Search results for "sphingolipid"

showing 10 items of 74 documents

The longevity assurance homologue of yeast lag1 (Lass) gene family (Review)

2009

The Lass gene family contains a group of highly conserved genes that are found in eukaryotic species. The founding member, lag1, was discovered in a screen for yeast longevity genes. Subsequently, lag1 homologs were discovered in other organisms including six mammalian paralogs. All Lass genes encode a highly conserved Lag1 domain and many also have an additional Hox domain. Lass proteins are ceramide synthases and therefore are critical for ceramide biosynthesis. Ceramide synthase is also a critical enzyme in the sphingolipid biosynthetic pathway. As ceramide and sphingolipids are key intermediates in diverse cellular processes such as cell growth, apoptosis, and stress response and may al…

GeneticsCeramideMolecular Sequence DataMembrane ProteinsGeneral MedicineBiologyCeramidesModels BiologicalSphingolipidStructure-Activity Relationshipchemistry.chemical_compoundProtein structurechemistryNeoplasmsSphingosine N-AcyltransferaseGeneticsAnimalsHumansGene familyAmino Acid SequenceOxidoreductasesHox geneCeramide synthaseGeneFunction (biology)International Journal of Molecular Medicine
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Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis

2021

Key Points Question What genetic variants are associated with juvenile amyotrophic lateral sclerosis (ALS)? Findings In this family-based genetic study, exome sequencing was performed in 3 patients diagnosed with juvenile ALS and failure to thrive; this identified de novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient). Variants in SPTLC1 are a known cause of hereditary sensory and autonomic neuropathy, type 1A, and these data extend the phenotype associated with this gene. Meaning De novo variants in the SPTLC1 gene are associated with juvenile ALS, a fatal neurological disorder.

Hereditary sensory neuropathy; L-serine; Mutations; Deoxysphingolipids; AccumulationEnzyme complexJuvenile amyotrophic lateral sclerosisSerine C-Palmitoyltransferase/dk/atira/pure/subjectarea/asjc/2700/2728Whole Exome Sequencing0302 clinical medicineMedicineFamily historyAmyotrophic lateral sclerosisChildIndex caseExome sequencingOriginal Investigation0303 health sciencesNeurosciences and neurology3. Good healthChild PreschoolFailure to thriveFemalemedicine.symptomLife Sciences & BiomedicineL-SERINECommentsHumanAdultmedicine.medical_specialtyAdolescent; Adult; Amyotrophic Lateral Sclerosis; Child; Child Preschool; Female; Genetic Predisposition to Disease; Humans; Mutation; Serine C-Palmitoyltransferase; Whole Exome Sequencing; Young AdultAdolescentClinical NeurologyNO03 medical and health sciencesYoung AdultDEOXYSPHINGOLIPIDSInternal medicineExome SequencingOnline FirstHumansJuvenileGenetic Predisposition to DiseasePreschool030304 developmental biologyACCUMULATIONScience & TechnologySPTLC1business.industryMUTATIONSResearchAmyotrophic Lateral Sclerosis3112 Neurosciencesmedicine.diseaseHEREDITARY SENSORY NEUROPATHYjuvenileMutation3111 BiomedicineNeurology (clinical)Neurosciences & NeurologyALSgeneticbusiness030217 neurology & neurosurgeryAmyotrophic Lateral Sclerosi
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Automated untargeted stable isotope assisted lipidomics of liver cells on high glucose shows alteration of sphingolipid kinetics

2020

Abstract Untargeted lipidomics is a powerful tool to discover new biomarkers and to understand the physiology and pathology of lipids. The use of stable isotopes as tracers to investigate the kinetics of lipids is another tool able to supply dynamic information on lipid synthesis and catabolism. Coupling the two methodology is then very appealing in the study of lipid metabolism. The main issue to face is to perform thousands of calculations in order to obtain kinetic parameters starting from the MS raw data. An automated computerized routine able to do accomplish such task is presented in this paper. We analyzed the lipid kinetics of palmitic acid (PA) in hepatoma liver cells cultured in v…

KineticsPalmitic AcidHep G2 CellFatty Acids NonesterifiedOrbitrapHigh resolution mass spectrometry01 natural sciencesGas Chromatography-Mass SpectrometryWorkflowlaw.inventionPalmitic acidAutomation03 medical and health scienceschemistry.chemical_compoundInsulin resistancelawLipidomicsmedicineHumansMolecular Biology030304 developmental biologyKineticSphingolipids0303 health sciencesChromatographyChemistryLipidomic010401 analytical chemistryInsulin resistanceLipid metabolismHep G2 CellsCell BiologyDeuteriumLipid Metabolismmedicine.diseaseCulture Media0104 chemical sciencesKineticsGlucoseIsotope LabelingLipidomicsCell modelHepatocytesMonoisotopic massSphingomyelinAlgorithmsSoftwareBiochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids
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Modulation of Forssman Glycosphingolipid Expression by Murine Macrophages: Coinduction with Class II MHC Antigen by the Lymphokines IL4 and IL6

1990

In contrast to murine spleen M phi, resident peritoneal M phi from health mice express very little Forssman glycolipid antigen (Fo). The following experiments suggest that Fo expression by peritoneal M phi may be associated with inflammation. Balb/c and CBA/J mice were given inflammatory stimuli by i.p. injection of live BCG, thioglycollate (TG), Corynebacterium parvum (CP), proteose peptone (PP), or LPS. Control animals received pyrogen-free saline. Expression of Fo and Ia antigen by peritoneal M phi was determined by immunofluorescence after 4 d. Application of TG or CP led to an up to 30-fold increase in Fo+, Ia+ double positive M phi over that in control animals. LPS caused mainly an in…

LipopolysaccharidesMalemedicine.medical_treatmentImmunologyPriming (immunology)BiologyGlycosphingolipidsMiceColony-Stimulating FactorsAntigenAntigens HeterophilemedicineAnimalsImmunology and AllergyMacrophagePeritoneal CavityInterleukin 4Forssman AntigenMice Inbred BALB CMice Inbred C3HGlobosidesInterleukin-6Macrophage Colony-Stimulating FactorMacrophagesHistocompatibility Antigens Class IILymphokineHematologyForssman antigenCytokineImmunologyFemaleTumor necrosis factor alphaInterleukin-4Immunobiology
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Terpioside B, a difucosyl GSL from the marine sponge Terpios sp. is a potent inhibitor of NO release.

2010

Terpioside B (2a), a unique glycolipid containing two fucose residues in the furanose form in its pentasaccharide chain, was isolated from the marine sponge Terpios sp. Its complete stereostructure was solved by interpretation of mass spectrometric and NMR data along with CD and GG-MS analyses of its degradation products. Terpioside B is a potent inhibitor against LPS-induced NO release, and is considerably more active than simpler glycosphingolipids such as terpioside A and monoglucosylceramide.

LipopolysaccharidesTerpiosStereochemistryClinical BiochemistryMolecular ConformationPharmaceutical ScienceNitric Oxide01 natural sciencesBiochemistryFucoseCell Line03 medical and health scienceschemistry.chemical_compoundGlycolipidDrug DiscoveryAnimalsMolecular Biology030304 developmental biologychemistry.chemical_classification0303 health sciencesbiology010405 organic chemistryChemistryMacrophagesOrganic ChemistryAbsolute configurationGlycosphingolipidOligosaccharideMacrophage Activationbiology.organism_classificationFuranose0104 chemical sciencesPoriferaSpongeBiochemistryMolecular MedicineGlycolipidsBioorganicmedicinal chemistry
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Partitioning of Pyrene-Labeled Phospho- and Sphingolipids between Ordered and Disordered Bilayer Domains

2004

AbstractHere we have studied how the length of the pyrene-labeled acyl chain (n) of a phosphatidylcholine, sphingomyelin, or galactosylceramide affects the partitioning of these lipids between 1), gel and fluid domains coexisting in bovine brain sphingomyelin (BB-SM) or BB-SM/spin-labeled phosphatidylcholine (PC) bilayers or 2), between liquid-disordered and liquid-ordered domains in BB-SM/spin-labeled PC/cholesterol bilayers. The partitioning behavior was deduced either from modeling of pyrene excimer/monomer ratio versus temperature plots, or from quenching of the pyrene monomer fluorescence by spin-labeled PC. New methods were developed to model excimer formation and pyrene lipid quenchi…

Macromolecular SubstancesMembrane FluidityLipid BilayersMolecular ConformationBiophysicsPhase Transition03 medical and health scienceschemistry.chemical_compoundMembrane MicrodomainsPhosphatidylcholineMembrane fluidityFluorometryLipid bilayerPhospholipids030304 developmental biologySphingolipids0303 health sciencesPyrenesMembranesQuenching (fluorescence)Staining and LabelingChemistry030302 biochemistry & molecular biologyTemperatureBiological membraneModels ChemicalBiochemistryDipalmitoylphosphatidylcholineLiposomesBiophysicsPyrenelipids (amino acids peptides and proteins)SphingomyelinBiophysical Journal
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Lipidomic profiling identifies signatures of metabolic risk

2020

Background: Metabolic syndrome (MetS), the clustering of metabolic risk factors, is associated with cardiovascular disease risk. We sought to determine if dysregulation of the lipidome may contribute to metabolic risk factors. Methods: We measured 154 circulating lipid species in 658 participants from the Framingham Heart Study (FHS) using liquid chromatography-tandem mass spectrometry and tested for associations with obesity, dysglycemia, and dyslipidemia. Independent external validation was sought in three independent cohorts. Follow-up data from the FHS were used to test for lipid metabolites associated with longitudinal changes in metabolic risk factors. Results: Thirty-nine lipids were…

Male0301 basic medicineResearch paperdhSL dihydrosphingolipidBMI body mass indexlcsh:MedicineATHEROGENIC LIPOPROTEINSBioinformaticsFHS Framingham Heart StudyPC phosphatidylcholinePESA Progression of Early Subclinical Atherosclerosis0302 clinical medicineFramingham Heart StudyRisk FactorsSAFHS San Antonio Family Heart StudyLC-MS/MS liquid chromatography-tandem mass spectrometryMedicineLongitudinal StudiesMetabolic riskPLASMA SPHINGOLIPID METABOLISMPOPULATIONlcsh:R5-920education.field_of_studySPHINGOMYELINCE cholesteryl esterDysglycemiaGeneral MedicineMiddle AgedLipidomePS phosphatidylserineCardiovascular diseaseLipidsMetabolic syndrome3. Good healthCARDIOVASCULAR-DISEASE030220 oncology & carcinogenesisHEARTMetS metabolic syndromeFemaleDisease SusceptibilityLGPL lysoglycerophospholipidSL sphingolipidlcsh:Medicine (General)LPE lysophosphatidylethanolamineAdultFDR false discovery rateTAG triacylglycerolPopulationCer ceramideCVD cardiovascular diseasePE phosphatidylethanolamineDENSITY-LIPOPROTEINRisk AssessmentGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesAnimalsHumanseducationT2DM type II diabetes mellitusAgedLPC lysophosphatidylcholineSM sphingomyelinbusiness.industryCERAMIDElcsh:RHDL-C High density lipoprotein cholesterolBiomarkerLipid Metabolismmedicine.diseaseObesitySphingolipidCross-Sectional Studies030104 developmental biologyDyslipidemiaERF Erasmus Family StudyLipidomicsMetabolic syndromeINDUCED INSULIN-RESISTANCEbusinessDAG diacylglycerolBody mass indexBiomarkersDyslipidemiaMRM multiple reaction monitoringFASTING GLUCOSE
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Biomarkers for Antidepressant Efficacy of Electroconvulsive Therapy: An Exploratory Cerebrospinal Fluid Study

2018

<b><i>Background:</i></b> No candidate biomarkers based on cerebrospinal fluid (CSF) have been identified as prognostic factors in patients with major depression treated with electroconvulsive therapy (ECT), yet. <b><i>Method:</i></b> Following different underlying hypotheses, we analysed baseline CSF levels of markers of neurodegeneration (tau proteins, β-amyloids and neurogranin), elements of the innate immune system (interleukin [IL]-6, neopterin, soluble CD14, soluble CD163, migration inhibitory factor and monocyte chemotactic protein 1), endocannabinoids, sphingolipids and Klotho before ECT in patients with depression (<i>n</i&gt…

MaleOncologymedicine.medical_treatmentchemistry.chemical_compound0302 clinical medicineCerebrospinal fluidElectroconvulsive therapyNeurogranincerebrospinal fluid [Sphingolipids]Electroconvulsive TherapyKlothoGlucuronidaseAged 80 and overtherapy [Depressive Disorder Major]NeopterinInterleukinMiddle AgedPsychiatry and Mental healthTreatment OutcomeNeuropsychology and Physiological Psychologycerebrospinal fluid [Biomarkers]cerebrospinal fluid [Glucuronidase]Biomarker (medicine)AntidepressantFemaleAdultmedicine.medical_specialtyklotho proteinYoung Adult03 medical and health sciencesInternal medicinemental disordersmedicineHumansddc:610Klotho ProteinsBiological Psychiatrycerebrospinal fluid [Nerve Degeneration]AgedDepressive Disorder MajorSphingolipidsbusiness.industrycerebrospinal fluid [Depressive Disorder Major]Immunity Innate030227 psychiatrychemistryNerve Degenerationcerebrospinal fluid [Endocannabinoids]businessBiomarkers030217 neurology & neurosurgeryEndocannabinoidsNeuropsychobiology
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Ceramide inhibits Kv currents and contributes to TP-receptor-induced vasoconstriction in rat and human pulmonary arteries

2011

et al.

MalePatch-Clamp TechniquesPhysiologyReceptors ThromboxaneSpider Venoms030204 cardiovascular system & hematologyMuscle Smooth VascularMembrane Potentialschemistry.chemical_compound0302 clinical medicineHypoxic pulmonary vasoconstrictionVasoconstrictor AgentsProtein Kinase C0303 health sciencesAniline Compounds3. Good healthSphingomyelin Phosphodiesterasemedicine.anatomical_structurePotassium Channels Voltage-GatedCirculatory systemmedicine.symptomSphingomyelinSignal TransductionBlood vesselmedicine.medical_specialtyCeramidePhosphinesMyocytes Smooth MusclePulmonary ArteryBiologyCeramidesBenzylidene Compounds03 medical and health sciencesInternal medicinemedicineAnimalsHumansRats Wistar030304 developmental biologyCell BiologySphingolipidRatsHEK293 CellsEndocrinologychemistryVasoconstriction15-Hydroxy-11 alpha9 alpha-(epoxymethano)prosta-513-dienoic AcidVascular resistanceVascular ResistancePeptidesVasoconstrictionAmerican Journal of Physiology-Cell Physiology
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Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study.

2015

Niemann-Pick disease type C (NP-C) is a devastating, neurovisceral lysosomal storage disorder which is characterised by variable manifestation of visceral signs, progressive neuropsychiatric deterioration and premature death, caused by mutations in the NPC1 and NPC2 genes. Due to the complexity of diagnosis and the availability of an approved therapy in the EU, improved detection of NP-C may have a huge impact on future disease management. At the cellular level dysfunction or deficiency of either the NPC1 or NPC2 protein leads to a complex intracellular endosomal/lysosomal trafficking defect, and organ specific patterns of sphingolipid accumulation. Lysosphingolipids have been shown to be e…

MalePathologyEndocrinology Diabetes and Metabolismlcsh:MedicineDiseaseBiochemistryEndocrinologySphingosineTandem Mass Spectrometrylcsh:ScienceBlood Specimen CollectionMultidisciplinaryNiemann-Pick Disease Type CInherited Metabolic DisordersLipidsBiomarker (medicine)FemaleNiemann–Pick diseaseNiemann-Pick diseaseResearch ArticleAdultmedicine.medical_specialtyAdolescentPhosphorylcholineYoung AdultDiagnostic MedicineGeneticsmedicineHumansSphingolipidosisClinical geneticsMolecular BiologyEdetic AcidAgedRetrospective StudiesMedicine and health sciencesSphingolipidsNiemann–Pick disease type Cbusiness.industryHeparinlcsh:RCase-control studyPsychosineReproducibility of ResultsBiology and Life SciencesRetrospective cohort studymedicine.diseaseSphingolipidCase-Control StudiesAutosomal recessive diseasesMetabolic Disorderslcsh:QNPC1businessLysosphingomyelinBiomarkersPloS one
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