Search results for "SoMe"

showing 10 items of 5114 documents

All-trans to 11-cis retinol isomerization in nuclear membrane fraction from bovine retinal pigment epithelium

1991

Abstract Isomerization of all-trans to 11-cis retinol has been studied in a membrane preparation from the nuclear fraction of bovine retinal pigment epithelium. When the nuclear membrane preparation deprived of endogenous retinoids is incubated with 4·5 μ m all-trans-retinol, the mean value calculated for the isomerase activity is 1·32 nmol 11-cis retinol formed hr−1 mg protein−1. Simultaneous formation of all-trans and 11-cis retinyl esters is also observed in the nuclear preparation. When assayed under the same experimental condition, RPE 150 000 g post-nuclear sediment shows about 70% of the isomerase activity found in the nuclear membrane fraction. Treatment of the nuclear membrane frac…

cis-trans-IsomerasesIsomerase activityNuclear EnvelopeDetergentsIsomeraseCellular and Molecular Neurosciencechemistry.chemical_compoundIsomerismChapsmedicineAnimalsBovine serum albuminNuclear membraneIsomerasesPigment Epithelium of EyeVitamin AChromatography High Pressure LiquidCell NucleusChromatographybiologyRetinolCholic AcidsSensory SystemsEnzyme assayOphthalmologyMembranemedicine.anatomical_structureSolubilityBiochemistrychemistrybiology.proteinCattleExperimental Eye Research
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The new version of the pictorial scale of Perceived Movement Skill Competence in Spanish children: Evidence of validity and reliability. [La nueva ve…

2019

The purpose of this study was to i) examine reliability and construct validity of the pictorial scale of Perceived Movement Skill Competence (PMSC) aligned to the third version of the Test of Gross Motor Development (TGMD-3) in a sample of Spanish children; and to ii) analyse the validity of the PMSC and children’s perceived motor competence (MC) according to gender. A convenience sample of 361 children (55.7% boys) between 4 and 11 years-old participated. The pictorial scale of PMSC (19 items) was administered (a random subsample repeated the PMSC twice). Test-retest reliability using Intraclass Correlation Coefficients and construct validity using a Bayesian Structural Equation Modeling a…

competencia motrizsomething in particular interest for Physical Education teachers. Resumen El objetivo de este estudio fue i) analizar la fiabilidad y validez de constructo de la escala pictográfica de Percepción de la Competencia Motriz (PMSC) alineada con la tercera versión del Test de Competencia Motriz Gruesa (TGMD) en una muestra de niños y niñas españoles y ii) analizar la validez de la PMSC y la percepción de competencia motriz (CM) de esos niños y niñas en función del género. Participó una muestra por conveniencia de 361 niños y niñas (55Intraclass correlationmostraron buenos ajustes. Según el géneropercepciónGross motor skilllcsh:Recreation. LeisureValidityPhysical Therapy Sports Therapy and Rehabilitationlcsh:GV1-1860perceptionniñezinformativasStructural equation modelingPhysical educationlcsh:GV557-1198.99503 medical and health sciences0302 clinical medicinegender030212 general & internal medicineCompetence (human resources)childhoodvalidationlcsh:Sportslocomotion and the total PMSC than girls (p < .05). These findings provide evidence of the construct validity and reliability of the two-factor PMSC aligned with the TGMD-3 in locomotion and ball skills. The Spanish version of the pictorial scale of PMSC would be useful for assessing perceived MC in Spanish childrencuestión interesante para los docentes de Educación Física.lcsh:Geography. Anthropology. RecreationConstruct validitySpanish versiony no informativas030229 sport sciencesmotor competencelcsh:Gvalidaciónde locomoción y la PMSC total que las niñas (p <PsychologySocial psychologygénerolos niños puntuaron más alto en percepción de habilidades de balónRICYDE. Revista internacional de ciencias del deporte
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Conformational investigation of α,β‐dehydropeptides. XV: N‐acetyl‐α,β‐dehydroamino acid N ′N ′‐dimethylamides: conformational properties from infrare…

2005

The FTIR spectra were analysed in the region of the nu(s)(N-H), AI(C=O) and nu(s)(Calpha=Cbeta) bands for a series of Ac-DeltaXaa-NMe2, where DeltaXaa = DeltaAla, (Z)-DeltaAbu, (Z)-DeltaLeu, (Z)-DeltaPhe and DeltaVal, to determine a predominant solution conformation of these alpha,beta-dehydropeptide-related molecules. Measurements were taken in CCl4, DCM and MeCN solutions. In the same way, spectra of saturated analogues Ac-Xaa-NMe2, where Xaa = Ala, Abu, Leu, Phe and Val, were investigated. To help interpret the spectroscopic results, conformational maps were calculated by the B3LYP/6-31+G** method. Also, the relative energies of all conformers of the dehydro compounds in vacuo as well as…

conformationStereochemistryProtein ConformationαPeptideamide/π(Ph) interactionBiochemistrySpectral linechemistry.chemical_compoundStructural BiologyAmideDrug DiscoverySpectroscopy Fourier Transform InfraredSide chainMoleculeC5 hydrogen bondFourier transform infrared spectroscopysolute/solvent interactionMolecular BiologyConformational isomerismβ‐dehydroamino acidsPharmacologychemistry.chemical_classificationChemistryHydrogen bondOrganic ChemistryGeneral MedicineModels TheoreticalAmidestheoretical IR frequenciesFTIR spectroscopyMolecular Medicinedensity functional theory calculationsPeptidesJournal of Peptide Science
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Epigenetic involvement in Hutchinson-Gilford progeria syndrome: a mini-review.

2013

Hutchinson-Gilford progeria syndrome (HGPS) is a rare human genetic disease that leads to a severe premature ageing phenotype, caused by mutations in the &lt;i&gt;LMNA&lt;/i&gt; gene. The &lt;i&gt;LMNA&lt;/i&gt; gene codes for lamin-A and lamin-C proteins, which are structural components of the nuclear lamina. HGPS is usually caused by a de novo &lt;i&gt;C1824T&lt;/i&gt; mutation that leads to the accumulation of a dominant negative form of lamin-A called progerin. Progerin also accumulates physiologically in normal ageing cells as a rare splicing form of lamin-A transcripts. From this perspective, HGPS cells seem to be good candidates for the study of the physiological mechanisms of ageing…

congenital hereditary and neonatal diseases and abnormalitiesAgingEuchromatinSettore BIO/11 - Biologia MolecolarecernaBiologySettore MED/13 - EndocrinologiaEpigenesis GeneticLMNAHistonesAdenosine TriphosphateProgeriaHGPS Progeria; epigenetics; chromatin; cernamedicineHumansEpigeneticsProtein PrecursorsChildEpigenesisGeneticsCell NucleusProgeriaintegumentary systemnutritional and metabolic diseasesNuclear ProteinsDNA Methylationmedicine.diseaseProgerinChromatin Assembly and DisassemblyLamin Type AChromatinCell biologySettore BIO/18 - GeneticaMicroRNAsSettore MED/03 - Genetica MedicaMutationHGPS ProgeriachromatinNuclear laminaGeriatrics and GerontologyepigeneticMi-2 Nucleosome Remodeling and Deacetylase ComplexGerontology
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Studies on the interaction of C1q,a subcomponent of the first component of complement, with porins fromSalmonella minnesotaincorporated into artifici…

1990

AbstractPurified outer membrane proteins (OMP) of Salmonella minnesota, Re-form, were incorporated into liposomes. These induced in macrophages a chemiluminescence signal identical to that of the intact Re-form. This signal was abolished by preincubation of porin-containing liposomes with purified C1q. Incorporation of isolated OMP into black lipid membranes (BLM) resulted in channel-formation which could not be inhibited by isolated C1q. Additionally, incubation of OMP-containing liposomes with BLM resulted in pore-formation within the BLM. This was amplified when lipid A was present within the liposomes. Preincubation of OMP-containing liposomes with purified C1q abolished pore-formation …

congenital hereditary and neonatal diseases and abnormalitiesLuminescenceMacrophageLipid BilayersBiophysicsSynthetic membranePorinschemical and pharmacologic phenomenaBiochemistryIon ChannelsMembrane PotentialsLipid AMiceSalmonellaStructural BiologyGeneticsAnimalsHumansBlack lipid membraneLipid bilayerMolecular BiologyC1qCells CulturedMice Inbred BALB CLiposomeurogenital systemChemistryComplement C1qMacrophagesElectric Conductivitynutritional and metabolic diseasesMembranes ArtificialCell BiologyLiposomeKineticsCholesterolMembraneMembrane proteinBiochemistryOuter membrane proteinPorinPhosphatidylcholinesbacteriaBacterial outer membraneBacterial Outer Membrane ProteinsFEBS Letters
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A girl with inverted triplication of chromosome 3q25.3 → q29 and multiple congenital anomalies consistent with 3q duplication syndrome

2005

We report a newborn girl with intrachromosomal triplication of 3q25.3 --> q29 (mosaicism) who died at the age of 3.5 weeks due to her malformations. She demonstrated disproportionate short stature with short limbs, a prominent and hairy forehead, thick eyebrows, synophrys, small upturned nose, full cheeks, micrognathia, and low set malformed and posteriorly rotated ears, short and webbed neck, hydrocephalus, Dandy-Walker malformation, spina bifida, complex heart defect (ventricular and atrial septal defect, malrotation, and interrupted aortic arch), omphalocele, polycystic kidneys, postaxial polydactyly of left hand, and generalized hirsutism; all signs have been associated with the dup(3q)…

congenital hereditary and neonatal diseases and abnormalitiesOmphaloceleSpina bifidaInterrupted aortic archAnatomyBiologymedicine.diseaseShort statureChromosome 3GeneticsmedicineWebbed neckmedicine.symptomTrisomyFull cheeksGenetics (clinical)American Journal of Medical Genetics Part A
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Deregulated Splicing Is a Major Mechanism of RNA-Induced Toxicity in Huntington's Disease.

2019

Huntington's disease (HD) is caused by an expanded CAG repeat in the huntingtin (HTT) gene, translating into an elongated polyglutamine stretch. In addition to the neurotoxic mutant HTT protein, the mutant CAG repeat RNA can exert toxic functions by trapping RNA-binding proteins. While few examples of proteins that aberrantly bind to mutant HTT RNA and execute abnormal function in conjunction with the CAG repeat RNA have been described, an unbiased approach to identify the interactome of mutant HTT RNA is missing. Here, we describe the analysis of proteins that preferentially bind mutant HTT RNA using a mass spectrometry approach. We show that (I) the majority of proteins captured by mutant…

congenital hereditary and neonatal diseases and abnormalitiesSpliceosomeHuntingtinRNA SplicingMutantRNA-binding proteinRNA-binding proteinsBiologygenetics [Huntington Disease]Structural Biologymental disordersmedicineAnimalsHumansddc:610genetics [RNA]Molecular BiologyGeneHuntingtin Proteingenetics [Spliceosomes]CAG repeat RNANeurodegenerationneurodegenerationRNAgenetics [Huntingtin Protein]medicine.diseasenervous system diseasesCell biologypolyglutamine diseaseHuntington Diseasenervous systemCardiovascular and Metabolic DiseasesRNA splicingSpliceosomesgenetics [RNA Splicing]RNATechnology PlatformsspliceosomeJournal of molecular biology
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WRN protects against topo I but not topo II inhibitors by preventing DNA break formation

2008

The Werner syndrome helicase/3′-exonuclease (WRN) is a major component of the DNA repair and replication machinery. To analyze whether WRN is involved in the repair of topoisomerase-induced DNA damage we utilized U2-OS cells, in which WRN is stably down-regulated (wrn-kd), and the corresponding wild-type cells (wrn-wt). We show that cells not expressing WRN are hypersensitive to the toxic effect of the topoisomerase I inhibitor topotecan, but not to the topoisomerase II inhibitor etoposide. This was shown by mass survival assays, colony formation and induction of apoptosis. Upon topotecan treatment WRN deficient cells showed enhanced DNA replication inhibition and S-phase arrest, whereas af…

congenital hereditary and neonatal diseases and abnormalitiesWerner Syndrome HelicaseDNA RepairCell SurvivalDNA damageDNA repairBlotting WesternApoptosisBone NeoplasmsBiologyTopoisomerase-I InhibitorBiochemistryArticleWerner Syndrome HelicaseColony-Forming Units AssayHistonesTumor Cells CulturedmedicineHumansTopoisomerase II InhibitorsEnzyme InhibitorsRNA Small InterferingeducationMolecular BiologyEtoposideOsteosarcomaeducation.field_of_studyRecQ HelicasesTopoisomeraseCell CycleDNA Breaksnutritional and metabolic diseasesCell BiologyAntineoplastic Agents PhytogenicMolecular biologyDNA Topoisomerases Type IIExodeoxyribonucleasesBromodeoxyuridineDNA Topoisomerases Type IDNA Replication InhibitionCancer researchbiology.proteinTopoisomerase I InhibitorsTopoisomerase-II InhibitorTopotecanCamptothecinmedicine.drugDNA Repair
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Substrate specificity overlap and interaction between Adrenoleukodystrophy protein (ALDP/ABCD1) and Adrenoleukodystrophy-related protein (ALDRP/ABCD2)

2011

X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by mutations in the ABCD1 gene, which encodes a peroxisomal member of the ATP-binding cassette (ABC) transporter subfamily D called ALDP. ALDP is supposed to function as a homodimer allowing the entry of CoA-esters of very-long chain fatty acids (VLCFA) into the peroxisome, the unique site of their β-oxidation. ALDP deficiency can be corrected by overexpression of ALDRP, its closest homolog. However, the exact nature of the substrates transported by ALDRP and its relationships with ALDP still remain unclear. To gain insight into the function of ALDRP, we used cell models allowing the induction in a dose-dependent m…

congenital hereditary and neonatal diseases and abnormalitiesendocrine system diseasesATP-binding cassette transportermembrane proteinsBiologyATP Binding Cassette Transporter Subfamily DBiochemistry03 medical and health sciences0302 clinical medicineabc transporterCell Line TumormedicineAnimals[SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Molecular BiologyBeta oxidationfatty acid oxidation030304 developmental biologychemistry.chemical_classification0303 health sciencesadrenoleukodystrophyabc transporter;fatty acid;fatty acid oxidation;membrane proteins;peroxisomes;adrenoleukodystrophyFatty AcidsNeurosciencesWild typeFatty acidnutritional and metabolic diseasesperoxisomesCell BiologyPeroxisomemedicine.diseaseLipidsRatschemistryMembrane proteinBiochemistry[ SDV.NEU ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Neurons and CognitionATP-Binding Cassette TransportersAdrenoleukodystrophy[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]fatty acidOxidation-Reduction030217 neurology & neurosurgeryPolyunsaturated fatty acid
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Evidence of oxidative stress in very long chain fatty acid--treated oligodendrocytes and potentialization of ROS production using RNA interference-di…

2011

X-linked adrenoleukodystrophy (X-ALD) and pseudo neonatal adrenoleukodystrophy (P-NALD) are neurodegenerative demyelinating diseases resulting from the functional loss of the peroxisomal ATP-binding cassette transporter D (ABCD1) and from single peroxisomal enzyme deficiency (Acyl-CoA oxidase1: ACOX1), respectively. As these proteins are involved in the catabolism of very long chain fatty acids (VLCFA: C24:0, C26:0), X-ALD and P-NALD patients are characterized by the accumulation of VLCFA in plasma and tissues. Since peroxisomes are involved in the metabolism of reactive oxygen species (ROS) and nitrogen species (RNS), we examined the impact of VLCFA on the oxidative status of 158N murine o…

congenital hereditary and neonatal diseases and abnormalitiesendocrine systemendocrine system diseasesVery long chain fatty acidBlotting Westernmedicine.disease_causeReal-Time Polymerase Chain ReactionTransfectionATP Binding Cassette Transporter Subfamily D Member 1Gas Chromatography-Mass SpectrometrySuperoxide dismutaseLipid peroxidationchemistry.chemical_compoundMicemedicinePeroxisomesAnimalsAdrenoleukodystrophyCells Culturedchemistry.chemical_classificationReactive oxygen speciesbiologyReverse Transcriptase Polymerase Chain ReactionGeneral NeuroscienceFatty Acidsnutritional and metabolic diseasesPeroxisomemedicine.diseaseFlow CytometryOligodendrogliaOxidative StressBiochemistrychemistryGene Knockdown Techniquesbiology.proteinACOX1AdrenoleukodystrophyATP-Binding Cassette TransportersRNA InterferenceAcyl-CoA OxidaseReactive Oxygen SpeciesOxidation-ReductionOxidative stressNeuroscience
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