Condrodisplasia punctata (CDP) corresponde a um grupo misto de displasias ósseas raras caracterizadas por calcificações puntiformes afetando principalmente as cartilagens epifisárias. A CDP é diagnosticada geralmente durante o primeiro ano de vida, sendo acompanhada de mau prognóstico. A CDP encontra-se frequentemente associadas a encurtamento dos membros, fissuras coronais em vértebras da coluna torácica e lombar, microcefalia e atraso de crescimento, mobilidade articular restrita, catarata, ictiose, alopécia, alterações do sistema nervoso, retardo psicomotor, dificuldade de sucção e deglutição, deficiência auditiva e visual, convulsões, hipoplasia do nervo óptico, cifoescoliose e espinha bífida.
Introdução
O que você precisa saber de cara
Doença rara caracterizada por deficiência na produção de plasmalogênios, levando a rizomelia, microcefalia progressiva, atrofia cerebelar e dificuldades motoras severas. Afeta o desenvolvimento neurológico e físico, com manifestações como catarata juvenil e alterações faciais.
Encontrou um erro ou informação desatualizada? Sugira uma correção →
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
+ 30 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 114 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Triagem neonatal (Teste do Pezinho)
A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.
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
5 genes identificados com associação a esta condição.
Dihydroxyacetonephosphate acyltransferase catalyzing the first step in the biosynthesis of plasmalogens, a subset of phospholipids that differ from other glycerolipids by having an alkyl chain attached through a vinyl ether linkage at the sn-1 position of the glycerol backbone, and which unique physical properties have an impact on various aspects of cell signaling and membrane biology
Peroxisome membrane
Rhizomelic chondrodysplasia punctata 2
A form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe intellectual disability with spasticity.
Receptor that mediates peroxisomal import of proteins containing a C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) (PubMed:11101887, PubMed:11336669, PubMed:12456682, PubMed:16314507, PubMed:17157249, PubMed:17428317, PubMed:21976670, PubMed:26344566, PubMed:7706321, PubMed:7719337, PubMed:7790377). Binds to cargo proteins containing a PTS1 peroxisomal targeting signal in the cytosol, and translocates them into the peroxisome matrix by passing through the PEX13-PEX14 dock
Cytoplasm, cytosolPeroxisome matrix
Peroxisome biogenesis disorder 2A
A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and characterized clinically by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life.
Receptor required for the peroxisomal import of proteins containing a C-terminal PTS2-type peroxisomal targeting signal (PubMed:11931631, PubMed:22057399, PubMed:25538232, PubMed:9090381). Specifically binds to cargo proteins containing a PTS2 peroxisomal targeting signal in the cytosol (PubMed:11931631, PubMed:22057399, PubMed:25538232). Cargo protein-binding triggers interaction with PEX5 and formation of a ternary complex composed of PEX5 and PEX7 along with PTS2-containing cargo proteins, wh
Cytoplasm, cytosolPeroxisome matrix
Peroxisome biogenesis disorder complementation group 11
A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
Catalyzes the exchange of the acyl chain in acyl-dihydroxyacetonephosphate (acyl-DHAP) for a long chain fatty alcohol, yielding the first ether linked intermediate, i.e. alkyl-dihydroxyacetonephosphate (alkyl-DHAP), in the pathway of ether lipid biosynthesis
Peroxisome membranePeroxisome
Rhizomelic chondrodysplasia punctata 3
A form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe intellectual disability with spasticity.
Catalyzes the reduction of saturated and unsaturated C16 or C18 fatty acyl-CoA to fatty alcohols (PubMed:15220348, PubMed:24108123, PubMed:35238077). It plays an essential role in the production of ether lipids/plasmalogens which synthesis requires fatty alcohols (PubMed:20071337, PubMed:24108123, PubMed:33239752). In parallel, it is also required for wax monoesters production since fatty alcohols also constitute a substrate for their synthesis (By similarity) (PubMed:24108123, PubMed:35238077)
Peroxisome membrane
Peroxisomal fatty acyl-CoA reductase 1 disorder
An autosomal recessive metabolic disorder clinically characterized by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity.
Variantes genéticas (ClinVar)
449 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
7 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 da biossíntese dos plasmalogênios
Selecione um estado ou use sua localização para ver resultados.
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
Plasmalogen deficiency and the Alzheimer's disease risk of apolipoprotein E4.
The ε4 allele of the APOE gene, encoding the E4 isoform of apolipoprotein E, is the leading genetic risk factor for late-onset Alzheimer's disease. While many potential mechanisms have been proposed to explain this risk, no dominant or unifying process has yet emerged. Here, we explore the primary function of apolipoprotein E in lipid transport and metabolism, by examining its lipid association properties, to establish whether they show isoform dependence and thereby could mediate Alzheimer's risk. We focus on ethanolamine plasmalogen, a phospholipid subclass known to be depleted in Alzheimer's disease brain. We purified apolipoprotein E from human cerebrospinal fluid by immunoprecipitation using an anti-pan-apolipoprotein E monoclonal antibody bound to magnetic beads, then conducted lipidomic and proteomic analyses of the precipitates by mass spectrometry. The cerebrospinal fluid samples were obtained from cognitively intact, relatively young individuals with no evidence of amyloid pathology and with known apolipoprotein E isoform status (E3E3, n = 5; E3E4, n = 4; E4E4, n = 5). The molar ratio of ethanolamine plasmalogen to apolipoprotein E was 29.5% lower for E4E4 than for E3E3 (P = 0.007) with a biological gradient: E3E3 > E3E4 > E4E4 (P = 0.03). No similar trends and differences were found for phosphatidyl ethanolamine, a chemically related lipid (P = 0.5). Compared to E3E3, the molar ratio of ethanolamine plasmalogen to phosphatidyl ethanolamine was significantly reduced for E3E4 (P = 0.0016) and E4E4 (P = 0.0001). The latter deficiency was similar in magnitude to that found in Alzheimer's disease brain relative to control. The finding that ethanolamine plasmalogen is depleted in apolipoprotein E4 relative to E3 strengthens the view that brain deficiency of this same lipid contributes to Alzheimer's disease causation, rather than being an effect of the neurodegeneration. Simultaneously, these results supply a potential mechanism for the risk of E4 versus E3, the former being less able to counteract the tissue defect. The apolipoprotein E4 lipid depletion cannot itself be a consequence of Alzheimer's disease, since cerebrospinal fluid samples were taken from individuals with no evidence of the condition. The biological gradient in ethanolamine plasmalogen deficiency mirrors the relationship of Alzheimer's disease risk (odds ratio) to E4 allelic dose. Ethanolamine plasmalogen deficiency could be linked to, or indeed drive, several metabolic pathways implicated in Alzheimer's pathogenesis, including amyloid-beta deposition and cholesterol dysregulation. Future studies should extend approaches to therapeutic intervention in Alzheimer's disease which attempt to reverse this lipid abnormality.
Peroxisomes in Aging: Guardians of Cellular Resilience and Function.
Peroxisomes are multifunctional organelles that play essential roles in lipid metabolism, redox regulation, and cellular signaling. An expanding body of evidence implicates peroxisomal dysfunction as a key contributor to aging and age-related diseases. Aging is accompanied by progressive declines in key peroxisomal functions, including catalase activity, fatty acid β-oxidation, plasmalogen biosynthesis, and the metabolism of bile acids and docosahexaenoic acid, resulting in increased oxidative stress, lipid dysregulation, and alterations in membrane composition. Impaired pexophagy further exacerbates these defects by allowing the accumulation of damaged peroxisomes and compromising cellular homeostasis. Through extensive metabolic and signaling crosstalk with mitochondria, the endoplasmic reticulum, and lysosomes, peroxisomal dysfunction can propagate oxidative and metabolic disturbances throughout the cell. In addition, peroxisome-derived signaling molecules, such as hydrogen peroxide and bioactive lipids, link peroxisomal activity to cellular stress responses and organismal metabolic homeostasis. We propose that aging-associated impairments in peroxisomal protein import, redox regulation, and selective turnover progressively shift peroxisomes from adaptive metabolic signaling hubs toward sources of chronic oxidative and lipid stress. In this context, current studies highlight peroxisomal homeostasis as a potential determinant of healthy aging and point to peroxisomal pathways as emerging targets for intervention in age-related disease.
CRISPR knockout screens reveal genes and pathways essential for neuronal differentiation and implicate PEDS1 in neurodevelopment.
Neurodevelopmental disorders (NDDs) arise from disruptions in brain development, yet the underlying pathways remain incompletely understood. Here we demonstrate that genome-wide CRISPR knockout screens in mouse embryonic stem cells differentiating into neural lineages identify hundreds of essential genes, only a minority of which are currently implicated in NDDs. Dominant NDD genes were enriched for transcriptional regulators, whereas recessive NDD genes were predominantly involved in metabolic processes. Mouse models for eight genes (Eml1, Dusp26, Dynlrb2, Mta3, Peds1, Sgms1, Slitrk4 and Vamp3) revealed marked neuroanatomical abnormalities, including microcephaly in half of the cases. Focusing on PEDS1, a key enzyme in plasmalogen biosynthesis, we identified a bi-allelic variant in individuals with microcephaly, global developmental delay and congenital cataracts. In mice, Peds1 deficiency led to accelerated cell-cycle exit and impaired neuronal differentiation and migration. These pathways required for neural differentiation provide a genetic framework for discovering additional NDD genes.
Lipidomic remodeling of the brain and muscle in a zebrafish model of depression.
Major depressive disorder (MDD) is a highly prevalent and disabling psychiatric condition, increasingly recognized as a systemic disorder involving central and peripheral pathophysiological alterations. In this study, we used a multidimensional approach using zebrafish (Danio rerio) exposed to an unpredictable chronic stress (UCS) protocol as a model of MDD, to unravel the plasticity of the lipidome in this mental disorder. Behavioral analyses revealed a reduction in sociability and locomotor activity in stressed animals, accompanied by significantly elevated cortisol levels. Fatty acid profiling demonstrated a decrease in n-3 (omega-3) polyunsaturated fatty acids (PUFA) and an increase in n-3 (omega-6) PUFA, which was more evident in the brain than in the muscle. After UCS, lipidomic analysis revealed a remodeling of the brain lipid profile, including the modulation of several phospholipid and sphingolipid species that may impact cell membrane properties and cause neuronal dysfunction. Some of these species have been previously correlated with neuroinflammation and impaired neurotransmission. An increase in plasmalogen phospholipids, well-known endogenous oxidant signaling molecules, suggests a dysregulation of the redox state. In muscle, lipidomic alterations were characterized by elevated levels of acylcarnitines, indicative of altered mitochondrial energy metabolism, and ceramides, well-known pro-inflammatory and pro-apoptotic molecules. This study highlights the relevance of lipidomic plasticity in the pathophysiology of MDD, associated with behavioral effects similar to MDD symptoms.
Quantification and Localisation of New Brain Lipid Synthesis Using Deuterium Oxide and High Resolution Mass Spectrometry.
Myelin is the lipid-rich membrane that surrounds neuronal axons and is essential for neurological function in vertebrates. The development of therapeutics that stimulate myelin repair to treat demyelinating disorders such as multiple sclerosis is hampered by the inability to distinguish newly synthesised from pre-existing myelin. This study aimed to develop a method to quantify and localise new myelin lipid synthesis in the mouse brain. Deuterium oxide was administered for two weeks in the drinking water of mice fed normal chow, chow containing the demyelinating toxin cuprizone, or during spontaneous remyelination following cuprizone withdrawal. Liquid chromatography-tandem mass spectrometry and mass spectrometry imaging were used to quantify and localise the newly synthesised, deuterated lipids. While most glycerophospholipids were constitutively deuterated, deuteration of myelin-enriched sulfatides, hexosylceramides, and phosphatidylethanolamine plasmalogens was only apparent during remyelination. Most deuterium atoms were found in the fatty acyl chains, indicative of de novo lipid synthesis. Deuterated hexosylceramide and phosphatidylethanolamine plasmalogen species were localised primarily to the corpus callosum, the white matter tract that is most heavily affected by cuprizone. The method described herein provides the means to quantify and spatially profile dynamic lipid synthesis across diverse biological contexts, including understanding myelin homeostasis and preclinical evaluation of remyelinating therapeutics.
Publicações recentes
Neuronal lipidome in schizophrenia and metabolic syndrome: Potential interventions.
Liver Metabolomic Profiling Reveals Distinct Signatures Between Steatosis and Metabolic Dysfunction-Associated Steatohepatitis.
Peroxisomes in Aging: Guardians of Cellular Resilience and Function.
Lipid and immune dysregulation and risk of metabolic disorders after HCV clearance in HIV/HCV-coinfected participants with cACLD: a retrospective study.
Metabolomic Profiling Reveals Brain Lipid Alterations in PEX7-Deficient Models of Rhizomelic Chondrodysplasia Punctata.
📚 EuropePMCmostrando 200
Lipidomic remodeling of the brain and muscle in a zebrafish model of depression.
Journal of affective disordersQuantification and Localisation of New Brain Lipid Synthesis Using Deuterium Oxide and High Resolution Mass Spectrometry.
Angewandte Chemie (International ed. in English)Longitudinal analysis of lipid changes in the sciatic nerve caused by overexpression of PMP22 in murine models of CMT1A.
Journal of lipid researchPlasmalogen deficiency and the Alzheimer's disease risk of apolipoprotein E4.
Brain communicationsNeuronal lipidome in schizophrenia and metabolic syndrome: Potential interventions.
Progress in neuro-psychopharmacology & biological psychiatryLiver Metabolomic Profiling Reveals Distinct Signatures Between Steatosis and Metabolic Dysfunction-Associated Steatohepatitis.
Liver international : official journal of the International Association for the Study of the LiverPeroxisomes in Aging: Guardians of Cellular Resilience and Function.
CellsLipid and immune dysregulation and risk of metabolic disorders after HCV clearance in HIV/HCV-coinfected participants with cACLD: a retrospective study.
Frontiers in immunologyMetabolomic Profiling Reveals Brain Lipid Alterations in PEX7-Deficient Models of Rhizomelic Chondrodysplasia Punctata.
BiomoleculesPhospholipid Profiling Established by Structure-Rich Fragments for Molecular Species Level Shotgun Analysis.
Rapid communications in mass spectrometry : RCMCerebrospinal fluid metabolomic signatures in paediatric MOGAD and POMS.
Frontiers in immunologyCRISPR knockout screens reveal genes and pathways essential for neuronal differentiation and implicate PEDS1 in neurodevelopment.
Nature neuroscienceCharacterising the effect of circulating sphingolipids on metastatic prostate cancer cells.
EBioMedicineVegetarian Dietary Patterns and Diet-Related Metabolites Are Associated With Kidney Function in the Adventist Health Study-2 Cohort.
Journal of renal nutrition : the official journal of the Council on Renal Nutrition of the National Kidney FoundationThe Changes in Plasmalogens: Chemical Diversity and Nutritional Implications-A Narrative Review.
NutrientsMulti-omic analysis reveals lipid dysregulation associated with mitochondrial dysfunction in parkinson's disease brain.
Nature communicationsFerroptosis in Tubular Epithelial Cells Across Distinct Renal Regions Is a Primary Causal Factor for Lupus Nephritis.
Antioxidants & redox signalingPlasmalogens as biomarkers and therapeutic targets.
Journal of lipid researchMetabolomic biomarkers of rest-activity rhythms in older men: results from the Osteoporotic Fractures in Men (MrOS) study.
SleepMetabolomic biomarkers of rest-activity rhythms in older women: results from the Women's Health Initiative study.
SleepImpact of APOE on cerebrovascular lipid profile in Alzheimer's disease.
Acta neuropathologicaAcyl-CoA Reductase Far1 Deficiency Impairs Ether Lipid Production and Hypomyelination in Mouse Brains.
Molecular and cellular biologyAssociation of Dietary Micronutrient Intake and the Metabolome in Children with CKD.
Clinical journal of the American Society of Nephrology : CJASNLipidomic Signature of Abdominal Aortic Aneurysm and Peripheral Artery Disease.
Journal of proteome researchMetabolomic profiles of an atherogenic TMAO-dietary pattern among postmenopausal women.
European journal of nutritionThe metabolic signature of salt intake: a cross-sectional analysis from the SCAPIS-study.
Nutrition & metabolismAlterations in ether lipid metabolism in obesity revealed by systems genomics of multi-omics datasets.
PLoS biologyAssociations between 1400 metabolites and subtypes of endometriosis: a two-sample Mendelian randomisation study.
Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and GynaecologyBrain-region-specific lipid dysregulation in L-DOPA-induced dyskinesia in a primate model of Parkinson's disease.
NPJ Parkinson's diseaseEffects of Mytilus edulis derived plasmalogens against atherosclerosis via lipid metabolism and MAPK signaling pathway.
NPJ science of foodMulti-omics characterization of diabetic nephropathy in the db/db mouse model of type 2 diabetes.
Computational and structural biotechnology journalLipidome of high-density lipoprotein is strongly perturbed in hyperalphalipoproteinemia resulting from a rare mutation in endothelial lipase.
Atherosclerosis plusEggerthella lenta Produces a Cryptic Pro-inflammatory Lipid.
Journal of the American Chemical SocietyPlasma and Serum LC-MS Lipidomic Fingerprints of Bipolar Disorder and Schizophrenia.
International journal of molecular sciencesDeleting ACC1 in platelets alters phospholipidome and reduces platelet activation and thrombosis in mice.
Blood advancesSPNS1 variants cause multiorgan disease and implicate lysophospholipid transport as critical for mTOR-regulated lipid homeostasis.
The Journal of clinical investigationThe Circulating Lipidome In Severe Obesity.
medRxiv : the preprint server for health sciencesVisualizing fatigue mechanisms in non-communicable diseases: an integrative approach with multi-omics and machine learning.
BMC medical informatics and decision makingLipidomic signatures linked to gut microbiota alterations in children and adolescents with type 2 diabetes mellitus and metabolic syndrome.
Scientific reportsPlasmalogen remodeling modulates macrophage response to cytotoxic oxysterols and atherosclerotic plaque vulnerability.
Cell reports. MedicineDysregulated metabolic pathways of pulmonary fibrosis and the lipids associated with the effects of nintedanib therapy.
Respiratory researchNeem seed protein hydrolysates alleviate iron-induced cardiac injury via effects on angiotensin-converting enzyme, purinergic enzymes, redox balance, and lipid metabolism.
Archives of physiology and biochemistryA multi-metabolite signature robustly predicts long-term mortality in the PREDIMED trial and several US cohorts.
Metabolism: clinical and experimentalInfluence of Ibuprofen on glycerophospholipids and sphingolipids in context of Alzheimer´s Disease.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieFunctional characterization of TMEM86A and TMEM86B mutants by a novel lysoplasmalogenase assay.
Journal of lipid researchLongitudinal Metabolomics in Amyotrophic Lateral Sclerosis Implicates Impaired Lipid Metabolism.
Annals of neurologyPlasmalogens Activate AKT/mTOR Signaling to Attenuate Reactive Oxygen Species Production in Spinal Cord Injury.
Current gene therapyMolecular cloning, expression, and functional analyses of plasmanylethanolamine desaturase gene of Takifugu rubripes.
GeneMid-life anti-inflammatory metabolites are inversely associated with long-term cardiovascular disease events.
EBioMedicinePlasmalogens Improve Lymphatic Clearance of Amyloid Beta from Mouse Brain and Cognitive Functions.
International journal of molecular sciencesLeishmania major surface components and DKK1 signalling via LRP6 promote migration and longevity of neutrophils in the infection site.
Frontiers in immunologyDetermination of Plasmalogen Molecular Species in Hen Eggs.
Molecules (Basel, Switzerland)Oral Disease and Atherosclerosis May Be Associated with Overlapping Metabolic Pathways.
JDR clinical and translational researchLipidomics profiling and circulating triglyceride concentrations in sub-Saharan African individuals.
Scientific reportsMetabolomic profiles of incident gallstone disease.
BMJ open gastroenterologyThe suppression of nuclear factor kappa B/microRNA 222 axis alleviates lipopolysaccharide-induced acute lung injury through increasing the alkylglyceronephosphate synthase expression.
Journal of infection and chemotherapy : official journal of the Japan Society of ChemotherapySynthesis of Plasmalogen Derivatives with Unnatural Fatty Acids as Substrates for Ferroptosis Induction.
ACS chemical biologyTafazzin deficiency causes substantial remodeling in the lipidome of a mouse model of Barth Syndrome cardiomyopathy.
Frontiers in molecular medicineA novel inducible animal model for studying chronic plasmalogen deficiency associated with Alzheimer's disease.
Brain researchVolatilome is Inflammasome- and Lipidome-dependent in Ischemic Heart Disease.
Current cardiology reviewsPEX3 promotes regenerative repair after myocardial injury in mice through facilitating plasma membrane localization of ITGB3.
Communications biologyMultifactor Analyses of Frontal Cortex Lipids in the APP/PS1 Model of Familial Alzheimer's Disease Reveal Anomalies in Responses to Dietary n-3 PUFA and Estrogenic Treatments.
GenesHigh coverage of targeted lipidomics revealed lipid changes in the follicular fluid of patients with insulin-resistant polycystic ovary syndrome and a positive correlation between plasmalogens and oocyte quality.
Frontiers in endocrinologyDevelopment and validation of a plasmalogen score as an independent modifiable marker of metabolic health: population based observational studies and a placebo-controlled cross-over study.
EBioMedicineCharacterization of phospholipidome in milk, yogurt and cream, and phospholipid differences related to various dairy processing methods.
Food chemistryDistinctive Lipid Characteristics of Colorectal Cancer Revealed through Non-targeted Lipidomics Analysis of Tongue Coating.
Journal of proteome researchSea Cucumber Plasmalogen Regulates the Lipid Profile in High-Fat Diet Mouse Liver via Lipophagy.
Journal of agricultural and food chemistrySea cucumber plasmalogen enhance lipophagy to alleviate abnormal lipid accumulation induced by high-fat diet.
Biochimica et biophysica acta. Molecular and cell biology of lipidsPlasmalogen, a glycerophospholipid crucial for Streptococcus mutans acid tolerance and colonization.
Applied and environmental microbiologyLength and saturation of choline plasmalogens alter the aggregation rate of α-synuclein but not the toxicity of amyloid fibrils.
International journal of biological macromoleculesLipid and Transcriptional Regulation in a Parkinson's Disease Mouse Model by Intranasal Vesicular and Hexosomal Plasmalogen-Based Nanomedicines.
Advanced healthcare materialsParallel Metabolomics and Lipidomics of a PSMA/GCPII Deficient Mouse Model Reveal Alteration of NAAG Levels and Brain Lipid Composition.
ACS chemical neurosciencePlasma metabolites of a healthy lifestyle in relation to mortality and longevity: Four prospective US cohort studies.
Med (New York, N.Y.)Tissue-specific roles of peroxisomes revealed by expression meta-analysis.
Biology directProtective effect of scallop-derived plasmalogen against vascular dysfunction, via the pSTAT3/PIM1/NFATc1 axis, in a novel mouse model of Alzheimer's disease with cerebral hypoperfusion.
Brain researchPhosphatidylcholine-Plasmalogen-Oleic Acid Reduces BACE1 Expression in Human SH-SY5Y Cells.
Biological & pharmaceutical bulletinAlterations in lipidome profiles distinguish early-onset hyperuricemia, gout, and the effect of urate-lowering treatment.
Arthritis research & therapyCSE triggers ferroptosis via SIRT4-mediated GNPAT deacetylation in the pathogenesis of COPD.
Respiratory researchLipidomic Analysis Reveals Differences in the Extent of Remyelination in the Brain and Spinal Cord.
Journal of proteome researchNeuroprotective effect of plasmalogens on AlCl3-induced Alzheimer's disease zebrafish via acting on the regulatory network of ferroptosis, apoptosis and synaptic neurotransmission release with oxidative stress as the center.
Neuroscience lettersMarine Plasmalogens: A Gift from the Sea with Benefits for Age-Associated Diseases.
Molecules (Basel, Switzerland)The transcription factor ChREBP links mitochondrial lipidomes to mitochondrial morphology and progression of diabetic kidney disease.
The Journal of biological chemistryPlasmalogen Improves Memory Function by Regulating Neurogenesis in a Mouse Model of Alzheimer's Diseases.
International journal of molecular sciencesParkinson's Disease and the Heart: Studying Cardiac Metabolism in the 6-Hydroxydopamine Model.
International journal of molecular sciencesTumor Lipid Signatures Are Descriptive of Acquisition of Therapy Resistance in an Endocrine-Related Breast Cancer Mouse Model.
Journal of proteome researchChronic inflammation, neuroglial dysfunction, and plasmalogen deficiency as a new pathobiological hypothesis addressing the overlap between post-COVID-19 symptoms and myalgic encephalomyelitis/chronic fatigue syndrome.
Brain research bulletinA targeted metabolomics approach for sepsis-induced ARDS and its subphenotypes.
Critical care (London, England)Utilization of LC-MS/MS and Drift Tube Ion Mobility for Characterizing Intact Oxidized Arachidonate-Containing Glycerophosphatidylethanolamine.
Journal of the American Society for Mass SpectrometryComplex Hereditary Spastic Paraparesis Caused by de novo p.Arg480Ser in FAR1.
Indian journal of pediatricsNeonatal rhizomelic chondrodysplasia punctata type 2 caused by a novel homozygous variant in the GNPAT gene.
Clinical case reportsEffects of high-sugar, high-cholesterol, and high-fat diet on phospholipid profile of mouse tissues with a focus on the mechanism of plasmalogen synthesis.
Biochimica et biophysica acta. Molecular and cell biology of lipidsDifferential Eye Expression of Xenopus Acyltransferase Gnpat and Its Biochemical Characterization Shed Light on Lipid-Associated Ocular Pathologies.
Investigative ophthalmology & visual scienceSeveral serum lipid metabolites are associated with relapse risk in pediatric-onset multiple sclerosis.
Multiple sclerosis (Houndmills, Basingstoke, England)Changes in Plasma Neutral and Ether-Linked Lipids Are Associated with The Pathology and Progression of Alzheimer's Disease.
Aging and diseaseSystematic crosstalk in plasmalogen and diacyl lipid biosynthesis for their differential yet concerted molecular functions in the cell.
Progress in lipid researchLipidomics Reveals Elevated Plasmalogens in Women with Obesity Who Develop Preeclampsia.
Journal of clinical medicineDietary Protection against Cognitive Impairment, Neuroinflammation and Oxidative Stress in Alzheimer's Disease Animal Models of Lipopolysaccharide-Induced Inflammation.
International journal of molecular sciencesTranscriptomics integrated with metabolomics reveals the ameliorating effect of mussel-derived plasmalogens on high-fat diet-induced hyperlipidemia in zebrafish.
Food & functionMouse Models to Study Peroxisomal Functions and Disorders: Overview, Caveats, and Recommendations.
Methods in molecular biology (Clifton, N.J.)Lipidomic profiling of the Brazilian yellow scorpion venom: new insights into inflammatory responses following Tityus serrulatus envenomation.
Journal of toxicology and environmental health. Part APrenatal Choline Supplement in a Maternal Obesity Model Modulates Offspring Hepatic Lipidomes.
NutrientsCord Blood Plasma Metabolome-wide Associations With Height From Birth to Adolescence.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchGemfibrozil-Induced Intracellular Triglyceride Increase in SH-SY5Y, HEK and Calu-3 Cells.
International journal of molecular sciencesOverlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency.
International journal of molecular sciencesa-Synuclein and lipids in erythrocytes of Gaucher disease carriers and patients before and after enzyme replacement therapy.
PloS oneAlterations in ether lipid metabolism and the consequences for the mouse lipidome.
Biochimica et biophysica acta. Molecular and cell biology of lipidsMyelin lipid metabolism and its role in myelination and myelin maintenance.
Innovation (Cambridge (Mass.))Compartmentalized regulation of lipid signaling in oxidative stress and inflammation: Plasmalogens, oxidized lipids and ferroptosis as new paradigms of bioactive lipid research.
Progress in lipid researchAdvances in multi-omics study of biomarkers of glycolipid metabolism disorder.
Computational and structural biotechnology journalPlasmalogens and platelet-activating factor roles in chronic inflammatory diseases.
BioFactors (Oxford, England)Plasmalogens inhibit neuroinflammation and promote cognitive function.
Brain research bulletinThe Effect of a Pex3 Mutation on Hearing and Lipid Content of the Inner Ear.
CellsRelative Abundance of Lipid Metabolites in Spermatozoa across Three Compartments.
International journal of molecular sciencesDysfunctional peroxisomal lipid metabolisms and their ocular manifestations.
Frontiers in cell and developmental biologyRegulation of plasmalogen metabolism and traffic in mammals: The fog begins to lift.
Frontiers in cell and developmental biologyCardiac immune cell infiltration associates with abnormal lipid metabolism.
Frontiers in cardiovascular medicineVitamin B12 Attenuates Changes in Phospholipid Levels Related to Oxidative Stress in SH-SY5Y Cells.
CellsSelenoprotein I (selenoi) as a critical enzyme in the central nervous system.
Archives of biochemistry and biophysicsPeroxisomal regulation of energy homeostasis: Effect on obesity and related metabolic disorders.
Molecular metabolismEther lipid transfer across the blood-brain and placental barriers does not improve by inactivation of the most abundant ABC transporters.
Brain research bulletinDecreases of ethanolamine plasmalogen and phosphatidylcholine in erythrocyte are a common phenomenon in Alzheimer's, Parkinson's, and coronary artery diseases.
Brain research bulletinPlasmalogen in the brain: Effects on cognitive functions and behaviors attributable to its properties.
Brain research bulletinMolecular insights into peroxisome homeostasis and peroxisome biogenesis disorders.
Biochimica et biophysica acta. Molecular cell researchA Pex7 Deficient Mouse Series Correlates Biochemical and Neurobehavioral Markers to Genotype Severity-Implications for the Disease Spectrum of Rhizomelic Chondrodysplasia Punctata Type 1.
Frontiers in cell and developmental biologyDietary PUFA Preferably Modify Ethanolamine-Containing Glycerophospholipids of the Human Plasma Lipidome.
NutrientsThe Platelet Lipidome Is Altered in Patients with COVID-19 and Correlates with Platelet Reactivity.
Thrombosis and haemostasisPlasma Lipid Profiling Identifies Phosphatidylcholine 34:3 and Triglyceride 52:3 as Potential Markers Associated with Disease Severity and Oxidative Status in Chronic Obstructive Pulmonary Disease.
LungImpaired Membrane Lipid Homeostasis in Schizophrenia.
Schizophrenia bulletinEPA-enriched plasmalogen attenuates the cytotoxic effects of LPS-stimulated microglia on the SH-SY5Y neuronal cell line.
Brain research bulletinPlasmalogens and Photooxidative Stress Signaling in Myxobacteria, and How it Unmasked CarF/TMEM189 as the Δ1'-Desaturase PEDS1 for Human Plasmalogen Biosynthesis.
Frontiers in cell and developmental biologyTricky Isomers-The Evolution of Analytical Strategies to Characterize Plasmalogens and Plasmanyl Ether Lipids.
Frontiers in cell and developmental biologyPharmacokinetics, Mass Balance, Excretion, and Tissue Distribution of Plasmalogen Precursor PPI-1011.
Frontiers in cell and developmental biologyFirst insights into the honey bee (Apis mellifera) brain lipidome and its neonicotinoid-induced alterations associated with reduced self-grooming behavior.
Journal of advanced researchPlasmalogenic Lipid Analogs as Platelet-Activating Factor Antagonists: A Potential Novel Class of Anti-inflammatory Compounds.
Frontiers in cell and developmental biologyBisphenol A Impairs Lipid Remodeling Accompanying Cell Differentiation in the Oligodendroglial Cell Line Oli-Neu.
Molecules (Basel, Switzerland)Phosphatidylcholine-Plasmalogen-Oleic Acid Has Protective Effects against Arachidonic Acid-Induced Cytotoxicity.
Biological & pharmaceutical bulletinMethylxanthines Induce a Change in the AD/Neurodegeneration-Linked Lipid Profile in Neuroblastoma Cells.
International journal of molecular sciencesHepatoprotective effects of sea cucumber ether-phospholipids against alcohol-induced lipid metabolic dysregulation and oxidative stress in mice.
Food & functionThe expanding role of lyso-phosphatidylcholine acyltransferase-3 (LPCAT3), a phospholipid remodeling enzyme, in health and disease.
Current opinion in lipidologyAlterations of Sphingolipid and Phospholipid Pathways and Ornithine Level in the Plasma as Biomarkers of Parkinson's Disease.
CellsBiomarker profiling of postmortem blood for diabetes mellitus and discussion of possible applications of metabolomics for forensic casework.
International journal of legal medicineEvidence for Peroxisomal Dysfunction and Dysregulation of the CDP-Choline Pathway in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome.
medRxiv : the preprint server for health sciencesUsing Machine Learning to Identify Metabolomic Signatures of Pediatric Chronic Kidney Disease Etiology.
Journal of the American Society of Nephrology : JASNEffects of changing from a diet with saturated fat to a diet with n-6 polyunsaturated fat on the serum metabolome in relation to cardiovascular disease risk factors.
European journal of nutritionChanges in Plasma Phospholipid Metabolism Are Associated with Clinical Manifestations of Systemic Sclerosis.
Diagnostics (Basel, Switzerland)Impact of Vitamin D3 Deficiency on Phosphatidylcholine-/Ethanolamine, Plasmalogen-, Lyso-Phosphatidylcholine-/Ethanolamine, Carnitine- and Triacyl Glyceride-Homeostasis in Neuroblastoma Cells and Murine Brain.
BiomoleculesPlasmalogens improve swimming performance by modulating the expression of genes involved in amino acid and lipid metabolism, oxidative stress, and ferroptosis in an Alzheimer's disease zebrafish model.
Food & functionIntegrative Analysis of the Inflammatory Bowel Disease Serum Metabolome Improves Our Understanding of Genetic Etiology and Points to Novel Putative Therapeutic Targets.
GastroenterologyStructure-specific, accurate quantitation of plasmalogen glycerophosphoethanolamine.
Analytica chimica actaAdipoAtlas: A reference lipidome for human white adipose tissue.
Cell reports. MedicineDietary Ethanolamine Plasmalogen Alleviates DSS-Induced Colitis by Enhancing Colon Mucosa Integrity, Antioxidative Stress, and Anti-inflammatory Responses via Increased Ethanolamine Plasmalogen Molecular Species: Protective Role of Vinyl Ether Linkages.
Journal of agricultural and food chemistryOxidative Stress Linked Organ Lipid Hydroperoxidation and Dysregulation in Mouse Model of Nonalcoholic Steatohepatitis: Revealed by Lipidomic Profiling of Liver and Kidney.
Antioxidants (Basel, Switzerland)Interplay between cardiolipin and plasmalogens in Barth syndrome.
Journal of inherited metabolic diseaseHeat Stress Alters the Intestinal Microbiota and Metabolomic Profiles in Mice.
Frontiers in microbiologyA Prospective Study of Early-pregnancy Thyroid Markers, Lipid Species, and Risk of Gestational Diabetes Mellitus.
The Journal of clinical endocrinology and metabolismComprehensive metabolomics profiling reveals common metabolic alterations underlying the four major non-communicable diseases in treated HIV infection.
EBioMedicinePlacental 13C-DHA metabolism and relationship with maternal BMI, glycemia and birthweight.
Molecular medicine (Cambridge, Mass.)Shotgun lipidomics of liver and brain tissue of Alzheimer's disease model mice treated with acitretin.
Scientific reportsThe Ability of Metabolomics to Discriminate Non-Small-Cell Lung Cancer Subtypes Depends on the Stage of the Disease and the Type of Material Studied.
CancersGenetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata.
Orphanet journal of rare diseasesShark liver oil supplementation enriches endogenous plasmalogens and reduces markers of dyslipidemia and inflammation.
Journal of lipid researchDifferent Lipid Signature in Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders.
CellsAnthracyclins Increase PUFAs: Potential Implications in ER Stress and Cell Death.
CellsTriple-Knockout, Synuclein-Free Mice Display Compromised Lipid Pattern.
Molecules (Basel, Switzerland)Alterations of Lipidomes in Rat Photoreceptor Degeneration Induced by N-Methyl-N-nitrosourea.
LipidsCharacterization of brain-derived extracellular vesicle lipids in Alzheimer's disease.
Journal of extracellular vesiclesCompound heterozygous p. Arg949Trp and p. Gly970Ala mutations deteriorated the function of PEX1p: A study on PEX1 in a patient with Zellweger syndrome.
Journal of cellular biochemistryNuclear lipidome is altered in amyotrophic lateral sclerosis: A pilot study.
Journal of neurochemistryEndothelial ether lipids link the vasculature to blood pressure, behavior, and neurodegeneration.
Journal of lipid researchA comparative study on the lipidome of normal knee synovial fluid from humans and horses.
PloS oneSystemic metabolite profiling reveals sexual dimorphism of AIBP control of metabolism in mice.
PloS oneCoronavirus-Induced Host Cubic Membranes and Lipid-Related Antiviral Therapies: A Focus on Bioactive Plasmalogens.
Frontiers in cell and developmental biologyPostmortem Analyses in a Patient With Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): II. Histological, Lipid, and Gene Expression Outcomes in Regional Brain Tissue.
Journal of child neurologyThe Emerging Physiological Role of AGMO 10 Years after Its Gene Identification.
Life (Basel, Switzerland)Effects of chronic HBV infection on lipid metabolism in non-alcoholic fatty liver disease: A lipidomic analysis.
Annals of hepatologyLipidomic Analysis of Postmortem Prefrontal Cortex Phospholipids Reveals Changes in Choline Plasmalogen Containing Docosahexaenoic Acid and Stearic Acid Between Cases With and Without Alzheimer's Disease.
Neuromolecular medicineEffects of Dietary Supplementation with EPA-enriched Phosphatidylcholine and Phosphatidylethanolamine on Glycerophospholipid Profile in Cerebral Cortex of SAMP8 Mice fed with High-fat Diet.
Journal of oleo scienceBiological Functions of Plasmalogens.
Advances in experimental medicine and biologyPeroxisome Biogenesis Disorders.
Advances in experimental medicine and biology7-Ketocholesterol- and 7β-Hydroxycholesterol-Induced Peroxisomal Disorders in Glial, Microglial and Neuronal Cells: Potential Role in Neurodegeneration : 7-ketocholesterol and 7β-hydroxycholesterol-Induced Peroxisomal Disorders and Neurodegeneration.
Advances in experimental medicine and biologyPeroxisome: Metabolic Functions and Biogenesis.
Advances in experimental medicine and biologyRemodeling Lipids in the Transition from Chronic Liver Disease to Hepatocellular Carcinoma.
CancersDecrease in Myelin-Associated Lipids Precedes Neuronal Loss and Glial Activation in the CNS of the Sandhoff Mouse as Determined by Metabolomics.
MetabolitesPlasmalogen Biosynthesis by Anaerobic Bacteria: Identification of a Two-Gene Operon Responsible for Plasmalogen Production in Clostridium perfringens.
ACS chemical biologyMetabolic Reprogramming-A New Era How to Prevent and Treat Graft Versus Host Disease After Allogeneic Hematopoietic Stem Cell Transplantation Has Begun.
Frontiers in pharmacologyClinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata.
Journal of inherited metabolic diseaseLipid alterations in human frontal cortex in ALS-FTLD-TDP43 proteinopathy spectrum are partly related to peroxisome impairment.
Neuropathology and applied neurobiologyAn autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Genetics in medicine : official journal of the American College of Medical GeneticsSerum phospholipidomics reveals altered lipid profile and promising biomarkers in multiple sclerosis.
Archives of biochemistry and biophysicsPeroxisome Deficiency Impairs BDNF Signaling and Memory.
Frontiers in cell and developmental biologyEarly disruption of nerve mitochondrial and myelin lipid homeostasis in obesity-induced diabetes.
JCI insightLarge-Scale Multi-omic Analysis of COVID-19 Severity.
Cell systemsN-Docosahexaenoylethanolamine Attenuates Neuroinflammation and Improves Hippocampal Neurogenesis in Rats with Sciatic Nerve Chronic Constriction Injury.
Marine drugsAdvances in the Biosynthetic Pathways and Application Potential of Plasmalogens in Medicine.
Frontiers in cell and developmental biologyThe Degron Architecture of Squalene Monooxygenase and How Specific Lipids Calibrate Levels of This Key Cholesterol Synthesis Enzyme.
Advances in experimental medicine and biologyA lipid-related metabolomic pattern of diet quality.
The American journal of clinical nutritionPeroxisome quality control and dysregulated lipid metabolism in neurodegenerative diseases.
Experimental & molecular medicineComparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal Disorders.
Frontiers in cell and developmental biologyPlasmalogens, platelet-activating factor and beyond - Ether lipids in signaling and neurodegeneration.
Neurobiology of disease1-O-Alkylglycerol accumulation reveals abnormal ether glycerolipid metabolism in Sjögren-Larsson syndrome.
Molecular genetics and metabolismAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Doença da biossíntese dos plasmalogênios.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Doença da biossíntese dos plasmalogênios
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
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.
- Plasmalogen deficiency and the Alzheimer's disease risk of apolipoprotein E4.
- Peroxisomes in Aging: Guardians of Cellular Resilience and Function.
- CRISPR knockout screens reveal genes and pathways essential for neuronal differentiation and implicate PEDS1 in neurodevelopment.
- Lipidomic remodeling of the brain and muscle in a zebrafish model of depression.
- Quantification and Localisation of New Brain Lipid Synthesis Using Deuterium Oxide and High Resolution Mass Spectrometry.
- Neuronal lipidome in schizophrenia and metabolic syndrome: Potential interventions.
- Liver Metabolomic Profiling Reveals Distinct Signatures Between Steatosis and Metabolic Dysfunction-Associated Steatohepatitis.
- Lipid and immune dysregulation and risk of metabolic disorders after HCV clearance in HIV/HCV-coinfected participants with cACLD: a retrospective study.
- Metabolomic Profiling Reveals Brain Lipid Alterations in PEX7-Deficient Models of Rhizomelic Chondrodysplasia Punctata.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:3276(Orphanet)
- MONDO:0017986(MONDO)
- GARD:18790(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55787665(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
