Search results for "isoforms"

showing 10 items of 185 documents

Induction of a disintegrin and metalloprotease 33 during embryonic lung development and the influence of IL-13 or maternal allergy.

2009

Background Asthma pathogenesis involves gene and environmental interactions. A disintegrin and metalloprotease 33 (ADAM33)/Adam33 is a susceptibility gene for asthma and bronchial hyperresponsiveness in human beings and mice. ADAM33 is almost exclusively expressed in mesenchymal cells, including mesenchymal progenitors in developing lungs. Objective Because maternal allergy is a risk factor for asthma, we hypothesized that an allergic environment affects ADAM33/Adam33 expression during human and mouse lung development. Methods Human embryonic/fetal lung (HEL) tissues were collected from first-trimester terminations of pregnancy. These were processed immediately or used for explant culture ±…

OvalbuminImmunologyADAM33AndrologyMiceOrgan Culture TechniquesGene interactionmedicineHypersensitivityImmunology and AllergyAnimalsHumansProtein IsoformsRNA MessengerLungFetusInterleukin-13medicine.diagnostic_testbiologyGene Expression Regulation Developmentalrespiratory tract diseasesOvalbuminADAM ProteinsBronchoalveolar lavageReal-time polymerase chain reactionInterleukin 13Immunologybiology.proteinLung morphogenesisADAM33 IL-13 Asthma AllergyThe Journal of allergy and clinical immunology
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Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle.

2002

Filamin C is the muscle isoform of a group of large actin-crosslinking proteins. On the one hand, filamin C is associated with the Z-disk of the myofibrillar apparatus and binds to myotilin; on the other hand, it interacts with the sarcoglycan complex at the sarcolemma. Filamin C may be involved in reorganizing the cytoskeleton in response to signalling events and in muscle it may, in addition, fulfill structural functions at the Z-disk. An examination of biopsies from patients with multi-minicore myopathy, central core myopathy and neurogenic target fibers with core-like target formations (TF) revealed strong reactivity of all the cores and target formations with two different anti-filamin…

Pathologymedicine.medical_specialtyanimal structuresBiopsyFilaminsmacromolecular substancesBiologyFilamin03 medical and health sciences0302 clinical medicineContractile ProteinsMuscular DiseasesReference ValuesmedicineMyotilinHumansProtein IsoformsCytoskeletonMyopathyMicroscopy ImmunoelectronMuscle Skeletal030304 developmental biology0303 health sciencesSarcolemmaMicrofilament Proteinsmedicine.diseaseImmunohistochemistryCell biologybody regionsNeurologyDesminNeurology (clinical)medicine.symptomMyofibrilCarrier Proteins030217 neurology & neurosurgeryCentral core diseaseBiomarkersJournal of the neurological sciences
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A FRET-based assay for characterization of alternative splicing events using peptide nucleic acid fluorescence in situ hybridization

2009

We describe a quantitative method for detecting RNA alternative splicing variants that combines in situ hybridization of fluorescently labeled peptide nucleic acid (PNA) probes with confocal microscopy Förster resonance energy transfer (FRET). The use of PNA probes complementary to sequences flanking a given splice junction allows to specifically quantify, within the cell, the RNA isoform generating such splice junction by FRET measure. As a proof of concept we analyzed two alternative splicing events originating from lymphocyte antigen 6 (LY6) complex, locus G5B (LY6G5B) pre-mRNA. These are characterized by the removal of the first intron (Fully Spliced Isoform, FSI) or by retention of suc…

Peptide Nucleic AcidsGene isoformCytoplasmIn situ hybridizationBiologychemistry.chemical_compoundFluorescence Resonance Energy TransferGeneticsmedicineHumansProtein IsoformsspliceRNA MessengerIn Situ Hybridization FluorescenceMicroscopy ConfocalPeptide nucleic acidmedicine.diagnostic_testAlternative splicingIntronPepsin AAlternative SplicingNucleic Acid ProbesFörster resonance energy transferBiochemistrychemistryBiophysicsMethods OnlineCell NucleolusHeLa CellsFluorescence in situ hybridizationNucleic Acids Research
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Specific processing of tenascin-C by the metalloprotease meprinβ neutralizes its inhibition of cell spreading

2009

The metalloprotease meprin has been implicated in tissue remodelling due to its capability to degrade extracellular matrix components. Here, we investigated the susceptibility of tenascin-C to cleavage by meprinbeta and the functional properties of its proteolytic fragments. A set of monoclonal antibodies against chicken and human tenascin-C allowed the mapping of proteolytic fragments generated by meprinbeta. In chicken tenascin-C, meprinbeta processed all three major splicing variants by removal of 10kDa N-terminal and 38kDa C-terminal peptides, leaving a large central part of subunits intact. A similar cleavage pattern was found for large human tenascin-C variant where two N-terminal pep…

Proteasesanimal structuresColonRecombinant Fusion ProteinsProtein subunitMolecular Sequence DataTenascinCleavage (embryo)Cell LineCrohn DiseaseCell AdhesionAnimalsHumansProtein IsoformsAmino Acid SequenceProtein Structure QuaternaryMolecular BiologyPeptide sequencebiologyAlternative splicingTenascin CMetalloendopeptidasesTenascinMolecular biologyPeptide FragmentsExtracellular MatrixFibronectinsFibronectinAlternative SplicingProtein Subunitsembryonic structuresbiology.proteinProtein MultimerizationChickensMatrix Biology
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Functional and dysfunctional conformers of human neuroserpin characterized by optical spectroscopies and Molecular Dynamics

2015

Neuroserpin (NS) is a serine protease inhibitor (SERPIN) involved in different neurological pathologies, including the Familial Encephalopathy with Neuroserpin Inclusion Bodies (FENIB), related to the aberrant polymerization of NS mutants. Here we present an in vitro and in silico characterization of native neuroserpin and its dysfunctional conformation isoforms: the proteolytically cleaved conformer, the inactive latent conformer, and the polymeric species. Based on circular dichroism and fluorescence spectroscopy, we present an experimental validation of the latent model and highlight the main structural features of the different conformers. In particular, emission spectra of aromatic res…

Protein FoldingCircular dichroismSerine Proteinase InhibitorsProtein ConformationStereochemistryNeuroserpinBiophysicsEpilepsies MyoclonicMolecular Dynamics SimulationSerpinMolecular DynamicsBiochemistryProtein Structure SecondaryArticleFluorescenceAnalytical ChemistryMolecular dynamicsProtein structureNeuroserpinmedicineHumansProtein IsoformsFluorescence emission spectra; circular dichroism; neuroserpin latent conformationneuroserpin latent conformationFamilial encephalopathy with neuroserpin inclusion bodiesMolecular BiologyConformational isomerismSerpinsFluorescence emission spectraSerpinChemistryCircular DichroismConformational diseaseNeuropeptidesHydrogen Bondingmedicine.diseaseSettore FIS/07 - Fisica Applicata(Beni Culturali Ambientali Biol.e Medicin)Heredodegenerative Disorders Nervous SystemProtein foldingBiochimica et Biophysica Acta (BBA) - Proteins and Proteomics
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Red blood with blue-blood ancestry: Intriguing structure of a snail hemoglobin

2006

The phylogenetic enigma of snail hemoglobin, its isolated occurrence in a single gastropod family, the Planorbidae, and the lack of sequence data, stimulated the present study. We present here the complete cDNA and predicted amino acid sequence of two hemoglobin polypeptides from the planorbid Biomphalaria glabrata (intermediate host snail for the human parasite Schistosoma mansoni ). Both isoforms contain 13 different, cysteine-free globin domains, plus a small N-terminal nonglobin “plug” domain with three cysteines for subunit dimerization (total M r ≈ 238 kDa). We also identified the native hemoglobin molecule and present here a preliminary 3D reconstruction from electron microscopical …

Protein subunitmedicine.medical_treatmentMolecular Sequence DataBiologyEvolution MolecularHemoglobinschemistry.chemical_compoundImaging Three-DimensionalHemolymphHemolymphImage Processing Computer-AssistedmedicineAnimalsProtein IsoformsBiomphalaria glabrataAmino Acid SequenceGlobinPhylogenyMultidisciplinaryBiomphalariaSequence Homology Amino AcidHemocyaninBiological Sciencesbiology.organism_classificationMolecular biologyProtein Structure TertiaryRespiratory proteinMyoglobinchemistryHemoglobinProceedings of the National Academy of Sciences
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The Metalloprotease Meprin β Generates Amino Terminal-truncated Amyloid β Peptide Species

2012

The amyloid β (Aβ) peptide, which is abundantly found in the brains of patients suffering from Alzheimer disease, is central in the pathogenesis of this disease. Therefore, to understand the processing of the amyloid precursor protein (APP) is of critical importance. Recently, we demonstrated that the metalloprotease meprin β cleaves APP and liberates soluble N-terminal APP (N-APP) fragments. In this work, we present evidence that meprin β can also process APP in a manner reminiscent of β-secretase. We identified cleavage sites of meprin β in the amyloid β sequence of the wild type and Swedish mutant of APP at positions p1 and p2, thereby generating Aβ variants starting at the first or seco…

ProteomicsMolecular Sequence DataMutantPeptideBiologyHydroxamic AcidsCleavage (embryo)BiochemistryCatalysis03 medical and health sciences0302 clinical medicineAlzheimer Diseasemental disordersmedicineAmyloid precursor proteinHumansProtein IsoformsAmino Acid SequenceMolecular Biology030304 developmental biologychemistry.chemical_classification0303 health sciencesMetalloproteinaseAmyloid beta-PeptidesWild typeBrainMetalloendopeptidasesMolecular Bases of DiseaseCell Biologymedicine.diseaseMolecular biologyProtein Structure TertiaryKineticsHEK293 CellsEnzymechemistryBiochemistryMutationMetalloproteasesbiology.proteinAmyloid Precursor Protein SecretasesAlzheimer's diseasePeptides030217 neurology & neurosurgeryJournal of Biological Chemistry
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Integrative proteomics: functional and molecular characterization of a particular glutamate-related neuregulin isoform.

2005

Glutamate is the major excitatory neurotransmitter in the mammalian brain and is related to memory by calcium-conducting receptors. Neuregulins have emerged as long-term modulating molecules of synaptic signaling by glutamate receptors, playing a role in some cognition/memory-related disorders and moreover being part of transient functional microdomains, called lipid rafts. Here we characterize one specific isoform of neuregulin as a central biomarker for glutamate-related signaling, integrating results from in vitro and in vivo models by a differential functional and proteomic approach.

ProteomicsNeuregulin-1Glutamic AcidNerve Tissue ProteinsBiochemistryHippocampusRats Sprague-DawleyAlzheimer DiseaseAnimalsHumansLearningProtein IsoformsNeuregulin 1ReceptorLipid raftCells CulturedbiologyGlutamate receptorGeneral ChemistryGlutamic acidCell biologyRatsbiology.proteinNeuregulinCalciumFemaleSynaptic signalingSignal transductionBiomarkersSignal TransductionJournal of proteome research
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Tissue proteomics of the human mammary gland: towards an abridged definition of the molecular phenotypes underlying epithelial normalcy.

2010

Our limited understanding of the biological impact of the whole spectrum of early breast lesions together with a lack of accurate molecular-based risk criteria for the diagnosis and assignment of prognostic significance to biopsy findings presents an important problem in the clinical management of patients harboring precancerous breast lesions. As a result, there is a need to identify biomarkers that can better determine the outcome of early breast lesions by identifying subpopulations of cells in breast premalignant disease that are at high-risk of progression to invasive disease. A first step towards achieving this goal will be to define the molecular phenotypes of the various cell types …

ProteomicsPaperCancer ResearchCell typeMammary glandProtein Array AnalysisMuscle ProteinsBreast NeoplasmsBiologyBioinformaticsProteomicsMass SpectrometryImmunophenotypingCytokeratinImmunophenotypingGeneticsmedicineHumansProtein IsoformsElectrophoresis Gel Two-DimensionalBiomarker discoveryDatabases ProteinMammary Glands HumanKeratin-19Proteomic ProfilingKeratin-15Epithelial CellsGeneral MedicineImmunohistochemistrymedicine.anatomical_structurePhenotypeOncologyMolecular MedicineFemaleStem cellBiomarkersMolecular oncology
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Chronic obstructive pulmonary disease and neutrophil infiltration: role of cigarette smoke and cyclooxygenase products.

2010

Cigarette smoke is the main cause of chronic obstructive pulmonary disease (COPD), where it can contribute to the observed airway inflammation. PGE(2) is produced within human airways, and both pro- and anti-inflammatory activities have been reported. We quantitated PGE(2) concentrations in induced sputum supernatants from different groups of subjects and correlated the obtained values to neutrophil infiltration as well as to the expression of cyclooxygenase-2 (COX-2). Cigarette smoke extract (CSE) was used to evaluate the effect of smoking on COX-2 and PGE(2) receptor expression as well as on PGE(2) release in neutrophils and alveolar macrophages (AM) obtained from normal donors. The effec…

Pulmonary and Respiratory MedicineMalePhysiologyMacrophageNeutrophilsPulmonary diseaseTobacco smokeDinoprostonePulmonary Disease Chronic ObstructivePhysiology (medical)SmokemedicineCell AdhesionCigarette smokeCOPDHumansProtein IsoformsReceptors Prostaglandin EPGE(2)Respiratory systemcox-2AgedCOPDbiologybusiness.industryMacrophagesRespiratory diseaseNeutrophilSmokingProstaglandin-Endoperoxide SynthaseSputumProtein IsoformCell BiologyMiddle Agedmedicine.diseaseMacrophages; Prostaglandin-Endoperoxide Synthases; Humans; Aged; Protein Isoforms; Neutrophil Infiltration; Smoke; Smoking; Dinoprostone; Receptors Prostaglandin E; Neutrophils; Middle Aged; Sputum; Female; Male; Pulmonary Disease Chronic Obstructive; Cell Adhesionrespiratory tract diseasesNeutrophil InfiltrationProstaglandin-Endoperoxide SynthasesImmunologybiology.proteinFemaleCyclooxygenasebusinessInfiltration (medical)HumanAmerican journal of physiology. Lung cellular and molecular physiology
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