Search results for "function"

showing 10 items of 14432 documents

Beyond the Transport Function of Import Receptors: What’s All the FUS about?

2018

Nuclear import receptors are central players in transporting protein cargoes into the nucleus. Moving beyond this role, four newly published articles describe a function in regulating supramolecular assemblies by fine-tuning the phase separating properties of RNA-binding proteins, which has implications for a variety of devastating neurodegenerative disorders.

0301 basic medicineProteomeActive Transport Cell NucleusReceptors Cytoplasmic and NuclearBiologyKaryopherinsModels BiologicalGeneral Biochemistry Genetics and Molecular BiologyArticle03 medical and health sciencesmedicineAnimalsHumansReceptorRNA metabolismCell NucleusAmyotrophic Lateral SclerosisRNA-Binding ProteinsNeurodegenerative Diseases3. Good healthCell biologyDNA-Binding ProteinsCell nucleus030104 developmental biologymedicine.anatomical_structureRNARNA-Binding Protein FUSNuclear transportNucleusFunction (biology)Cell
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Automated selection of homologs to track the evolutionary history of proteins

2018

Background The selection of distant homologs of a query protein under study is a usual and useful application of protein sequence databases. Such sets of homologs are often applied to investigate the function of a protein and the degree to which experimental results can be transferred from one organism to another. In particular, a variety of databases facilitates static browsing for orthologs. However, these resources have a limited power when identifying orthologs between taxonomically distant species. In addition, in some situations, for a given query protein, it is advantageous to compare the sets of orthologs from different specific organisms: this recursive step-wise search might give …

0301 basic medicineProteomeComputer scienceComputational biologyWeb toollcsh:Computer applications to medicine. Medical informaticsBiochemistryHomology (biology)Evolution Molecular03 medical and health sciences0302 clinical medicineProtein sequencingStructural BiologyHomologous chromosomeHumansDatabases ProteinMolecular Biologylcsh:QH301-705.5OrganismProtein functionMethodology ArticleApplied MathematicsProteinsA proteinComputer Science ApplicationsHomologyEvolutionary path030104 developmental biologyComputingMethodologies_PATTERNRECOGNITIONlcsh:Biology (General)Proteomelcsh:R858-859.7DNA microarraySoftware030217 neurology & neurosurgeryBMC Bioinformatics
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Skeletal organic matrices in molluscs: origin, evolution, diagenesis

2017

8 pages; International audience; The mollusc shell comprises a small amount of organic macromolecules, mostly proteins and polysaccharides, which, all together, constitute the skeletal organic matrix (SOM). In the recent years, the study of the SOM of about two dozens of mollusc species via transcriptomics and/or proteomics has led to the identification of hundreds of shell-associated proteins. This rapidly growing set of data allows several comparisons, shedding light on similarities and differences at the primary structure level and on some peculiar evolutionary mechanisms that may have affected SOM proteins. In addition, it constitutes a prerequisite for investigating the SOM repertoires…

0301 basic medicineProteomicsSubfossilProteinBiologyFunctional domainsProteomicsbiology.organism_classificationFossilizationSequencesTridacnaDiagenesisDiagenesis[SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry Molecular Biology/Biomolecules [q-bio.BM]03 medical and health sciences030104 developmental biology0302 clinical medicineOrder (biology)Evolutionary biologyMollusc shellShellIdentification (biology)14. Life underwaterMollusc030217 neurology & neurosurgery
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Elucidating the molecular physiology of lantibiotic NAI-107 production in Microbispora ATCC-PTA-5024.

2016

Background The filamentous actinomycete Microbispora ATCC-PTA-5024 produces the lantibiotic NAI-107, which is an antibiotic peptide effective against multidrug-resistant Gram-positive bacteria. In actinomycetes, antibiotic production is often associated with a physiological differentiation program controlled by a complex regulatory and metabolic network that may be elucidated by the integration of genomic, proteomic and bioinformatic tools. Accordingly, an extensive evaluation of the proteomic changes associated with NAI-107 production was performed on Microbispora ATCC-PTA-5024 by combining two-dimensional difference in gel electrophoresis, mass spectrometry and gene ontology approaches. R…

0301 basic medicineProteomicsfood.ingredientMetabolic networkATP-binding cassette transporterActinomycetes Antibiotic production Differential proteomics 2D-DIGE and mass spectrometry Metabolic pathways Regulatory network Molecular and cellular functionsBiologyBioinformaticsProteomicsGram-Positive Bacteria03 medical and health sciencesfoodBacteriocinsActinomycetesGenetics2D-DIGE and mass spectrometryDifferential proteomics2. Zero hungerGel electrophoresisLipid metabolismRegulatory networkbiology.organism_classificationDrug Resistance MultipleAnti-Bacterial AgentsActinobacteriaMetabolic pathway030104 developmental biologyBiochemistryMicrobisporaMetabolic pathwaysATP-Binding Cassette TransportersAntibiotic productionPeptidesBacteriaMolecular and cellular functionsBiotechnologyResearch ArticleBMC genomics
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Asthmatics with high levels of serum surfactant protein D have more severe disease.

2016

Pulmonary surfactant is a mixture of lipids and surfactant-specific proteins that covers the alveolar surface, as well as the terminal conducting airways, lowering the surface tension at the air–liquid interface during breathing. The involvement of pulmonary surfactant in the pathophysiology of asthma has been suggested. An interesting working hypothesis is that the surface tension of the peripheral airways is altered in asthma, because the inflammatory process affects the structure and function of surfactant, leading to excessive airway narrowing and features of air trapping. We explored whether serum levels of surfactant protein D (SP-D) in asthmatics are related to the severity of the di…

0301 basic medicinePulmonary and Respiratory MedicineAdultMalesurfactantStatistics as TopicSevere diseasemacromolecular substancesSettore MED/10 - Malattie Dell'Apparato RespiratorioSeverity of Illness Index03 medical and health sciences0302 clinical medicineSeverity of illnessMedicineHumansAnti-Asthmatic Agentsbusiness.industrySmall airwaysSurfactant protein DReproducibility of Resultsrespiratory systemMiddle AgedPulmonary Surfactant-Associated Protein DAsthmaRespiratory Function Tests030104 developmental biology030228 respiratory systemImmunologyBiomarker (medicine)FemalebusinessBiomarkersThe European respiratory journal
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Familial pulmonary arterial hypertension by KDR heterozygous loss of function

2020

Beyond the major gene BMPR2, several new genes predisposing to PAH have been identified during the last decade. Recently, preliminary evidence of the involvement of the KDR gene was found in a large genetic association study.We prospectively analysed the KDR gene by targeted panel sequencing in a series of 311 PAH patients referred to a clinical molecular laboratory for genetic diagnosis of PAH.Two index cases with severe PAH from two different families were found to carry a loss-of-function mutation in the KDR gene. These two index cases were clinically characterised by low diffusing capacity for carbon monoxide adjusted for haemoglobin (DLCOc) and interstitial lung disease. In one family,…

0301 basic medicinePulmonary and Respiratory MedicineMutationbusiness.industryInterstitial lung diseasemedicine.diseasemedicine.disease_causeMajor gene3. Good healthBMPR2[SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system03 medical and health sciences030104 developmental biology0302 clinical medicine030228 respiratory system[SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular systemDiffusing capacityImmunologyMedicinebusinessGeneLoss functionGenetic association
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Endogenous β-neurexins on axons and within synapses show regulated dynamic behavior

2021

Summary: Neurexins are key organizer molecules that regulate synaptic function and are implicated in autism and schizophrenia. β-neurexins interact with numerous cell adhesion and receptor molecules, but their neuronal localization remains elusive. Using single-molecule tracking and high-resolution microscopy to detect neurexin1β and neurexin3β in primary hippocampal neurons from knockin mice, we demonstrate that endogenous β-neurexins are present in fewer than half of excitatory and inhibitory synapses. Moreover, we observe a large extrasynaptic pool of β-neurexins on axons and show that axonal β-neurexins diffuse with higher surface mobility than those transiently confined within synapses…

0301 basic medicineQH301-705.5Green Fluorescent ProteinsNerve Tissue ProteinsEndogenyHippocampal formationNeurotransmissionGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciences0302 clinical medicineProtein DomainsAnimalsPremovement neuronal activityneurotransmissionBiology (General)synaptic functionCell adhesionelectron microscopyintegumentary systemChemistryCell MembranefungiGlutamate receptorcell adhesionproteaseAxonsCell biologyMice Inbred C57BL030104 developmental biologyEctodomainProteolysisSynapsesExcitatory postsynaptic potentialsingle-particle tracking030217 neurology & neurosurgeryCell Reports
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Neuroprotective effects of physical activity via the adaptation of astrocytes

2021

The multifold benefits of regular physical exercise have been largely demonstrated in human and animal models. Several studies have reported the beneficial effects of physical activity, both in peripheral tissues and in the central nervous system (CNS). Regular exercise improves cognition, brain plasticity, neurogenesis and reduces the symptoms of neurodegenerative diseases, making timeless the principle of “mens sana in corpore sano” (i.e., a healthy mind in a healthy body). Physical exercise promotes morphological and functional changes in the brain, acting not only in neurons but also in astrocytes, which represent the most numerous glial cells in the brain. The multiple effects of exerc…

0301 basic medicineQH301-705.5NeurogenesisCentral nervous systemPhysical exerciseReviewNeuroprotection03 medical and health sciences0302 clinical medicinePhysical Conditioning AnimalNeuroplasticityMedicineAnimalsHumansBiology (General)ExerciseNeuronsNeuronal Plasticitybusiness.industryNeurogenesisBrainGeneral MedicineNeuronAdaptation PhysiologicalBrain functions030104 developmental biologymedicine.anatomical_structureAstrocytesCatecholamineNeuronbusinessNeuroscience030217 neurology & neurosurgeryAstrocytemedicine.drug
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Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View

2017

Barber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malformation disorders caused by mutations in the <i>TWIST2</i> gene. Both are characterized by abnormalities in ectoderm-derived structures and cause a very unusual morphology of mainly the face in individuals with otherwise normal cognition and normal physical functioning. We studied the impact that the presence of BSS and AMS has on psychosocial functioning of affected individuals and their families, using their point of view to start with. We tabulated frequently asked questions from affected individuals and families, and a parent of an affected child and an affected adul…

0301 basic medicineQuality of lifemedicine.medical_specialtyAblepharon-macrostomia syndrome · Barber-Say syndrome · Body satisfaction · Patient perception · Psychosocial functioning · Quality of life · Questionnaire studymedia_common.quotation_subjectBody satisfaction030105 genetics & heredityHuman physical appearanceBARBER-SAY SYNDROMEPsychosocial functioning03 medical and health sciencesAblepharon macrostomia syndromeQuality of lifePhysical functioningPerceptionMedicine and Health SciencesmedicineGeneticsAblepharon-macrostomia syndrome; Barber-Say syndrome; Body satisfaction; Patient perception; Psychosocial functioning; Quality of life; Questionnaire study; Genetics; Genetics (clinical)Ablepharon-macrostomia syndromePatient perceptionPsychiatryGenetics (clinical)media_commonbusiness.industrymedicine.diseaseBody satisfactionQuestionnaire studyBarber-Say syndromeOriginal ArticlebusinessPsychosocialFACIAL DISFIGUREMENT
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Radial Glial Fibers Promote Neuronal Migration and Functional Recovery after Neonatal Brain Injury.

2018

Radial glia (RG) are embryonic neural stem cells (NSCs) that produce neuroblasts and provide fibers that act as a scaffold for neuroblast migration during embryonic development. Although they normally disappear soon after birth, here we found that RG fibers can persist in injured neonatal mouse brains and act as a scaffold for postnatal ventricular-subventricular zone (V-SVZ)-derived neuroblasts that migrate to the lesion site. This injury-induced maintenance of RG fibers has a limited time window during post-natal development and promotes directional saltatory movement of neuroblasts via N-cadherin-mediated cell-cell contacts that promote RhoA activation. Transplanting an N-cadherin-contai…

0301 basic medicineRHOAanimal structuresventricular-subventricular zoneBiology03 medical and health sciences0302 clinical medicinegait behaviorNeuroblastCell MovementNeuroblast migrationLateral VentriclesGeneticsmedicineAnimalsreproductive and urinary physiologyN-cadherinNeuronsneuronal migrationneuronal regenerationneonatal brain injuryCadherinEmbryogenesisfungiCell Biologypostnatal neurogenesisRecovery of FunctionCadherinsEmbryonic stem cellNeural stem cellRadial glial cell030104 developmental biologymedicine.anatomical_structurenervous systemAnimals NewbornBrain Injuriesbiology.proteinMolecular MedicinerhoA GTP-Binding ProteinNeuroscienceNeuroglia030217 neurology & neurosurgeryradial glial cellCell stem cell
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