Search results for "wild type"

showing 10 items of 181 documents

Quantitative analysis of the impact of a human pathogenic mutation on the CCT5 chaperonin subunit using a proxy archaeal ortholog

2017

The human chaperonin complex is a ~ 1 MDa nanomachine composed of two octameric rings formed from eight similar but non-identical subunits called CCT. Here, we are elucidating the mechanism of a heritable CCT5 subunit mutation that causes profound neuropathy in humans. In previous work, we introduced an equivalent mutation in an archaeal chaperonin that assembles into two octameric rings like in humans but in which all subunits are identical. We reported that the hexadecamer formed by the mutant subunit is unstable with impaired chaperoning functions. This study quantifies the loss of structural stability in the hexadecamer due to the pathogenic mutation, using differential scanning calorim…

0301 basic medicineProtein subunitMutantBiophysicsHeterologousBiochemistryChaperoninChaperoninlcsh:Biochemistry03 medical and health sciencesDSC differential scanning calorimetryCCT% chaperoninPf Pyrococcus furiosusDenaturation (biochemistry)lcsh:QD415-436Molecular Biologylcsh:QH301-705.5DLS dynamic light scatteringbiologyITC isothermal titration calorimetryWild typeIsothermal titration calorimetryCell BiologyChaperonopathiesbiology.organism_classificationProtein calorimetryNeuropathyPyrococcus furiosus030104 developmental biologyBiochemistryBiophysiclcsh:Biology (General)Pyrococcus furiosusChaperonopathieCCT5; Chaperonin; Chaperonopathies; Neuropathy; Protein calorimetry; Pyrococcus furiosus; Biophysics; Biochemistry; Molecular Biology; Cell BiologyCCT5Pyrococcus furiosuResearch ArticlePf-CD1 Pyrococcus furiosus chaperonin subunit with the last 22 amino acids deletedBiochemistry and Biophysics Reports
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Pressure effects on α-synuclein amyloid fibrils: An experimental investigation on their dissociation and reversible nature

2017

α–synuclein amyloid fibrils are found in surviving neurons of Parkinson's disease affected patients, but the role they play in the disease development is still under debate. A growing number of evidences points to soluble oligomers as the major cytotoxic species, while insoluble fibrillar aggregates could even play a protection role. In this work, we investigate α–synuclein fibrils dissociation induced at high pressure by means of Small Angle X-ray Scattering and Fourier Transform Infrared Spectroscopy. Fibrils were produced from wild type α–synuclein and two familial mutants, A30P and A53T. Our results enlighten the different reversible nature of α–synuclein fibrils fragmentati…

0301 basic medicineSmall AngleAmyloidHigh-pressureMutantBiophysicsmacromolecular substances010402 general chemistryFibril01 natural sciencesBiochemistryDissociation (chemistry)Scattering03 medical and health scienceschemistry.chemical_compoundX-Ray DiffractionScattering Small AngleSpectroscopy Fourier Transform InfraredPressureHumansPoint MutationFourier transform infrared spectroscopyMolecular BiologySpectroscopyAlpha-synucleinAmyloid; FTIR; High-pressure; SAXS; α-synuclein; Amyloid; Humans; Parkinson Disease; Point Mutation; Pressure; Scattering Small Angle; Solubility; Spectroscopy Fourier Transform Infrared; X-Ray Diffraction; alpha-Synuclein; Biophysics; Biochemistry; Molecular BiologySmall-angle X-ray scatteringWild typeα-synucleinParkinson DiseaseSAXSAmyloid fibril0104 chemical sciences?-synucleinCrystallography030104 developmental biologyBiophysicchemistryFTIRSolubilityFourier Transform InfraredBiophysicsalpha-SynucleinHuman
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Combined B, T and NK Cell Deficiency Accelerates Atherosclerosis in BALB/c Mice.

2016

This study focused on the unique properties of both the Ldlr knockout defect (closely mimicking the human situation) and the BALB/c (C) inbred mouse strain (Th-2 slanted immune response). We generated two immunodeficient strains with severe combined B- and T-cell immunodeficiency with or without a complete lack of natural killer cells to revisit the role of adaptive immune responses on atherogenesis. C-Ldlr-/- Rag1-/- mice, which show severe combined B- and T-cell immunodeficiency and C-Ldlr-/- Rag1-/- Il2rg-/- mice, which combine the T- and B-cell defect with a complete lack of natural killer cells and inactivation of multiple cytokine signalling pathways were fed an atherogenic Western ty…

0301 basic medicineT-Lymphocyteslcsh:MedicineNK cellsAdaptive ImmunityBiochemistryVascular MedicineMicechemistry.chemical_compoundCellular typesReceptorlcsh:ScienceImmunodeficiencyMice KnockoutB-LymphocytesMice Inbred BALB CMultidisciplinarybiologyT CellsImmune cellsAcquired immune systemLipidsPlaque AtheroscleroticKiller Cells NaturalCholesterolPhenotypeWhite blood cellsFemalelipids (amino acids peptides and proteins)Research ArticleCell biologyBlood cellsLipoproteinsImmunologyResearch and Analysis MethodsBALB/cImmune Deficiency03 medical and health sciencesImmune systemmedicineAnimalsImmunohistochemistry TechniquesTriglyceridesMedicine and health sciencesBiology and life sciencesCholesterolMacrophageslcsh:RImmunologic Deficiency SyndromesWild typeProteinsAtherosclerosisbiology.organism_classificationmedicine.diseaseMolecular biologyHistochemistry and Cytochemistry Techniques030104 developmental biologyAnimal cellsReceptors LDLchemistryImmune SystemMutationImmunologyLDL receptorImmunologic TechniquesClinical Immunologylcsh:QClinical MedicinePLoS ONE
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Over-expression of CsGSTU promotes tolerance to the herbicide alachlor and resistance to Pseudomonas syringae pv. tabaci in transgenic tobacco

2017

Glutathione transferases (GSTs) mainly catalyze the nucleophilic addition of glutathione to a large variety of hydrophobic molecules participating to the vacuole compartmentalization of many toxic compounds. In this work, the putative tolerance of transgenic tobacco plants over-expressing CsGSTU genes towards the chloroacetanilide herbicide alachlor was investigated. Our results show that the treatment with 0.0075 mg cm-3 of alachlor strongly affects the growth of both wild type and transformed tobacco seedlings with the sole exception of the transgenic lines overexpressing CsGSTU2 isoform that are barely influenced by herbicide treatment. In order to correlate the in planta studies with en…

0301 basic medicineTransgeneHost–pathogen interactionAlachlorWild typefood and beveragesPlant ScienceGlutathioneHorticultureBiotic stressBiology03 medical and health scienceschemistry.chemical_compound030104 developmental biologybiotic stress glutathione transferase host-pathogen interaction phytoremediationBiochemistrychemistryBotanyPseudomonas syringaePlant defense against herbivoryBiologia plantarum
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C3 Drives Inflammatory Skin Carcinogenesis Independently of C5

2021

Nonmelanoma skin cancer such as cutaneous squamous cell carcinoma (cSCC) is the most common form of cancer and can occur as a consequence of DNA damage to the epithelium by UVR or chemical carcinogens. There is growing evidence that the complement system is involved in cancer immune surveillance; however, its role in cSCC remains unclear. Here, we show that complement genes are expressed in tissue from patients with cSCC, and C3 activation fragments are present in cSCC biopsies, indicating complement activation. Using a range of complement-deficient mice in a two-stage mouse model of chemically-induced cSCC, where a subclinical dose of 7,12-dimethylbenz[a]anthracene causes oncogenic mutatio…

0301 basic medicineWT wild typeSkin NeoplasmsComplement receptorComplement Membrane Attack Complexmedicine.disease_causeBiochemistrychemistry.chemical_compoundMice0302 clinical medicineCR complement receptorComplement ActivationSkinMice KnockoutcSCC cutaneous squamous cell carcinomaComplement C5Complement C3Receptors Complement030220 oncology & carcinogenesisCarcinoma Squamous CellDisease ProgressionTumor BiologyOriginal ArticleMAC membrane attack complexSignal TransductionHPV16 human papillomavirus type 16910-Dimethyl-12-benzanthraceneTPA 12-O-tetradecanoylphorbol-13-acetateMice TransgenicDermatologySettore MED/08 - Anatomia Patologica03 medical and health sciencesmedicineAnimalsHumansC3Molecular BiologyReceptor Anaphylatoxin C5aDMBA 712-dimethylbenz[a]anthracenebusiness.industry712-Dimethylbenz[a]anthraceneCancerCell BiologyNeoplasms Experimentalmedicine.diseaseComplement systemDisease Models Animal030104 developmental biologychemistryTumor progressionCancer researchCarcinogensTumor EscapeSkin cancerbusinessCarcinogenesisComplement membrane attack complexSkin carcinogenesis.EC epithelial cell
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TLR2 modulates gut colonization and dissemination of Candida albicans in a murine model

2016

Invasive candidiasis often arises from translocation of endogenous yeasts from the gastrointestinal tract to the bloodstream. Here we describe that both wild type and TLR2−/− mice strains, orally administered with Candida albicans yeasts, display similar sustained high level of gut colonization when oral antibacterial treatment is present, while removal of antibiotic treatment causes a progressive clearance of yeasts in control but not in TLR2−/− mice. Fungal invasion of internal organs, following immunosuppression of colonized mice, was increased in TLR2−/− mice. These results point out to a role of TLR2 in gut protection against colonization and endogenous invasion by C. albicans. This wo…

0301 basic medicinemedicine.drug_classFarmacología030106 microbiologyImmunologyAntibioticsEndogenyGut colonizationMicrobiologyMicrobiology03 medical and health sciencesImmunosuppressed miceCandida albicansmedicineTLR2AnimalsCandidiasis InvasiveColonizationCandida albicansMice KnockoutGastrointestinal tractbiologyWild typebiology.organism_classificationToll-Like Receptor 2Corpus albicansGastrointestinal TractMice Inbred C57BLTLR2030104 developmental biologyInfectious DiseasesImmunologyDisease SusceptibilityMicrobes and Infection
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Genetic inactivation of the sigma-1 chaperone protein results in decreased expression of the R2 subunit of the GABA-B receptor and increased suscepti…

2021

There is a growing body of evidence demonstrating the significant involvement of the sigma-1 chaperone protein in the modulation of seizures. Several sigma-1 receptor (Sig1R) ligands have been demonstrated to regulate the seizure threshold in acute and chronic seizure models. However, the mechanism by which Sig1R modulates the excitatory and inhibitory pathways in the brain has not been elucidated. The aim of this study was to compare the susceptibility to seizures of wild type (WT) and Sig1R knockout (Sig1R−/−) mice in intravenous pentylenetetrazol (PTZ) and (+)-bicuculline (BIC) infusion-induced acute seizure and Sig1R antagonist NE-100-induced seizure models. To determine pos…

0301 basic medicinemedicine.medical_specialtyKnockoutGene ExpressionNitric Oxide Synthase Type IISigma-1 receptorConvulsantsAnisolesSigma-1 receptor Knockout GABA-B receptor Seizures Medial habenula NE-100BicucullineHippocampuslcsh:RC321-571Mice03 medical and health sciences0302 clinical medicineDownregulation and upregulationSeizuresInternal medicineGene expressionmedicineAnimalsReceptors sigmaGABA-B receptorGenetic Predisposition to DiseasePentylenetetrazolReceptorlcsh:Neurosciences. Biological psychiatry. NeuropsychiatryMice KnockoutHabenulaSigma-1 receptorPropylaminesSeizure thresholdChemistryMedial habenulaWild typeAntagonistReceptors GABA-A030104 developmental biologyEndocrinologyReceptors GABA-BNeurologyNE-100Pentylenetetrazole030217 neurology & neurosurgerymedicine.drugNeurobiology of Disease
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NT-3 protein levels are enhanced in the hippocampus of PRG1-deficient mice but remain unchanged in PRG1/LPA2 double mutants

2015

The plasticity-related gene 1 (PRG1) modulates bioactive lipids at the postsynaptic density and is a novel player in neuronal plasticity and regulation of glutamatergic transmission at principal neurons. PRG1, a neuronal molecule, is highly expressed during development and regeneration processes at the postsynaptic density, modulates synaptic lysophosphatidic acid (LPA) levels and is related to epilepsy and brain injury. In the present study, we analyzed the interaction between the synaptic molecules PRG1 and LPA2R with other plasticity-related molecules the neurotrophins. The protein levels of NGF, BDNF and NT-3 were measured using ELISA in hippocampal tissue of homozygous (PRG(-/-)) and h…

0301 basic medicinemedicine.medical_specialtyPhosphatidate PhosphataseHippocampusHippocampal formationHippocampusMice03 medical and health sciences0302 clinical medicineNeurotrophic factorsInternal medicineNerve Growth FactormedicineAnimalsNerve Growth FactorsReceptors Lysophosphatidic AcidMice KnockoutBrain-derived neurotrophic factorbiologyBrain-Derived Neurotrophic FactorGeneral NeuroscienceWild typeMice Mutant Strains030104 developmental biologyNerve growth factorEndocrinologynervous systemBiochemistrySynapsesbiology.proteinPostsynaptic density030217 neurology & neurosurgeryNeurotrophinNeuroscience Letters
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The Role of p53 Signaling in Colorectal Cancer.

2021

Simple Summary The transcription factor p53 is a crucial tumor suppressor that regulates diverse cellular responses to protect against cancer development. Deactivating p53 signaling either by altering p53 regulators or by p53 mutations occurs frequently in human colorectal carcinoma (CRC). Forty-three percent of CRCs harbor p53 mutations that reduce wild-type p53 tumor suppressor activity and often provide neo-morphic functions, which contribute to tumorigenesis. In this review, we summarize wild-type p53 signaling, how it can be deregulated in CRC, and the functional and phenotypical effects of p53 mutations. We also discuss current therapeutic strategies of targeting p53. Abstract The tra…

0301 basic medicinewild type p53Cancer ResearchDNA repairCellular differentiationcolorectal cancerReview03 medical and health sciences0302 clinical medicinemedicineTranscription factorRC254-282gain-of-functionbiologyCell growthmutant p53CancerNeoplasms. Tumors. Oncology. Including cancer and carcinogensmedicine.diseaseUbiquitin ligasep53 signaling030104 developmental biologyOncology030220 oncology & carcinogenesisCancer cellbiology.proteinCancer researchMdm2cancer therapyp53 pathwayCancers
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Role of MUC1 in idiopathic pulmonary fibrosis: mechanistic insights

2017

Background: Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive and irreversible form of fibrotic interstitial lung disease. MUC1, a membrane-bound O-glycoprotein, is considered as oncogenic molecule by altering signaling pathways involved in cellular processes related to IPF. In previous studies we have observed an up-regulation of MUC1 and its phosphorylated forms in IPF lung tissue. However the exact participation of MUC1 in IPF is currently unknown. Objective: To analyze the mechanism of MUC1-induced lung fibrosis in different cellular and animal models of IPF. Methods: The intracellular mechanism of MUC1 was evaluated by western blot, immunoprecipation and immunofluorescence …

030204 cardiovascular system & hematologyImmunofluorescence03 medical and health sciencesIdiopathic pulmonary fibrosis0302 clinical medicineWestern blot0502 economics and businessmedicineskin and connective tissue diseasesFibroblastneoplasmsMUC1Lungmedicine.diagnostic_testbusiness.industry05 social sciencesInterstitial lung diseaseWild typerespiratory systemmedicine.diseasedigestive system diseasesrespiratory tract diseasesmedicine.anatomical_structureCancer research050211 marketingbusinessDiffuse Parenchymal Lung Disease
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