDifferential Clinical Outcomes of Palliative Radiotherapy among Different Molecular Subtypes of Metastatic Breast Cancer: A Prospective Study.
Asian Pacific journal of cancer prevention : APJCPPertuzumab and Pathological Complete Response in Early HER2+ Breast Cancer: A Systematic Review and Meta-analysis of Real-World Studies.
Asian Pacific journal of cancer prevention : APJCPIntegrative metabolomics and network pharmacology reveal the antifibrotic mechanisms of Gurigumu-13 in a rat model of hepatic fibrosis.
Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of MexicoImpact of sulfamethoxazole, trimethoprim, diclofenac, carbamazepine, and their mixture on the metabolism of Lemna minor: a targeted metabonomic study.
Metabolomics : Official journal of the Metabolomic SocietyMetabolomic profiling in phenylketonuria: a systematic review of human studies.
Metabolomics : Official journal of the Metabolomic SocietyA novel triaptosis-related prognostic signature to assess the clinical value in HER2-low breast cancer: evidence from clinical cohorts and experimental validation.
Apoptosis : an international journal on programmed cell deathThe clinical value of [18F]-fluoro-ethyl-L-tyrosine PET ([18F]FET-PET) correlated with MRI in patients with functioning pituitary adenomas: an observational cohort study.
PituitaryDDR2 ameliorates nonalcoholic hepatic steatosis by activating the AMPK/ACC pathway.
Scientific reportsTargeting tRNA-dependent tyrosine usage unveils a metabolic vulnerability in hepatocellular carcinoma.
Nature communicationsMolecular and Epidemiological Insights into Oral Squamous Cell Carcinoma: Biomarker Profiling for Prognostic and Therapeutic Advancements.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPET-1-induced CTGF expression is mediated by STAT3 activation through casein kinase 2α' and p300 but not casein kinase 2α in human lung fibroblasts.
European journal of pharmacologyInteractions and communications in hepatocellular carcinoma: Potential targets for chemo/radiosensitization.
Pathology, research and practiceAnalysis of Large Language Model Decision Making in Hormone Receptor-Positive/Human Epidermal Growth Factor Receptor 2-Negative Early Breast Cancer.
JCO clinical cancer informaticsThe causal relationship and metabolic mediation between telomere length and intervertebral disc degeneration: A two-stage network Mendelian randomization study.
MedicineThe expression of tyrosine kinase and threonine promotes the progression of lung adenocarcinoma and is linked to a negative prognosis.
MedicineSimultaneous quantification of lifitegrast and Rebamipide in hydrogel-based contact lenses using spectroscopic method.
International ophthalmologyIL‑6: A key player in the EGFR‑TKI‑resistant tumor microenvironment and its therapeutic implications (Review).
International journal of oncologyFramework-mediated binding of foreign and self-glycans by IGHV4-34 antibodies.
Frontiers in immunologyTailoring low-dose aspirin to prevent preeclampsia: translational and biomarker insights.
Frontiers in medicineSex and Diet Biased Effect of L-DOPA on Iron Accumulation in the Ventral Midbrain.
Journal of neurochemistryStructure-Activity Studies of a Novel Opioid Cyclic Hexapeptide Modified at Gly3: Identification of Highly Potent Agonists or Antagonists of Opioid Receptors.
Journal of medicinal chemistryMatrix micro/nano-topography drives oncogenic signaling and drug response in a 3D osteosarcoma model.
Journal of nanobiotechnologyA gut microbiome-kidney-heart axis predictive of future cardiovascular diseases.
Nature communications[Exploring the therapeutic targets and molecular mechanisms of pimecrolimus in the treatment of oral lichen planus based on network pharmacology, machine learning, and molecular docking].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatologyAptamer-Mediated Proximity Labeling (ApMPL) for Spatially Resolved Deciphering of Cell Membrane Protein Interactomes.
Analytical chemistrySrc-family kinase control of CAR signaling: the paradoxical and multifaceted role of LCK.
Immunology lettersPercutaneous hepatic perfusion combined with ipilimumab and nivolumab for metastatic uveal melanoma (CHOPIN): a single-centre, open-label, randomised, phase 2 trial.
The Lancet. OncologyAntigen-induced IL-12 potentiates piggyBac-engineered HER2-CAR-T cells against gastric cancer.
International immunopharmacologyBiocontrol potential and mechanism of endophytic Bacillus velezensis WSR1 against rubber tree anthracnose.
Plant diseaseConformation-Sensitive Active-Site Residue Tyrosine 260 in Paenibacillus macerans Cyclodextrin Glycosyltransferase Governs C13-Regioselective Glycosylation of Rebaudioside A.
Journal of agricultural and food chemistryCharacterization of the TREM-1 signaling landscape in human neutrophils.
PloS oneMetabolic and behavioral effects of neurofibromin result from differential recruitment of MAPK and mTOR signaling.
PLoS geneticsNivolumab plus ipilimumab for hepatocellular carcinoma: a game-changer?
Expert opinion on biological therapyNintedanib enhances the antitumor efficacy of pd-1 blockade, potentially through inhibition of myeloid-derived suppressor cells and cancer-associated fibroblasts.
Cancer immunology, immunotherapy : CIIHistidine and tyrosine residues are targets for SIRT6 ADP-ribosylation activity.
Open biologyMislocalisation of FLT3-ITD receptor contributes to MV4-11 leukaemia cell resistance to antibody-drug conjugate.
Journal of enzyme inhibition and medicinal chemistryEarly-life adversity induces metabolic alterations in a rodent model of depression: a differential stress response perspective.
Acta neuropsychiatricaCase Report: Glofitamab in the treatment of a patient with central nervous system-involved Burkitt lymphoma.
Frontiers in oncologyStratified signaling network remodeling of kinase-transcription factors' interactions in Parkinson's disease.
Bioinformatics advancesAdvanced Parkinson's disease treatment patterns in Italy: results from a multicenter observational study.
Annals of medicineA Phase I Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of Fenebrutinib and Effect on the QT/QTc Interval in Healthy Participants.
Clinical and translational scienceAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.
- Oseltamivir aziridines are potent influenza neuraminidase inhibitors and imaging agents.Proceedings of the National Academy of Sciences of the United States of America· 2026· PMID 41871250mais citado
- Exploring SIK2-CXCL5 interactions in neutrophils: A novel mechanism for modulating IL-23 and psoriasis progression.
- Python metabolomics uncovers a conserved postprandial metabolite and gut-brain feeding pathway.
- Molecular and cellular consequences of tumour-autonomous IL-6 signalling in intrahepatic cholangiocarcinoma.
- In silico designing of palbociclib loaded PLGA long-acting intramuscular injection for palliative therapy of HR+/HER2- metastatic breast cancer.
- Lipid-Engineered Small-Sized Metal-Organic Frameworks for Targeted Delivery of Anlotinib in Lung Cancer Treatment.
- The ammonia transporter gene family and its immune regulatory role in the Pacific oyster (Crassostrea gigas).
- Micro-nanoplastics induce the physiological toxicity and metabolic disorder of Bacillus cereus DFH-1.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:79190(Orphanet)
- MONDO:0019235(MONDO)
- GARD:18964(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Q55788556(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