Search results for "Forma"

showing 10 items of 34540 documents

Are mutations in the dhrs9 gene causally linked to epilepsy? A case report

2020

The DHRS9 gene is involved in several pathways including the synthesis of allopregnanolone from progesterone. Allopregnanolone is a positive modulator of gamma aminobutyric acid (GABA) action and plays a role in the control of neuronal excitability and seizures. Whole-exome sequencing performed on a girl with an early onset epilepsy revealed that she was a compound heterozygote for two novel missense mutations of the DHRS9 gene likely to disrupt protein function. No previous studies have reported the implication of this gene in epilepsy. We discuss a new potential pathogenic mechanism underlying epilepsy in a child, due to a defective progesterone pathway.

0301 basic medicineCase ReportCompound heterozygosityBioinformaticsAllopregnanolone DHRS9 Exome GABA NGS Temporal lobe epilepsygamma-Aminobutyric acid03 medical and health scienceschemistry.chemical_compoundEpilepsyGABA0302 clinical medicinemedicineMissense mutationGeneExomelcsh:R5-920business.industryMechanism (biology)DHRS9AllopregnanoloneallopregnanoloneGeneral Medicinetemporal lobe epilepsymedicine.disease030104 developmental biologychemistryNGSlcsh:Medicine (General)business030217 neurology & neurosurgeryexomemedicine.drug
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Development of Novel Peptide-Based Michael Acceptors Targeting Rhodesain and Falcipain-2 for the Treatment of Neglected Tropical Diseases (NTDs)

2017

This paper describes the development of a class of peptide-based inhibitors as novel antitrypanosomal and antimalarial agents. The inhibitors are based on a characteristic peptide sequence for the inhibition of the cysteine proteases rhodesain of Trypanosoma brucei rhodesiense and falcipain-2 of Plasmodium falciparum. We exploited the reactivity of novel unsaturated electrophilic functions such as vinyl-sulfones, -ketones, -esters, and -nitriles. The Michael acceptors inhibited both rhodesain and falcipain-2, at nanomolar and micromolar levels, respectively. In particular, the vinyl ketone 3b has emerged as a potent rhodesain inhibitor (k2nd = 67 × 106 M-1 min-1), endowed with a picomolar b…

0301 basic medicineCathepsin LAntimalarialPeptideHeLa Cell01 natural sciencesCysteine Proteinase InhibitorDipeptideDrug DiscoveryPeptide sequencechemistry.chemical_classificationTrypanocidal AgentbiologyNeglected DiseasesStereoisomerismDipeptidesTrypanocidal AgentsMAJOR CYSTEINE PROTEASE PLASMODIUM-FALCIPARUM TRYPANOSOMA-BRUCEI CONFORMATIONAL-ANALYSIS BIOLOGICAL EVALUATION HIGHLY POTENT VINYL-ESTER INHIBITORS PEPTIDOMIMETICS SUBSTRATEMolecular Docking SimulationCysteine EndopeptidasesBiochemistryMolecular MedicineHumanProteasesNeglected DiseaseStereochemistryPhenylalaninePlasmodium falciparumTrypanosoma brucei bruceiCysteine Proteinase InhibitorsMolecular Dynamics SimulationTrypanosoma bruceiAntimalarialsStructure-Activity Relationship03 medical and health sciencesparasitic diseasesHumansStructure–activity relationship010405 organic chemistryDrug Discovery3003 Pharmaceutical ScienceHydrogen BondingTrypanosoma brucei rhodesiensePlasmodium falciparumbiology.organism_classificationMalaria0104 chemical sciencesTrypanosomiasis African030104 developmental biologychemistryCarbamateCarbamatesCysteine EndopeptidaseHeLa CellsCysteineJournal of Medicinal Chemistry
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Comparative study of eco- and cytotoxicity during biotransformation of anthraquinone dye Alizarin Blue Black B in optimized cultures of microscopic f…

2017

The aim of this study was to select optimal conditions (C and N sources, initial pH and temperature) for biodecolorization of 0.03% anthraquinone dye Alizarin Blue Black B (ABBB) by microscopic fungi: Haematonectria haematococca BwIII43, K37 and Trichoderma harzianum BsIII33. The phenolic compounds, phytotoxicity (Lepidium sativum L.), biotoxicity (Microtox), cytotoxicity and yeast viability assay were performed to determine the extent of ABBB detoxification. Biodecolorization and detoxification of 0.03% ABBB in H. haematococca BwIII43 and T. harzianum BsIII33 cultures was correlated with extracellular oxidoreductases activity. In turn, secondary products, toxic to human fibroblasts and res…

0301 basic medicineCell SurvivalHealth Toxicology and MutagenesisAnthraquinones010501 environmental sciencesAlizarin01 natural sciencesLepidium sativumCell LineWater Purification03 medical and health scienceschemistry.chemical_compoundBiotransformationYeastsToxicity TestsHumansBiodecolorizationViability assayColoring AgentsCytotoxicityBiotransformationYeast model0105 earth and related environmental sciencesbiologyProoxidative toxicityPublic Health Environmental and Occupational HealthTrichoderma harzianumGeneral Medicinebiology.organism_classificationPollutionYeastHaematonectria haematococcaBiodegradation Environmental030104 developmental biologyBiochemistrychemistryPhytotoxicityDetoxificationOxidoreductasesOxidation-ReductionWater Pollutants ChemicalEcotoxicology and Environmental Safety
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Role of TCTP for Cellular Differentiation and Cancer Therapy

2017

The translationally controlled tumor protein (TCTP) is a highly conserved protein that is regulated due to a high number of extracellular stimuli. TCTP has an important role for cell cycle and normal development. On the other side, tumor reversion and malignant transformation have been associated with TCTP. TCTP has been found among the 12 genes that are differentially expressed during mouse oocyte maturation, and an overexpression of this gene was reported in a wide variety of different cancer types. Its antiapoptotic effect is indicated by the interaction with several proapoptotic proteins of the Bcl-2 family and the p53 tumor suppressor protein. In this article, we draw attention to the …

0301 basic medicineCell growthCellular differentiationCancerBiologyCell cyclemedicine.diseaseMalignant transformation03 medical and health sciences030104 developmental biology0302 clinical medicineDifferentiation therapy030220 oncology & carcinogenesisCancer cellTranslationally-controlled tumor proteinmedicineCancer research
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How repair-or-dispose decisions under stress can initiate disease progression

2020

Summary Glia, the helper cells of the brain, are essential in maintaining neural resilience across time and varying challenges: By reacting to changes in neuronal health glia carefully balance repair or disposal of injured neurons. Malfunction of these interactions is implicated in many neurodegenerative diseases. We present a reductionist model that mimics repair-or-dispose decisions to generate a hypothesis for the cause of disease onset. The model assumes four tissue states: healthy and challenged tissue, primed tissue at risk of acute damage propagation, and chronic neurodegeneration. We discuss analogies to progression stages observed in the most common neurodegenerative conditions and…

0301 basic medicineCell signalingDisease onsetBioinformaticsSystems biology02 engineering and technologyArticle03 medical and health sciencesMathematical BiosciencesTissue damageMedicineddc:610Systems NeuroscienceResilience (network)lcsh:ScienceSystems neuroscienceMultidisciplinarybusiness.industrySystems BiologyNeurodegenerationDisease progression021001 nanoscience & nanotechnologymedicine.diseaseCrosstalk (biology)030104 developmental biologylcsh:Q0210 nano-technologybusinessNeuroscienceNeuroscience
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Circadian Rhythm in Adipose Tissue: Novel Antioxidant Target for Metabolic and Cardiovascular Diseases

2020

Obesity is a major risk factor for most metabolic and cardiovascular disorders. Adipose tissue is an important endocrine organ that modulates metabolic and cardiovascular health by secreting signaling molecules. Oxidative stress is a common mechanism associated with metabolic and cardiovascular complications including obesity, type 2 diabetes, and hypertension. Oxidative stress can cause adipose tissue dysfunction. Accumulating data from both humans and experimental animal models suggest that adipose tissue function and oxidative stress have an innate connection with the intrinsic biological clock. Circadian clock orchestrates biological processes in adjusting to daily environmental changes…

0301 basic medicineCell signalingPhysiologyClinical BiochemistryCircadian clockAdipose tissueAdipokineReviewBioinformaticsmedicine.disease_causeBiochemistrysirtuin 103 medical and health sciences0302 clinical medicineAdipokinesclock genesMedicineoxidative stressCircadian rhythmbranched-chain amino acidsMolecular Biologyendothelial nitric oxide synthasebiologySirtuin 1business.industrylcsh:RM1-950Cell BiologyCLOCK030104 developmental biologylcsh:Therapeutics. Pharmacologybiology.proteinbusiness030217 neurology & neurosurgeryOxidative stressAntioxidants
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Alkaline phosphatase dual-binding sites for collagen dictate cell migration and microvessel assembly in vitro

2020

Interactions between cell types, growth factors, and extracellular matrix components involved in angiogenesis are crucial for new vessel formation leading to tissue regeneration. This study investigated whether cocultures of fibroblasts and endothelial cells (ECs; from macro- or microvasculature) play a role in the formation of microvessel-like structures by ECs, as well as modulate fibroblast differentiation and growth factors production (vascular endothelial cell growth factor, basic fibroblast growth factor, active transforming growth factor-beta 1, and interleukin-8), which are important for vessel sprouting and maturation. Data obtained revealed that in vitro coculture systems of fibro…

0301 basic medicineCell typeAngiogenesisProtein ConformationBasic fibroblast growth factorNeovascularization PhysiologicIn Vitro TechniquesBiochemistryExtracellular matrix03 medical and health scienceschemistry.chemical_compound0302 clinical medicineCell MovementmedicineHumansFibroblastMolecular BiologyMicrovesselCells CulturedCell ProliferationBinding SitesChemistryHealth sciences Medical and Health sciencesCiências médicas e da saúdeCell migrationCell DifferentiationCell BiologyFibroblastsAlkaline PhosphataseCell biology030104 developmental biologymedicine.anatomical_structure030220 oncology & carcinogenesisMicrovesselsMedical and Health sciencesAlkaline phosphataseCollagenEndothelium VascularCiências da Saúde Ciências médicas e da saúde
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Deregulated miRNAs in bone health: Epigenetic roles in osteoporosis.

2019

MicroRNA (miRNA) has shown to enhance or inhibit cell proliferation, differentiation and activity of different cell types in bone tissue. The discovery of miRNA actions and their targets has helped to identify them as novel regulations actors in bone. Various studies have shown that miRNA deregulation mediates the progression of bone-related pathologies, such as osteoporosis. The present review intends to give an exhaustive overview of miRNAs with experimentally validated targets involved in bone homeostasis and highlight their possible role in osteoporosis development. Moreover, the review analyzes miRNAs identified in clinical trials and involved in osteoporosis.

0301 basic medicineCell typeHistologyPhysiologyEndocrinology Diabetes and MetabolismOsteoporosis030209 endocrinology & metabolismBiologyBone tissueBioinformaticsBone healthBone and BonesEpigenesis Genetic03 medical and health sciences0302 clinical medicineOsteoclastSettore BIO/13 - Biologia ApplicatamicroRNAmedicineAnimalsHumansEpigeneticsmiRNA Bone Bone diseaseOsteoblastsOsteoblastCell Differentiationmedicine.diseaseMicroRNAs030104 developmental biologymedicine.anatomical_structureGene Expression RegulationOsteoporosisBone
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Brain Distribution and Modulation of Neuronal Excitability by Indicaxanthin From Opuntia Ficus Indica Administered at Nutritionally-Relevant Amounts

2018

Several studies have recently investigated the role of nutraceuticals in complex pathophysiological processes such as oxidative damages, inflammatory conditions and excitotoxicity. In this regard, the effects of nutraceuticals on basic functions of neuronal cells, such as excitability, are still poorly investigated. For this reason, the possible modulation of neuronal excitability by phytochemicals (PhC) could represent an interesting field of research given that excitotoxicity phenomena are involved in neurodegenerative alterations leading, for example, to Alzheimer's disease. The present study was focused on indicaxanthin from Opuntia ficus indica, a bioactive betalain pigment, with a pro…

0301 basic medicineCerebellumAgingCognitive NeuroscienceExcitotoxicityHippocampusindicaxanthinBiologyHippocampal formationmedicine.disease_causeNeuroprotectionmicroiontophoresisbrain localizationlcsh:RC321-57103 medical and health scienceschemistry.chemical_compound0302 clinical medicineexcitabilitymedicinelcsh:Neurosciences. Biological psychiatry. NeuropsychiatryOriginal ResearchnutraceuticalselectrophysiologyCortex (botany)brain localization; electrophysiology; excitability; indicaxanthin; microiontophoresis; neuroprotection; nutraceuticals030104 developmental biologymedicine.anatomical_structurechemistrynervous systemmicroiontophoresineuroprotectionNeuronIndicaxanthinNeuroscience030217 neurology & neurosurgeryNeuroscienceFrontiers in Aging Neuroscience
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The Hidden Charm of Life

2019

Synthetic biology is an engineering view on biotechnology, which has revolutionized genetic engineering. The field has seen a constant development of metaphors that tend to highlight the similarities of cells with machines. I argue here that living organisms, particularly bacterial cells, are not machine-like, engineerable entities, but, instead, factory-like complex systems shaped by evolution. A change of the comparative paradigm in synthetic biology from machines to factories, from hardware to software, and from informatics to economy is discussed.

0301 basic medicineCharm (programming language)Computer scienceengineeringComplex system050905 science studiesliving systemGeneral Biochemistry Genetics and Molecular BiologyField (computer science)03 medical and health sciencesSynthetic biologyLiving systemEngineeringlcsh:ScienceEcology Evolution Behavior and SystematicsSynthetic biology05 social sciencesPaleontologyData science030104 developmental biologySpace and Planetary ScienceInformaticsPerspectivelcsh:Qsynthetic biology0509 other social sciencesBiotechnologybiotechnologyLife
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