Search results for "abnormal"

showing 10 items of 761 documents

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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An efficient Escherichia coli expression system for the production of a functional N-terminal domain of the T1R3 taste receptor.

2012

http://www.landesbioscience.com/; International audience; Sweet taste is mediated by a dimeric receptor composed of two distinct subunits, T1R2 and T1R3, whereas the T1R1/T1R3 receptor is involved in umami taste perception. The T1R1, T1R2, and T1R3 subunits are members of the small family of class C G protein-coupled receptors (GPCRs). The members of this family are characterized by a large N-terminal domain (NTD), which is structurally similar to bacterial periplasmic-binding proteins and contains the primary ligand-binding site. In a recent study, we described a strategy to produce a functional dimeric human T1R3-NTD. Although the protein was expressed as inclusion bodies (IBs) using the …

congenital hereditary and neonatal diseases and abnormalitiesTastesweetener[ SDV.AEN ] Life Sciences [q-bio]/Food and Nutritionumami receptorBioengineeringBiologymedicine.disease_causeApplied Microbiology and BiotechnologyInclusion bodieslaw.inventiontasteGPCRTaste receptorlawexpressionmedicineEscherichia coliFood and NutritionReceptorbacteriaEscherichia coliG protein-coupled receptorLigand binding assaysweet receptorGeneral MedicineBiochemistrysugarAlimentation et NutritionRecombinant DNA[SDV.AEN]Life Sciences [q-bio]/Food and Nutritionrecombinant proteinBiotechnology
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Bleomycin, a selective inhibitor of DNA-dependent DNA polymerase from oncogenic RNA viruses.

1972

Abstract Bleomycin, an antibiotic, inhibits the DNA-dependent DNA polymerase from Rauscher murine leukemia virus. Higher concentrations of BLM ∗ are required to inhibit it's RNA-dependent DNA polymerase. These inhibition effects of the non-competitive type are not altered by preincubation of the DNA with BLM. Under comparable conditions neither the DNA-dependent DNA polymerase activity from E. coli and mouse liver nor the DNA-dependent RNA polymerase activity from mouse lymphoma cells are affected by BLM.

congenital hereditary and neonatal diseases and abnormalitiesTime FactorsLymphomaDNA polymeraseHepatitis B virus DNA polymeraseUracil NucleotidesDNA polymerase IIBiophysicsRNA-dependent RNA polymeraseCytosine NucleotidesTritiumBiochemistryRauscher VirusCell LineBleomycinMiceEscherichia coliAnimalsMolecular BiologyPolymeraseDNA clampAntibiotics Antineoplasticbiologyurogenital systemnutritional and metabolic diseasesCell BiologyDNAMolecular biologyReverse transcriptaseKineticsReal-time polymerase chain reactionLiverDNA Nucleotidyltransferasesbiology.proteinRNABiochemical and biophysical research communications
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Bleomycin: Action on growth of oncogenic RNA viruses and on cell transformation

1975

Bleomycin (BLM) inhibits cell proliferation of noninfected chick embryo fibroblasts by blocking their DNA synthesis selectively. Chick embryo fibroblasts have beentransformed by Schmidt-Ruppin D strain of Rous Sarcoma Virus. Transformation has been determined by a focus assay. Foci formation is strongly reduced by BLM. Virus replication is inhibited by BLM in growing and confluent monolayer cells. This result might be explained by the observation that this drug reduces proliferation of growing and of confluent monolayer cells very sensitively. During the first 24 hours after infection the BLM inhibitory effect is more pronounced than in the case of BLM-application during the period 24--48 h…

congenital hereditary and neonatal diseases and abnormalitiesTime Factorsanimal structuresTranscription GeneticCell divisionCellChick EmbryoBiologyVirus ReplicationVirusBleomycinTranscription (biology)VirologymedicineAnimalsRNA VirusesCells CulturedRous sarcoma virusurogenital systemCell growthnutritional and metabolic diseasesRNADNAGeneral MedicineFibroblastsbiology.organism_classificationVirologyMolecular biologyCell Transformation Neoplasticmedicine.anatomical_structureAvian Sarcoma VirusesViral replicationembryonic structuresRNARNA ViralArchives of Virology
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Prader Willi Syndrome : Saliva quantification and culture in 10 patients

2008

Prader Willi Syndrome (PWS) is a relatively rare neurogenetic illness. It is of interest to dentists for its clinical characteristics. The aim of this study was to evaluate the amount of saliva and the presence of Streptococcus mutans (S mutans) in patients with this syndrome. We measured saliva stimulated by chewing paraffin tablets for 5 minutes, and cultured saliva samples in order to determine the colony-forming units (CFUs) of S mutans. The study was conducted in a group of 10 children with PWS at the Hospital Sant Joan de Déu, Barcelona. Results showed that patients with PWS had lower saliva secretion than considered normal for a standard population and most cultures presented a high …

congenital hereditary and neonatal diseases and abnormalitiesUNESCO::CIENCIAS MÉDICASnutritional and metabolic diseases:CIENCIAS MÉDICAS [UNESCO]nervous system diseases
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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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Activity and kinetics of DNA dependent DNA and RNA polymerases n xeroderma pigmentosum and in normal human skin.

1971

1. DNA dependent DNA polymerase (E.C.2.7.7.7) was prepared from human normal and from Xeroderma pigmentosum skin. 2. DNA polymerase from normal skin has the same Michaelis constant with native and denatured DNA as templateKm= 120 ± 11 µg DNA/ml, with differing maximum reaction velocities. 3. The enzyme from Xeroderma pigmentosum has the same Michaelis constant for denatured DNA as the enzyme from normal skin, but with native DNA as template, theKmvalue is lower (97.2 ± 9.8). The maximum reaction velocities of the Xeroderma pigmentosum enzyme with native resp. denatured DNA as template are the same. 4. DNA dependent RNA polymerases (E.C.2.7.7.6) from normal and Xeroderma pigmentosum skin wer…

congenital hereditary and neonatal diseases and abnormalitiesXeroderma pigmentosumDNA polymeraseDNA polymerase IIDermatologyTritiumEndonucleasechemistry.chemical_compoundmedicineHumansskin and connective tissue diseasesPolymeraseSkinCarbon IsotopesXeroderma PigmentosumDNA clampintegumentary systembiologynutritional and metabolic diseasesRNA NucleotidyltransferasesGeneral MedicineDNAClinical Enzyme Testsmedicine.diseaseMolecular biologyEnzyme ActivationchemistryDNA Nucleotidyltransferasesbiology.proteinPrimer (molecular biology)DNAArchiv fur dermatologische Forschung
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ChemInform Abstract: Tuning the Band Gap of PbCrO4Through High-Pressure: Evidence of Wide-to-Narrow Semiconductor Transitions.

2014

Commercial polycrystalline and cleaved platelets from natural PbCrO4 are studied in a diamond anvil cell at ≤ 21 GPa.

congenital hereditary and neonatal diseases and abnormalitiesbusiness.industryBand gapChemistryA diamondmacromolecular substancesGeneral MedicineSemiconductorstomatognathic systemhemic and lymphatic diseasesHigh pressureparasitic diseasesOptoelectronicsCrystallitebusinessChemInform
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Role of Adenosine Receptors in Rare Neurodegenerative Diseases with Motor Symptoms

2021

: The approval of istradefylline, an adenosine 2A receptor (A2AR) antagonist, as an addon treatment in adult patients with Parkinson’s disease by the Food and Drug Administration (FDA) and European Medicines Agency (EMA), is the latest proof of the importance of the adenosinergic system in the nervous system. Adenosine is an endogenous purine nucleoside with a role as a modulator of both neurotransmission and the inflammatory response. As such, the expression pattern of the 4 adenosine receptors (A1R, A2AR, A2BR and A3R) and the extracellular adenosine levels have attracted great interest in the pathogenesis and possible treatment of rare neurodegenerative diseases with motor symptoms. The…

congenital hereditary and neonatal diseases and abnormalitiesbusiness.industryNeurodegenerationNeurodegenerative DiseasesCell BiologyGeneral MedicineAdenosinergicIstradefyllinemedicine.diseaseBioinformaticsBiochemistryAdenosine receptorAdenosinechemistry.chemical_compoundchemistrymedicineSpinocerebellar ataxiaAmyotrophic lateral sclerosisbusinessMolecular BiologyMachado–Joseph diseasemedicine.drugCurrent Protein & Peptide Science
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Additional file 1 of Long-term LVEF trajectories in patients with type 2 diabetes and heart failure: diabetic cardiomyopathy may underlie functional …

2020

Additional file 1: Figure S1. Distribution of the number of echocardiograms performed per patient. Number of echocardiograms per patient ranged from 2 (minimum inclusion criteria) to 9 (patients with all the per protocol pre-specified echocardiograms).

congenital hereditary and neonatal diseases and abnormalitiescardiovascular systemcardiovascular diseasescirculatory and respiratory physiology
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