Doença metabólica hereditária que tem como base a interrupção do processo metabólico da prolina.
Introdução
O que você precisa saber de cara
Doença metabólica hereditária que tem como base a interrupção do processo metabólico da prolina.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 136 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 364 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
7 genes identificados com associação a esta condição.
Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine
MitochondrionMitochondrion matrix
Cutis laxa, autosomal recessive, 3A
A syndrome characterized by facial dysmorphism with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit, developmental delay, and ophthalmologic abnormalities.
Oxidoreductase that catalyzes the last step in proline biosynthesis, which corresponds to the reduction of pyrroline-5-carboxylate to L-proline using NAD(P)H (PubMed:16730026, PubMed:19648921, PubMed:23024808, PubMed:28258219). At physiologic concentrations, has higher specific activity in the presence of NADH (PubMed:16730026, PubMed:23024808). Involved in the cellular response to oxidative stress (PubMed:16730026, PubMed:19648921)
Mitochondrion
Cutis laxa, autosomal recessive, 2B
A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Patients do not manifest metabolic abnormalities.
Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:32001091, PubMed:33065002). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (PubMed:32001091)
Apical cell membraneCytoplasmic vesicle, secretory vesicle, synaptic vesicle membraneCytoplasmic vesicle, clathrin-coated vesicle membrane
Cutis laxa, autosomal recessive, 2C
A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. Most ARCL2C patients exhibit severe hypotonia as well as cardiovascular involvement.
Converts proline to delta-1-pyrroline-5-carboxylate
Mitochondrion matrix
Hyperprolinemia 1
An inborn error of proline metabolism resulting in elevated levels of proline in the plasma and urine. The disorder is generally benign and most affected individuals are clinically asymptomatic. Some patients, however, have neurologic manifestations, including epilepsy and intellectual disability. Association with certain forms of schizophrenia have been reported.
Irreversible conversion of delta-1-pyrroline-5-carboxylate (P5C), derived either from proline or ornithine, to glutamate. This is a necessary step in the pathway interconnecting the urea and tricarboxylic acid cycles. The preferred substrate is glutamic gamma-semialdehyde, other substrates include succinic, glutaric and adipic semialdehydes
Mitochondrion matrix
Hyperprolinemia 2
An inborn error of proline metabolism resulting in elevated plasma levels of proline and delta-1-pyrroline-5-carboxylate (P5C). The condition is considered to be benign, but affected individuals can exhibit neurological manifestations that vary in severity. Clinical signs include seizures, intellectual deficit and mild developmental delay.
Catalytic subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:8463241). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (PubMed:32001091). In aerobic conditions, invol
CytoplasmCytoplasm, cytosolCytoplasmic vesicle, secretory vesicleCytoplasmic vesicle, clathrin-coated vesicle membraneLysosome
Cutis laxa, autosomal recessive, 2D
A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. Most ARCL2D patients exhibit severe hypotonia as well as cardiovascular and neurologic involvement.
Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (By similarity). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (By similarity). Essential component of the endosomal pH-s
Cell membraneEndosome membrane
Cutis laxa, autosomal recessive, 2A
A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Some affected individuals develop seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. At the molecular level, an abnormal glycosylation of serum proteins is observed in many cases.
Variantes genéticas (ClinVar)
412 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
10 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 prolina
Centros de Referência SUS
21 centros habilitados pelo SUS para Doença do metabolismo da prolina
Centros para Doença do metabolismo da prolina
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
NUPAD / Faculdade de Medicina UFMG
Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital de Clínicas da Universidade Federal de Pernambuco
Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital Universitário Onofre Lopes (HUOL)
Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570
Atenção Especializada
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
Instituto da Criança e do Adolescente (ICr-HCFMUSP)
Av. Dr. Enéas Carvalho de Aguiar, 647 - Cerqueira César, São Paulo - SP, 05403-000 · CNES 2081695
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Journal of cachexia, sarcopenia and muscle<p>Prolyl hydroxylase domain proteins: Localization, regulation, function and their role in erythropoiesis (Review)</p>.
Molecular medicine reportsEffect of the ACE inhibitor Zofenopril on the Oxidative Status of the Eye in Animals with Experimental Glaucoma.
Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnostiVasoactive Effects of Chronic Treatment with ACE Inhibitor Zofenopril in Zucker Obese Diabetic Rats: The Role of Nitroso and Sul?de Signalization.
Physiological researchTargeting SPAK suppresses progression and averts an immune exhaustive microenvironment in hepatocellular carcinoma.
Nature communicationsNitrilotriacetic acid functionalized gold nanopillars enable stochastic detection and deep learning analysis of prolines and hydroxyprolines by surface enhanced Raman spectroscopy.
NanoscaleTranscriptomic signature-guided depletion of intermediate alveolar epithelial cells ameliorates pulmonary fibrosis in mice.
Nature communicationsMolecular basis and cellular effects of Janus-class-driven cytoplasmic PYK2 coacervates.
Communications biologyA mouse model of a patient derived P544L mutation in the Slc6a8 gene shows hypoactivity and cognitive deficits.
Brain researchInvestigating causal associations between serum metabolites and cataract by Mendelian randomization.
MedicineExecutive Summary of the KDIGO 2026 Clinical Practice Guideline for the Management of Anemia in Chronic Kidney Disease (CKD).
Kidney internationalSocioeconomic Differences in Nutrient Intake, Metabolite Profiles, and Blood Pressure: The African-PREDICT Study.
The Journal of nutritionQi-Fu-Yin ameliorates physiological frailty in male 5xFAD mice through remodeling the gut microbiota and modulating the cerebral cortex metabolism.
Frontiers in aging neuroscienceThe metabolomic profile of psoriatic arthritis patients unveils the unbalance of disease-related molecules and pathways.
Scientific reportsDevelopment of the fluorescence polarization-based competition assay for the E3 ligase GID4.
Bioorganic & medicinal chemistry lettersRhizosphere-derived Stutzerimonas stutzeri AUMC B-503: a promising biocontrol and plant growth-promoting strain for managing brown spot disease in rice (Oryza sativa).
Frontiers in plant scienceEffect of IFN-τ on intestinal flora and metabolomics of Escherichia coli-mediated endometritis in mice.
Frontiers in microbiologyNDRG1-HIF1α interaction in hypoxic signaling for pulmonary hypertension.
International journal of biological macromoleculesGut microbiota combined with metabolomics approach to investigate the processing-based detoxification mechanism of processed cream of Croton tiglium L. seeds.
FitoterapiaThe effect of Tannic acid on colonic anastomosis in abdominal sepsis: An experimental study.
PloS oneFirst exposure to second-generation antipsychotics alters gut microbiota and metabolic profiles in patients with glucose-lipid metabolism disorders.
Frontiers in psychiatryCross-species analysis of FcγRIIa/b (CD32a/b) polymorphisms at position 131: structural and functional insights into the mechanism of IgG- mediated phagocytosis in human and macaque.
Frontiers in immunologyComparison of gastric mucosa microbiota in metabolically healthy and unhealthy obesity.
Diabetology & metabolic syndromeRoxadustat induces erythroid differentiation of erythroleukemia cells through the hypoxia inducible factor-α/GATA binding protein 1 axis.
Cellular signallingAntiviral potential of crude extracts from two Streptomyces spp. against Cucumber Mosaic Virus infection under greenhouse conditions.
Scientific reportsLocalization of mutant huntingtin with HTT Exon1 P90 C-terminal neoepitope antibodies in relation to regional and neuronal vulnerability in forebrain in Q175 mice and human huntington's disease.
Journal of Huntington's diseaseAn interpretable metabolomic-driven machine learning model for early prediction of knee structural OA progression.
Rheumatology (Oxford, England)Metabolomic Changes After Bariatric Surgery Adjusted for Glomerular Filtration Rate Suggest Mechanisms of Kidney Protection.
Obesity (Silver Spring, Md.)Plasma untargeted metabolomics reveals the metabolic landscape of NKTCL and aids in liquid biopsy for disease detection.
European journal of medical researchEffects of alendronate and vitamin D on plasma metabolomic profiles in a rat model of osteoporosis.
Journal of pharmacological and toxicological methodsChronotype, serum metabolome, and nonalcoholic fatty liver disease in middle-aged and older adults: Association and potential mediation analyses.
Experimental gerontologyGut microbiome-metabolome dysregulation in systemic sclerosis: a multi-omics study.
Rheumatology (Oxford, England)Endothelial Dysfunction Contributes to Chondrocyte Senescence Associated With Insulin-Like Growth Factor-Binding Protein-6 in a Spontaneously Hypertensive Rat Model.
Journal of the American Heart AssociationSerum Metabolomic Signatures of Dyslipidemia in Narcolepsy Type 1: A Multi-Center Cross-Sectional Study.
Nature and science of sleepBifidobacterium animalis subsp. lactis Bbm-19 ameliorates insomnia by remodeling the gut microbiota and restoring γ-aminobutyric acid and serotonin signaling.
Food & functionEpitope-specific antibodies can distinguish between soluble huntingtin exon-1 and its diverse cellular aggregates.
The Journal of biological chemistryLevan induced the resistance of tomato against Botrytis cinerea and pepper against Phytophthora capsici.
International journal of biological macromoleculesBrusatol inhibits gastric cancer by targeting P4HA2 and supressing glycolysis-driven histone lactylation.
Phytomedicine : international journal of phytotherapy and phytopharmacologySerum Metabolites and Heart Failure Risk: MESA and RS.
Journal of the American Heart AssociationMetabolic Predictors of CAD: Focus on Cystine, Methionine, Proline, and Threonine Circulating Levels-Exploratory Pilot Study.
Journal of clinical medicineIntegrated multi-omics reveals terpenoid-driven metabolic and transcriptional regulation underlying sweetpotato resistance to black rot disease.
BMC plant biologyIntegrated salivary microbiome and metabolome profiling reveals ecological and functional alterations in severe early childhood caries.
Journal of translational medicineIron status mediates the causal effects of high-altitude adaptation signals in the HIF-PHD axis on pulmonary vascular and right-heart outcomes.
Clinical and experimental hypertension (New York, N.Y. : 1993)The effect of SGLT2 inhibitor and HIF-PHI on the podocyte-specific molecules and cytoskeleton of diabetic podocytes.
BMC nephrologyDysregulation of argininosuccinate synthase 1, phosphoenolpyruvate carboxykinase 1, and carbonyl reductase 3: Key arginine-proline metabolic mediators in mesangioproliferative glomerulopathies.
International journal of biological macromoleculesAmyloid-motif-dependent tau self-assembly is modulated by isoform sequence context.
Structure (London, England : 1993)Probing tau citrullination in Alzheimer's disease brains and mouse models of tauopathy.
Acta neuropathologicaThe dihydropyridine LA1011 modulates multiple Hsp90-co-chaperone interactions relevant to Alzheimer's disease.
Cell stress & chaperonesStructural insights into AVR-Rmg8 recognition mechanisms by the wheat blast resistance gene Rmg8.
Scientific reportsComparative effectiveness of hypoxia-inducible factor prolyl hydroxylase inhibitors versus erythropoiesis-stimulating agents on prognosis in non-dialysis chronic kidney disease: a propensity-matched cohort study.
Renal failureOxidative hypoxia drives TGF-β1-induced fibrosis under normoxia.
Redox biologyPlasma amino acid profile in obese children, adolescents, and adults: similarities or differences - a narrative review.
Endokrynologia PolskaA Thin Film Micro-Extraction Based Salivary Metabolomics and Chemometric Strategy for Rapid Lung Cancer Diagnosis.
Thoracic research and practiceIntegrated metagenome and metabolome analysis reveals a disease signature of gut microbiota and the key gut microbiota-associated metabolite proline in schizophrenia.
Journal of psychiatric researchA fly model of SCA36 reveals combinatorial neurotoxicity of hexanucleotide and dipeptide repeats.
PLoS geneticsProline transporters balance the salicylic acid-mediated trade-off between regeneration and immunity in plants.
bioRxiv : the preprint server for biologyLINC02878/ZNF282/PYCR2 axis promotes proline synthesis and tumor progression in colorectal cancer.
Cellular and molecular life sciences : CMLSCntn4 Gene Deficiency Promotes Autism-Like Phenotypes Associated with Gut Microbiota Perturbations and Gut-Brain Axis Metabolomic Alterations in Mice.
Molecular neurobiologyMetabolomic Relationships Between Lung Cancer and Alzheimer's Disease Using Serum Nuclear Magnetic Resonance Spectroscopy.
NMR in biomedicineSustainable approaches to manage fusarium root rot in faba bean.
International microbiology : the official journal of the Spanish Society for MicrobiologyPhosphorylation of the β2 integrin subunit CD18 contributes to Actinobacillus pleuropneumoniae ApxI-induced cytotoxicity through the downregulation of Akt activity.
Scientific reportsThe MAB_3513c gene plays a key role in intrinsic resistance of Mycobacterium abscessus to isoniazid and ethionamide.
Microbiology spectrumIntegrated Transcriptomic and Physiological and Biochemical Analysis Revealed Response Mechanism of Rice (Oryza sativa L.) to Methylmercury Toxicity Stress.
ToxicsUnveiling the Structure of PROT and ATB0,+: Unique Members of the Glycine Transporter Subfamily.
Molecules (Basel, Switzerland)Cullin 2 Elevates the Warburg Effect to Accelerate the Development of Hypoxic Pulmonary Hypertension.
The American journal of pathologyQuantification of plasma tau species containing the proline-rich region as a biomarker in Alzheimer's disease.
Scientific reportsSystemic and skeletal muscle metabolic signatures associated with early insulin resistance in just-weaned non-obese Goto-Kakizaki diabetic rats.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieImmunogenic Streptococcus equi cell surface proteins identified by ORFeome phage display.
mSphereAn intrabody targeting PHD2 protects mice against acetaminophen-induced liver injury by attenuating ferroptosis.
Free radical biology & medicineEffects of a Gain-of-Function Mutation in the Voltage-Gated Sodium Channel Gene, and of Dietary α-Linolenic Acid Supplementation, on Whole-Body Metabolism in Drosophila.
Research squareThe effects of combined low-dose cadmium and deltamethrin on mitochondrial bioenergetics and metabolism in human lung fibroblasts.
Toxicology reportsDual Hyaluronidase Genes hysA and hysAνSaβ Enhance MRSA ST398 Skin Infection.
ACS infectious diseasesThe P4HA1/HIF1α feedback loop modulates endothelial dysfunction in pulmonary hypertension.
Respiratory researchA SARS-CoV-2 Mpro mutation conferring ensitrelvir resistance paradoxically increases nirmatrelvir susceptibility.
Nature communicationsEmerging roles of arginine metabolism in skeletal health and disease.
Metabolism: clinical and experimentalSerum analysis of type 2 diabetes mellitus patients with low, moderate, and high risk of diabetic kidney disease using LC-MS metabolomics approach.
Journal of diabetes and its complicationsBacillus subtilis and chitosan nanoparticles enhance potato virus Y (PVY) tolerance in tomato (Solanum lycopersicum L.) via modulation of antioxidants and secondary metabolites.
BMC plant biologyMultidimensional engineering strategies for strengthening exogenous synthesis of collagens and elastin monomers.
International journal of biological macromoleculesEffect of OmpA of Acinetobacter baumannii on apoptosis in pulmonary epithelial cells and its molecular mechanism.
Microbial pathogenesisImprovement of chilling tolerance and postharvest quality in mango fruit by pre-storage dopamine application.
Plant physiology and biochemistry : PPBOral L-Arginine treatment attenuates Cryptococcus neoformans extrapulmonary dissemination and disease progression.
VirulencePYCR1 drives lung cancer progression through functional interactions with EGFR and TLR signaling pathways.
Experimental & molecular medicineEffects of Hypoxia-Inducible Factor Prolyl Hydroxylase Inhibitors on Relationship Between B-Type Natriuretic Peptide and Hemoglobin Levels in Patients With Cardiorenal Anemia Syndrome.
Cardiovascular therapeuticsMetabolomic Profiling by UPLC-QTOF/MS Reveals Potential Biomarkers and Metabolic Alterations in Pediatric Septic Shock.
Journal of inflammation researchClick-Cyclized Cell Penetrating Peptides Containing Hydrophobic Proline Derivatives for Efficient Intracellular Delivery.
Angewandte Chemie (International ed. in English)Glutamine metabolism reprogramming promotes bladder cancer progression via PYCR1: a multi-omics and functional validation study.
Journal of translational medicineMT-ATP6 variant as a cause of adult-onset hereditary spastic paraparesis: A case report and literature review.
Journal of neuromuscular diseasesCa2+-driven PDIA6 biomolecular condensation ensures proinsulin folding.
Nature cell biologyCharacterizing gut microbiota and fecal metabolites in intervertebral disc degeneration: insights into the gut-disc axis.
Journal of applied microbiologyThe MYO1F interactome reveals ASAP1, CD2AP and SH3KBP1 as novel adaptor proteins in podosomes and phagosomes.
Journal of cell scienceMolecular mechanisms of cold stress-induced lens opacity: An investigation through multi-omics integrative analysis.
Experimental eye researchEmerging Roles of De Novo Proline Biosynthesis in Human Diseases.
FASEB bioAdvancesInvestigating the conformational landscape of human histidine-rich glycoprotein using amide HDX-MS.
The Biochemical journalDietary amino acids and the odds of metabolic dysfunction-associated fatty liver disease (MAFLD) among overweight and obese children and adolescents: a principal component analysis approach.
Nutrition & metabolismPhysiological responses of Marsol and CA-90 chestnut plants to high temperature and water scarcity co-exposure: a comparative study.
Plant physiology and biochemistry : PPB[Ac-SDKP antagonizes lung fibrosis through EGFR/STAT3 pathway in silicosis rats].
Zhonghua lao dong wei sheng zhi ye bing za zhi = Zhonghua laodong weisheng zhiyebing zazhi = Chinese journal of industrial hygiene and occupational diseasesModel-Informed Drug Development for Daprodustat Supports the Design of Individualized Dosing Regimens in Chronic Kidney Disease Patients With Anemia.
Clinical pharmacology and therapeuticsLoss of arginase 2 disrupts striatum-specific polyamine homeostasis.
The FEBS journalExploring the Causal Relationship Between Blood Metabolites and Chronic Periodontitis: Insights From Genetic Causal Analysis.
Journal of cellular and molecular medicineGuben-Qushi-Huayu formula and calycosin improve epidermal barrier function in psoriasis by inhibiting small proline-rich protein 1A.
Phytomedicine : international journal of phytotherapy and phytopharmacologyThe Interaction of PELP1 With FHL2 Contributes to Ectopic Endometrial Stromal Cell Proliferation, Angiogenesis, and Inflammation in Endometriosis.
Cell biology internationalComprehensive analysis of metabolic and molecular alterations in the blood of patients with Sjögren's syndrome based on untargeted metabolomics analysis.
BMC medical genomicsThe C-terminal tails of GroEL and its mitochondrial and chloroplastic homologs adopt polyproline II helices.
Protein science : a publication of the Protein SocietyUnveiling the mechanisms of Inonotus hispidus against polycystic ovary syndrome: An integrated metabolomics and network pharmacology approach in vivo and vitro.
The Journal of steroid biochemistry and molecular biologyMetabolic reprogramming of hippocampal endothelial cells contributes to blood-brain barrier dysfunction in perioperative neurocognitive disorder.
Biochemical and biophysical research communicationsBiological Peptides, Metabolites and Nanoparticles from Potassium-Solubilizing Bacteria: A Recent Horizon in Antimicrobial and Anti-biofilm Strategies.
Current microbiologyNon-invasive hair metabolome analysis reveals GERD and thyroid dysfunction in pulmonary fibrosis patients.
Metabolism openSplicing and frameshift variants in QSER1 may be involved in developmental phenotypes.
HGG advancesEicosapentaenoic Acid Modulates 3-Chloro-1,2-propanediol Dipalmitate Ester-Induced Disrupted Metabolism: A Dual-Approach Analysis Using Nontargeted Metabolomics and Computational Modeling.
Journal of agricultural and food chemistryPharmacological inhibition of SPAK-NKCC1 complex attenuates astrogliosis and restores cerebral blood flow in a mouse model of VCID.
Acta neuropathologica communicationsCaptopril restores microglial homeostasis and reverses ASD-like phenotype in a model of ASD induced by exposure in utero to anti-caspr2 IgG.
Molecular psychiatryOxidized angiotensin II peptides as mediators of cell signaling?
Free radical biology & medicineStabilisation of HIF signalling in the mouse epicardium extends embryonic potential and neonatal heart regeneration.
eLifeA missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome.
European journal of human genetics : EJHGPediococcus acidilactici PA-1 Alleviates Diet-Induced Obesity by Modulating Hepatic Amino Acid Metabolism and Gut Microbiota in Mice.
Probiotics and antimicrobial proteinsErythrocytosis-inducing PHD2 mutations implicate biological role for N-terminal prolyl-hydroxylation in HIF1α oxygen-dependent degradation domain.
eLifeMulti-omics data improves one-year mortality prediction in acute heart failure.
Clinica chimica acta; international journal of clinical chemistryAssociations between circulating amino acids and hepatic steatosis indices in Iranian adults aged over 50: findings from the Bushehr elderly health (BEH) program.
Journal of diabetes and metabolic disordersMetabolic changes in root exudates of plants with different disease severity affect plant resistance by regulating the rhizosphere microbiome.
Pest management sciencePaclitaxel resistance-associated metabolic events in ovarian cancer cells.
Metabolomics : Official journal of the Metabolomic SocietyRole of N,N,N Trimethyl-L-alanyl-L-proline Betaine Levels in the Process of Myocardial Infarction.
Journal of cardiovascular translational researchYiai Fuzheng decoction inhibits triple-negative breast cancer by remodeling the immune microenvironment.
Frontiers in immunologyIdentification of biomarkers in gynecologic cancers: a machine learning approach for metabolomics.
Translational and clinical pharmacologyProline Metabolism in Cancer: Emerging Roles in Redox Homeostasis and Therapeutic Opportunities.
CancersEnhanced Collagen Prolyl 4-Hydroxylase Activity and Expression Promote Cancer Progression via Both Canonical and Non-Canonical Mechanisms.
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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.
- Integrated multi-omics analyses elucidate the key regulatory networks in response to Tomato brown rugose fruit virus infection in Solanum lycopersicum L.
- Bacillus amyloliquefaciens induces autophagy-mediated defense, phytohormonal modulation, and metabolic reprogramming in Oryza sativa to counteract Rhizoctonia solani sheath blight.
- Early administration of renin-angiotensin system inhibitors improves survival and cardiac remodeling in heart failure with preserved ejection fraction.
- Small proline-rich protein 1A is a novel target of peroxisome proliferator-activated receptor gamma in steatotic liver disease.
- Sex-based multiomics analysis uncovers metabolic and molecular mediators linking MASH and atherosclerosis.
- Molecular docking, 3D-QASR and molecular dynamics simulations of thiazoles Pin1 inhibitors.
- Metabolic epilepsy in hyperprolinemia type II due to a novel nonsense ALDH4A1 gene variant.
- Crosstalk Among Disrupted Glutamatergic and Cholinergic Homeostasis and Inflammatory Response in Mechanisms Elicited by Proline in Astrocytes.
- Proline-induced changes in acetylcholinesterase activity and gene expression in zebrafish brain: reversal by antipsychotic drugs.
- Cytoskeleton of cortical astrocytes as a target to proline through oxidative stress mechanisms.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:289866(Orphanet)
- MONDO:0017355(MONDO)
- GARD:21157(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q13637044(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
