Search results for "AMINO ACID"

showing 10 items of 3965 documents

Missense Mutations of Human Hsp60: A Computational Analysis to Unveil Their Pathological Significance

2020

Two chaperonopathies have been linked to mutations in the human hsp60 (hHsp60; HSPD1) gene, but other existing variants might cause diseases, even if there is no comprehensive information about this possibility. To fill this vacuum, which might be at the basis of misdiagnoses or simply ignorance of chaperonopathies in patients who would benefit by proper identification of their ailments, we searched the sequenced human genomes available in public databases to determine the range of missense mutations in the single hsp60 gene. A total of 224 missense mutations were identified, including those already characterized. Detailed examination of these mutations was carried out to assess their possi…

0301 basic medicineHsp60 gene variantlcsh:QH426-470chaperoning systemMutantunderdiagnosed chaperonopathiesDiseaseBiology03 medical and health sciences0302 clinical medicinehuman genomeGeneticsMissense mutationGeneGenetics (clinical)Hsp60 genetic chaperonopathieOriginal ResearchGeneticschemistry.chemical_classificationHsp60 genetic chaperonopathieshuman genomesHsp60 gene variantsAmino acidlcsh:Genetics030104 developmental biologychemistry030220 oncology & carcinogenesisMolecular MedicineHSP60Human genomeIdentification (biology)Frontiers in Genetics
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Release of free amino acids upon oxidation of peptides and proteins by hydroxyl radicals

2017

Hydroxyl radical-induced oxidation of proteins and peptides can lead to the cleavage of the peptide, leading to a release of fragments. Here, we used high-performance liquid chromatography tandem mass spectrometry (HPLC-MS/MS) and pre-column online ortho-phthalaldehyde (OPA) derivatization-based amino acid analysis by HPLC with diode array detection and fluorescence detection to identify and quantify free amino acids released upon oxidation of proteins and peptides by hydroxyl radicals. Bovine serum albumin (BSA), ovalbumin (OVA) as model proteins, and synthetic tripeptides (comprised of varying compositions of the amino acids Gly, Ala, Ser, and Met) were used for reactions with hydroxyl ra…

0301 basic medicineHydroxyl radicals010504 meteorology & atmospheric sciencesStereochemistryRadicalPeptideTripeptideProtein oxidation01 natural sciencesBiochemistryAnalytical Chemistry03 medical and health sciencesAspartic acidOxidationBovine serum albuminAmino Acids0105 earth and related environmental scienceschemistry.chemical_classificationAlanineChromatographybiologyHydroxyl RadicalProteinsAmino acidHPLC-MS030104 developmental biologychemistrybiology.proteinPeptidesReactive Oxygen SpeciesAmino acid analysisOxidation-ReductionResearch PaperAnalytical and Bioanalytical Chemistry
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Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.

2018

International audience; Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies. Following the identification of the causative gene (KMT2A) in 2012, only 31 cases of WSS have been described precisely in the literature. We report on 33 French individuals with a KMT2A mutation confirmed by targeted gene sequencing, high-throughput sequencing or exome sequencing. Patients' molecular and clinical features were recorded and compared with the literature data. On the molecular level, we found 29 novel mutations. We observed autosomal dominant transmission of WSS in 3 fami…

0301 basic medicineHypertrichosisMalePediatrics[SDV]Life Sciences [q-bio]MESH: Magnetic Resonance ImagingPathognomonicMESH: ChildIntellectual disabilityMESH: SyndromeChildMESH: High-Throughput Nucleotide SequencingGenetics (clinical)Exome sequencingComputingMilieux_MISCELLANEOUSbiologyWiedemann-Steiner syndromeHigh-Throughput Nucleotide SequencingSyndromeKMT2AMESH: Amino Acid SubstitutionMagnetic Resonance Imaginghypertrichosis3. Good healthhairinessKMT2APhenotypeWiedemann-Steiner syndromeChild Preschoolcardiovascular systemFemaleDisease SusceptibilityFrancemedicine.symptomMESH: Tomography X-Ray ComputedMyeloid-Lymphoid Leukemia Proteinmedicine.medical_specialtyMESH: MutationAdolescentMESH: Disease SusceptibilityMESH: PhenotypeShort statureMESH: Intellectual Disability03 medical and health sciencesHypertrichosis cubitiIntellectual DisabilityGeneticsmedicineHumanshistone methylationMESH: Adolescent[SDV.GEN]Life Sciences [q-bio]/GeneticsMESH: Humansbusiness.industryMESH: Child PreschoolMESH: Histone-Lysine N-MethyltransferaseHistone-Lysine N-Methyltransferasemedicine.diseaseMESH: MaleMESH: France030104 developmental biology[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsAmino Acid SubstitutionMESH: Myeloid-Lymphoid Leukemia ProteinMutationbiology.proteinbusinessTomography X-Ray ComputedMESH: FemaleClinical genetics
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Plant sterols and human gut microbiota relationship: An in vitro colonic fermentation study

2018

Abstract Due to the preventive effect that plant sterols could have in relation to colon cancer and the scarce information available on plant sterols-gut microbiota interaction, we evaluate the sterols influence upon gut microbiota and viceversa. In vitro colonic fermentation using a residue from the in vitro digestion of a plant sterol-enriched beverage were used. Faecal sterols by GC–MS, and gut microbiota using DNA sequencing were determined. A higher plant sterols metabolism and lower for cholesterol in presence of plant sterols was occurred. Neutral plant sterols decreased and its metabolites increased during fermentation times. The global changes in microbial communities were associat…

0301 basic medicineIn vitro fermentationMedicine (miscellaneous)Gut microbiotaBiologyGut floradigestive systemPlant sterolsBacterial DNA sequencing03 medical and health scienceschemistry.chemical_compound0302 clinical medicinepolycyclic compoundsTX341-641Food sciencePhylotypeNutrition and DieteticsNutrition. Foods and food supplyCholesterolGC/MSfungifood and beveragesMetabolismbiology.organism_classificationIn vitroSterol030104 developmental biologychemistry030220 oncology & carcinogenesislipids (amino acids peptides and proteins)FermentationPlant sterolsFood ScienceJournal of Functional Foods
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A unique view of SARS-CoV-2 through the lens of ORF8 protein

2021

Immune evasion is one of the unique characteristics of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) attributed to its ORF8 protein. This protein modulates the adaptive host immunity through down-regulation of MHC-1 (Major Histocompatibility Complex) molecules and innate immune responses by surpassing the host's interferon-mediated antiviral response. To understand the host's immune perspective concerning the ORF8 protein, a comprehensive study of the ORF8 protein and mutations possessed by it have been performed. Chemical and structural properties of ORF8 proteins from different hosts, such as human, bat, and pangolin, suggest that the ORF8 of SARS-CoV-2 is much closer to OR…

0301 basic medicineInfectious MedicinePhysicochemical propertiesInfektionsmedicinHealth InformaticsGenome ViralMutational hotspotsMajor histocompatibility complexArticleEvolution Molecular03 medical and health sciences0302 clinical medicineImmune systemPhylogeneticsHumansPhylogenySequence (medicine)chemistry.chemical_classificationGeneticsInnate immune systembiologySARS-CoV-2Host (biology)COVID-19ORF8biochemical phenomena metabolism and nutritionORF8 evolutionComputer Science ApplicationsAmino acidPhylogenetics030104 developmental biologychemistrybiology.proteinSample collection030217 neurology & neurosurgeryComputers in Biology and Medicine
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A presumed antagonistic LPS identifies distinct functional organization of TLR4 in mouse microglia

2017

Microglia as principle innate immune cells of the central nervous system (CNS) are the first line of defense against invading pathogens. They are capable of sensing infections through diverse receptors, such as Toll-like receptor 4 (TLR4). This receptor is best known for its ability to recognize bacterial lipopolysaccharide (LPS), a causative agent of gram-negative sepsis and septic shock. A putative, naturally occurring antagonist of TLR4 derives from the photosynthetic bacterium Rhodobacter sphaeroides. However, the antagonistic potential of R. sphaeroides LPS (Rs-LPS) is no universal feature, since several studies suggested agonistic rather than antagonistic actions of this molecule depe…

0301 basic medicineInnate immune systemLipopolysaccharideMicrogliaCD14Biology3. Good healthCell biology03 medical and health sciencesCellular and Molecular Neurosciencechemistry.chemical_compound030104 developmental biologymedicine.anatomical_structureImmune systemNeurologychemistryTRIFImmunologyTLR4medicinelipids (amino acids peptides and proteins)ReceptorGlia
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Correction for Chakroun et al., Bacterial Vegetative Insecticidal Proteins (Vip) from Entomopathogenic Bacteria

2016

Entomopathogenic bacteria produce insecticidal proteins that accumulate in inclusion bodies or parasporal crystals (such as the Cry and Cyt proteins) as well as insecticidal proteins that are secreted into the culture medium. Among the latter are the Vip proteins, which are divided into four families according to their amino acid identity. The Vip1 and Vip2 proteins act as binary toxins and are toxic to some members of the Coleoptera and Hemiptera. The Vip1 component is thought to bind to receptors in the membrane of the insect midgut, and the Vip2 component enters the cell, where it displays its ADP-ribosyltransferase activity against actin, preventing microfilament formation. Vip3 has no …

0301 basic medicineInsecticidesInsectaProtein ConformationBacterial ToxinsDrug ResistanceReviewsProtein EngineeringMicrobiology03 medical and health sciencesBacterial ProteinsBotanyTable (landform)AnimalsAmino Acid SequenceAuthor CorrectionPest Control BiologicalMolecular BiologyConserved SequencebiologyBacteriafungibiology.organism_classificationPlants Genetically Modified030104 developmental biologyInfectious DiseasesBacteria
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Bovine plasma hydrolysates' iron chelating capacity and its potentiating effect on ferritin synthesis in Caco-2 cells.

2020

The low bioavailability of iron is one factor that contributes to its deficiency in the human diet. For this reason, it is necessary to find compounds that can form iron chelates so that these can be added to foods that contain iron to improve its bioavailability at the intracellular level. In this study, we assessed the relationship between bovine plasma hydrolysates' iron chelating ability and their degree of hydrolysis. The hydrolysate with the highest chelating capacity was fractionated and each fraction's chelating capacity was subsequently assessed. Each fraction's effect on ferritin synthesis in Caco-2 cells was also determined. The results showed that bovine plasma hydrolysates with…

0301 basic medicineIronBiological AvailabilityIron Chelating AgentsHydrolysate03 medical and health sciencesHydrolysisPlasma0404 agricultural biotechnologyAnimalsHumansChelationSolubilityAmino AcidsChelating Agentschemistry.chemical_classification030109 nutrition & dieteticsbiologyChemistryHydrolysis04 agricultural and veterinary sciencesGeneral Medicine040401 food scienceBioavailabilityAmino acidDietFerritinBiochemistryCaco-2Ferritinsbiology.proteinCattleCaco-2 CellsFood ScienceFoodfunction
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Zinc(II) Complexes of Amino Acids as New Active Ingredients for Anti-Acne Dermatological Preparations.

2021

Zinc compounds have a number of beneficial properties for the skin, including antimicrobial, sebostatic and demulcent activities. The aim of the study was to develop new anti-acne preparations containing zinc–amino acid complexes as active ingredients. Firstly, the cytotoxicity of the zinc complexes was evaluated against human skin fibroblasts (1BR.3.N cell line) and human epidermal keratinocyte cell lines, and their antimicrobial activity was determined against Cutibacterium acnes. Then, zinc complexes of glycine and histidine were selected to create original gel formulations. The stability (by measuring pH, density and viscosity), microbiological purity (referring to PN-EN ISO standards) …

0301 basic medicineKeratinocytesGlycineSkin Creamchemistry.chemical_elementHuman skinZincCatalysisArticleCell LineInorganic Chemistrylcsh:Chemistry030207 dermatology & venereal diseases03 medical and health sciences0302 clinical medicineantibacterial activityAcne VulgarismedicineHumansHistidinePhysical and Theoretical Chemistryzinc(II) complexesMolecular Biologylcsh:QH301-705.5acneSpectroscopyAcneHistidineSkinActive ingredientamino acidsChromatographyOrganic Chemistryskin toleranceGeneral MedicinePropionibacteriaceaeAntimicrobialmedicine.diseaseComputer Science ApplicationsAnti-Bacterial AgentsZinc030104 developmental biologychemistrylcsh:Biology (General)lcsh:QD1-999Zinc CompoundsGlycinecytotoxicityAntibacterial activityInternational journal of molecular sciences
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The cyto-protective effects of LH on ovarian reserve and female fertility during exposure to gonadotoxic alkylating agents in an adult mouse model.

2021

Abstract STUDY QUESTION Does LH protect mouse oocytes and female fertility from alkylating chemotherapy? SUMMARY ANSWER LH treatment before and during chemotherapy prevents detrimental effects on follicles and reproductive lifespan. WHAT IS KNOWN ALREADY Chemotherapies can damage the ovary, resulting in premature ovarian failure and reduced fertility in cancer survivors. LH was recently suggested to protect prepubertal mouse follicles from chemotoxic effects of cisplatin treatment. STUDY DESIGN, SIZE, DURATION This experimental study investigated LH effects on primordial follicles exposed to chemotherapy. Seven-week-old CD-1 female mice were randomly allocated to four experimental groups: C…

0301 basic medicineLHAlkylating Agentsfertility preservationmedia_common.quotation_subjectDNA repair LH cancer chemotherapy fertility preservation follicle protection ovoprotectionDNA repairOvaryMice SCIDBiologychemotherapyAndrology03 medical and health sciencesMice0302 clinical medicineOvarian FollicleMice Inbred NODPregnancyFollicular phasemedicineAnimalsHumanscancerFertility preservationOvarian follicleOvarian reserveOvarian ReserveOvulationmedia_commonReproductive Biology030219 obstetrics & reproductive medicineRehabilitationObstetrics and GynecologyOriginal ArticlesOocytemedicine.diseaseAcademicSubjects/MED00905Premature ovarian failure030104 developmental biologymedicine.anatomical_structureReproductive Medicinefollicle protectionovoprotectionlipids (amino acids peptides and proteins)FemaleHuman reproduction (Oxford, England)
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