0000000000022365

AUTHOR

Nuria Paricio

0000-0001-7193-2532

showing 39 related works from this author

Oxidative modification impairs SERCA activity in Drosophila and human cell models of Parkinson's disease

2021

DJ-1 is a causative gene for familial Parkinson's disease (PD) with different functions, standing out its role against oxidative stress (OS). Accordingly, PD model flies harboring a mutation in the DJ-1β gene (the Drosophila ortholog of human DJ-1) show high levels of OS markers like protein carbonylation, a common post-translational modification that may alter protein function. To increase our understanding of PD pathogenesis as well as to discover potential therapeutic targets for pharmacological intervention, we performed a redox proteomic assay in DJ-1β mutant flies. Among the proteins that showed increased carbonylation levels in PD model flies, we found SERCA, an endoplasmic reticulum…

0301 basic medicineSERCAProteomeProtein CarbonylationProtein Deglycase DJ-1MutantOxidative phosphorylationmedicine.disease_causeSarcoplasmic Reticulum Calcium-Transporting ATPasesAnimals Genetically ModifiedProtein CarbonylationNeuroblastoma03 medical and health sciences0302 clinical medicinemedicineAnimalsDrosophila ProteinsHumansMolecular BiologyMutationActivator (genetics)ChemistryEndoplasmic reticulumfungiParkinson DiseaseCell biologyDisease Models AnimalOxidative StressDrosophila melanogasterPhenotype030104 developmental biologyMutationMolecular MedicineCalciumOxidation-Reduction030217 neurology & neurosurgeryOxidative stressBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
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Evolutionary conserved role of eukaryotic translation factor eIF5A in the regulation of actin-nucleating formins

2017

AbstractElongation factor eIF5A is required for the translation of consecutive prolines, and was shown in yeast to translate polyproline-containing Bni1, an actin-nucleating formin required for polarized growth during mating. Here we show that Drosophila eIF5A can functionally replace yeast eIF5A and is required for actin-rich cable assembly during embryonic dorsal closure (DC). Furthermore, Diaphanous, the formin involved in actin dynamics during DC, is regulated by and mediates eIF5A effects. Finally, eIF5A controls cell migration and regulates Diaphanous levels also in mammalian cells. Our results uncover an evolutionary conserved role of eIF5A regulating cytoskeleton-dependent processes…

0301 basic medicineFluorescent Antibody Techniquelcsh:Medicinemacromolecular substancesBiologyArticleMiceEukaryotic cells03 medical and health sciencesEukaryotic translationCell MovementPeptide Initiation FactorsCitosqueletProtein biosynthesisAnimalsProtein Interaction Domains and Motifslcsh:ScienceCytoskeletonActinMultidisciplinaryCèl·lules eucariotesMicrofilament Proteinsfungilcsh:RGene Expression Regulation DevelopmentalRNA-Binding ProteinsTranslation (biology)Biological EvolutionActinsDorsal closureCell biologyElongation factor030104 developmental biologyProtein BiosynthesisForminsMutationbiology.proteinDrosophilalcsh:QEIF5AScientific Reports
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Tirant: A new retrotransposon-like element inDrosophila melanogaster

1996

In this paper we report a new retrotransposon-like element of Drosophila melanogaster called Tirant. This sequence is moderately repeated in the genome of this species and it has been found to be widely dispersed throughout its distribution area. From Southern blot and in situ analyses, this sequence appears to be mobile in D. melanogaster, since its chromosome location and the hybridization patterns vary among the different strains analyzed. In this way, partial sequencing of Tirant ends suggests that it is a retrotransposon, since it is flanked by two LTRs. The presence of sequences homologous to Tirant has been also investigated in 28 species of the genus Drosophila by means of Southern …

GeneticsSophophorabiologyChromosomeRetrotransposonbiology.organism_classificationGenomeGeneticsMelanogasterDrosophila melanogasterDrosophila (subgenus)Molecular BiologyEcology Evolution Behavior and SystematicsSouthern blotJournal of Molecular Evolution
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Dejerine-Sottas neuropathy associated with De Novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene

1998

GeneticsFamily HealthMaleDNA Mutational AnalysisDNABiologyDEJERINE-SOTTAS NEUROPATHYPedigreeAmino Acid SubstitutionPeripheral myelin protein 22Child PreschoolMutation (genetic algorithm)MutationGeneticsHumansPoint MutationFemaleChildHereditary Sensory and Motor NeuropathyPmp22 geneGenetics (clinical)Myelin ProteinsPolymorphism Single-Stranded Conformational
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Drosophila Models of Parkinson's Disease: Discovering Relevant Pathways and Novel Therapeutic Strategies

2010

Parkinson's disease (PD) is the second most common neurodegenerative disorder and is mainly characterized by the selective and progressive loss of dopaminergic neurons, accompanied by locomotor defects. Although most PD cases are sporadic, several genes are associated with rare familial forms of the disease. Analyses of their function have provided important insights into the disease process, demonstrating that three types of cellular defects are mainly involved in the formation and/or progression of PD: abnormal protein aggregation, oxidative damage, and mitochondrial dysfunction. These studies have been mainly performed in PD models created in mice, fruit flies, and worms. Among them, Dro…

Parkinson's diseasebiologyved/biologyved/biology.organism_classification_rank.speciesDopaminergicNeuroscience (miscellaneous)Review ArticleDiseasebiology.organism_classificationmedicine.diseaseBioinformaticslcsh:RC346-429PathogenesisPsychiatry and Mental healthmedicineNeurology (clinical)Model organismDrosophilaGenelcsh:Neurology. Diseases of the nervous systemFunction (biology)Parkinson's Disease
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A stress-responsive miRNA regulates BMP signaling to maintain tissue homeostasis

2021

Adult organisms must sense and adapt to environmental fluctuations. In high-turnover tissues such as the intestine, these adaptive responses require rapid changes in gene expression that, in turn, likely involve posttranscriptional gene control. However, intestinal-tissue-specific microRNA (miRNA)-mediated regulatory pathways remain unexplored. Here, we report the role of an intestinal-specific miRNA, miR-958, that non-cell autonomously regulates stem cell numbers during tissue homeostasis and regeneration in the Drosophila adult midgut. We identify its downstream target cabut, the Drosophila ortholog of mammalian KLF10/11 transcription factors, which mediates this miR-958 function by promo…

Green Fluorescent ProteinsCell CountBiologyBone morphogenetic protein03 medical and health sciencesParacrine signallingBleomycin0302 clinical medicineGenes ReportermicroRNAGene expressionAnimalsDrosophila ProteinsHomeostasisRegenerationTranscription factorTissue homeostasis030304 developmental biology0303 health sciencesMultidisciplinaryRegeneration (biology)Stem CellsBiological SciencesCell biologyMicroRNAsDrosophila melanogasterEnterocytesGene Expression RegulationBone Morphogenetic ProteinsStem cell030217 neurology & neurosurgerySignal TransductionTranscription Factors
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Planar Cell Polarity Signaling in Collective Cell Movements During Morphogenesis and Disease

2012

Collective and directed cell movements are crucial for diverse developmental processes in the animal kingdom, but they are also involved in wound repair and disease. During these processes groups of cells are oriented within the tissue plane, which is referred to as planar cell polarity (PCP). This requires a tight regulation that is in part conducted by the PCP pathway. Although this pathway was initially characterized in flies, subsequent studies in vertebrates revealed a set of conserved core factors but also effector molecules and signal modulators, which build the fundamental PCP machinery. The PCP pathway in Drosophila regulates several developmental processes involving collective cel…

GeneticsHeart morphogenesisOmmatidial rotationConvergent extensionCollective cell movementsMorphogenesisPlanar cell polarity.BiologyDevelopmentEmbryonic stem cellDorsal closureArticleGeneticsEye developmentMorphogenesisDrosophilaDiseaseNeural crest cell migrationNeuroscienceGenetics (clinical)
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Sequencing analysis of a 4·1 kb subtelomeric region from yeast chromosome IV identifiesHXT15, a new member of the hexose transporter family

1996

The DNA sequence of a 4·1 kb region of Saccharomyces cerevisiae chromosome IV was determined. This region contains a single open reading frame which codes for a member of the hexose transporter family. This new gene has been named HXT15 according to yeast gene data bases. The sequence has been entered in the EMBL data library under Accession Number X92891.

GeneticsbiologyAccession number (library science)Saccharomyces cerevisiaeChromosomeBioengineeringbiology.organism_classificationSubtelomereApplied Microbiology and BiotechnologyBiochemistryDNA sequencingYeastOpen reading frameGeneticsGeneBiotechnologyYeast
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Structure and expression of clustered P element homologues in Drosophila subobscura and Drosophila guanche

1995

Abstract Sequence relationships and functional aspects were analysed in the P element homologues of Drosophila subobscura (Ds) and D. guanche (Dg) . In both species, the P homologues are clustered at a single genomic position. They lack the characteristic terminal structures of actively transposing P elements, but they have the coding capacity for a 66-kDa ‘repressor-like’ protein. Two different types of cluster units (G-type and A-type) can be distinguished. The A-type unit, which is present in multiple copies, is transcribed in adult flies. In contrast, the G-type unit has a much lower copy number and is apparently not expressed. In Dg , the isolated G-type sequence carries a 420-bp inser…

Transposable elementLineage (genetic)Transcription GeneticMolecular Sequence DataRepressorBiologyDNA RibosomalP elementSpecies SpecificitySequence Homology Nucleic AcidGeneticsAnimalsAmino Acid SequenceInsertion sequencePromoter Regions GeneticRepetitive Sequences Nucleic AcidGeneticsBase SequenceSequence Homology Amino AcidPromoterGeneral MedicineBlotting NorthernBiological EvolutionDrosophila subobscuraMutagenesisDNA Transposable ElementsDrosophilaMobile genetic elementsSequence AlignmentGene
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Identification of potential therapeutic compounds for Parkinson's disease using Drosophila and human cell models.

2017

Abstract Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer's disease. It is caused by a loss of dopaminergic neurons in the substantia nigra pars compacta, leading to a decrease in dopamine levels in the striatum and thus producing movement impairment. Major physiological causes of neurodegeneration in PD are oxidative stress (OS) and mitochondrial dysfunction; these pathophysiological changes can be caused by both genetic and environmental factors. Although most PD cases are sporadic, it has been shown that 5–10% of them are familial forms caused by mutations in certain genes. One of these genes is the DJ-1 oncogene, which is involved in an early…

0301 basic medicineParkinson's diseaseProtein Deglycase DJ-1Drug Evaluation PreclinicalSubstantia nigraNerve Tissue ProteinsBiologymedicine.disease_causeBiochemistryAnimals Genetically Modified03 medical and health sciences0302 clinical medicineDopaminePhysiology (medical)Cell Line TumorDrug DiscoverymedicineAnimalsDrosophila ProteinsHumansGeneticsMutationPars compactaNeurodegenerationDopaminergicParkinson Diseasemedicine.diseaseDisease Models AnimalOxidative Stress030104 developmental biologyGene Knockdown TechniquesMutationCancer researchDrosophila030217 neurology & neurosurgeryOxidative stressLocomotionmedicine.drugFree radical biologymedicine
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Mtlinteracts with members of Egfr signaling and cell adhesion genes in the Drosophila eye

2011

Mtl is a member of the Rho family of small GTPases in Drosophila. It was shown that Mtl is involved in planar cell polarity (PCP) establishment, together with other members of the same family like Cdc42, Rac1, Rac2 and RhoA. However, while Rac1, Rac2 and RhoA function downstream of Dsh in Fz/PCP signaling and upstream of a JNK cassette, Mtl and Cdc42 do not. To determine the functional context of Mtl during PCP establishment in the Drosophila eye, we performed a loss-of-function screen to search for dominant modifiers of a sev>Mtl rough eye phenotype. In addition, genetic interaction assays with candidate genes were also carried out. Our results show that Mtl interacts genetically with memb…

rho GTP-Binding ProteinsGeneticsOmmatidial rotationRHOAbiologyCytoskeleton organizationCell PolarityCDC42Cell biologyErbB ReceptorsPhenotypeInsect ScienceCell polarityCell Adhesionbiology.proteinAnimalsDrosophila ProteinsImmunoglobulin superfamilyDrosophilaCompound Eye ArthropodReceptors Invertebrate PeptideCell adhesionpsychological phenomena and processesDrosophila ProteinSignal TransductionFly
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Drosophila as a Model System for the Identification of Pharmacological Therapies in Neurodegenerative Diseases

2019

Neurodegenerative diseases (NDs) constitute a very important problem in our current society, as they are usually associated with the aging process. NDs are devastating disorders that lead to severe disabilities and ultimately to death and have a considerable impact on human health. Although intense efforts are being made to shed light on the pathophysiology underlying these diseases, an important concern is that NDs are incurable and existing therapies are only directed to relieve their symptoms or delay the progression of the disease. Therefore, the development of new therapeutic approaches against NDs is urgent and challenging. In such a scenario, Drosophila is a very valuable model organ…

Human healthbusiness.industryDrug screensved/biologyved/biology.organism_classification_rank.speciesMedicineDrug administrationIdentification (biology)Model systemDiseasebusinessModel organismNeuroscience
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Drosophila DJ-1 mutants are sensitive to oxidative stress and show reduced lifespan and motor deficits.

2007

Parkinson's disease (PD) is a progressive movement disorder caused by the selective and massive loss of dopaminergic neurons (DA) in the substantia nigra pars compacta (SNc). DJ-1 loss-of-function mutations are involved in inherited early-onset PD forms and result in dysfunction of the oxidative stress response. In mice models, DJ-1 loss provokes sensitivity to oxidative insults but does not produce neurodegeneration. Similar results have been found when analyzing Drosophila mutants for the DJ-1 orthologous genes, DJ-1alpha and DJ-1beta. Here, we report the analysis of two new mutations for the Drosophila DJ-1 genes. Both ubiquitous induction of DJ-1alpha knockdown by RNAi and loss of funct…

Parkinson's diseaseDopamineProtein Deglycase DJ-1Substantia nigraNerve Tissue ProteinsBiologyMotor Activitymedicine.disease_causeLife ExpectancyGeneticsmedicineAnimalsDrosophila ProteinsLoss functionNeuronsGene knockdownPars compactaNeurodegenerationAge FactorsGeneral MedicineAnatomymedicine.diseaseCell biologyOxidative Stressmedicine.anatomical_structureMutationRNA InterferenceNeuronOxidative stressGene
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Expression of Drosophila Cabut during early embryogenesis, dorsal closure and nervous system development.

2010

cabut (cbt) encodes a transcription factor involved in Drosophila dorsal closure (DC), and it is expressed in embryonic epithelial sheets and yolk cell during this process upon activation of the Jun N-terminal kinase (JNK) signaling pathway. Additional studies suggest that cbt may have a role in multiple developmental processes. To analyze Cbt localization through embryogenesis, we generated a Cbt specific antibody that has allowed detecting new Cbt expression patterns. Immunohistochemical analyses on syncytial embryos and S2 cells reveal that Cbt is localized on the surface of mitotic chromosomes at all mitotic phases. During DC, Cbt is expressed in the yolk cell, in epidermal cells and in…

Nervous systemCentral Nervous SystemRecombinant Fusion ProteinsMitosisBiologybehavioral disciplines and activities03 medical and health sciencesGenes ReporterTubulinmental disordersPeripheral Nervous SystemGeneticsmedicineAnimalsDrosophila ProteinsPromoter Regions GeneticMolecular BiologyMitosis030304 developmental biologyRegulation of gene expressionGeneticsCell Nucleus0303 health sciencesSchneider 2 cells030302 biochemistry & molecular biologyEmbryogenesisGene Expression Regulation DevelopmentalEmbryoEmbryonic stem cellDorsal closureChromatin3. Good healthCell biologyProtein Structure Tertiarymedicine.anatomical_structureEpidermal CellsOrgan SpecificityDrosophilaLamininEpidermisDevelopmental BiologyTranscription FactorsGene expression patterns : GEP
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saliva, a new Drosophila gene expressed in the embryonic salivary glands with homologues in plants and vertebrates.

1998

saliva (slv) transcription begins at the salivary gland placodes and continues on throughout development as salivary glands invaginate and reach their final location and morphology. saliva is located cytogenetically in 76A/B, and encodes a 226-amino-acid protein with four hydrophobic domains. A Northern blot detects a 1.6-kb transcript throughout development. Database similarity searches reveal homology to proteins from Caenorhabditis, Lilium, Medicago and mouse.

EmbryologySalivaDNA ComplementaryEmbryo NonmammalianDNA PlantMolecular Sequence DataGenes InsectGenes PlantHomology (biology)Salivary Glandsstomatognathic systemmedicineAnimalsDrosophila ProteinsNorthern blotAmino Acid SequenceSalivary Proteins and PeptidesGeneIn Situ HybridizationbiologySalivary glandSequence Homology Amino AcidGene Expression Regulation DevelopmentalSequence Analysis DNAPlantsbiology.organism_classificationMolecular biologyCaenorhabditismedicine.anatomical_structureDrosophila melanogasterVertebratesDrosophila melanogasterSequence AlignmentDrosophila ProteinDevelopmental BiologyMechanisms of development
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The muscleblind gene participates in the organization of Z-bands and epidermal attachments of Drosophila muscles and is regulated by Dmef2.

1998

We report the embryonic phenotype of muscleblind (mbl), a recently described Drosophila gene involved in terminal differentiation of adult ommatidia. mbl is a nuclear protein expressed late in the embryo in pharyngeal, visceral, and somatic muscles, the ventral nerve cord, and the larval photoreceptor system. All three mbl alleles studied exhibit a lethal phenotype and die as stage 17 embryos or first instar larvae. These larvae are partially paralyzed, show a characteristically contracted abdomen, and lack striation of muscles. Our analysis of the somatic musculature shows that the pattern of muscles is established correctly, and they form morphologically normal synapses. Ultrastructural a…

Central Nervous SystemSomatic cellMuscle Fibers SkeletalNeuromuscular JunctionMuscle ProteinsGenes InsectBiologymuscle attachmentsmuscleblindMesodermTendonsEctodermAnimalsDrosophila ProteinsConnectinRNA MessengerNuclear proteinMuscle SkeletalMolecular BiologyZ-bandsCell NucleusEpidermis (botany)MyogenesisMEF2 Transcription FactorsDrosophila.Gene Expression Regulation DevelopmentalNuclear ProteinsEmbryoCell DifferentiationCell BiologyAnatomybacterial infections and mycosesEmbryonic stem cellPhenotypeCell biologyDNA-Binding ProteinsMyogenic Regulatory FactorsVentral nerve cordMutationInsect ProteinsDrosophilaPhotoreceptor Cells InvertebratemyogenesisDevelopmental BiologyTranscription FactorsDevelopmental biology
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Cabut/dTIEG associates with the transcription factor Yorkie for growth control

2015

The Drosophila transcription factor Cabut/dTIEG (Cbt) is a growth regulator, whose expression is modulated by different stimuli. Here, we determine Cbt association with chromatin and identify Yorkie (Yki), the transcriptional co-activator of the Hippo (Hpo) pathway as its partner. Cbt and Yki co-localize on common gene promoters, and the expression of target genes varies according to changes in Cbt levels. Down-regulation of Cbt suppresses the overgrowth phenotypes caused by mutations in expanded (ex) and yki overexpression, whereas its up-regulation promotes cell proliferation. Our results imply that Cbt is a novel partner of Yki that is required as a transcriptional co-activator in growth…

Chromatin ImmunoprecipitationdTIEGgrowthBiologyProtein Serine-Threonine KinasesReal-Time Polymerase Chain ReactionBiochemistrybehavioral disciplines and activitiesModels BiologicalCabutRegulació genèticamental disordersGeneticsAnimalsDrosophila ProteinsDrosòfila -- GenèticaNuclear proteinYorkieMolecular BiologyGeneTranscription factorGeneticsSequence Analysis RNAfungiScientific ReportsGAFIntracellular Signaling Peptides and ProteinsNuclear ProteinsPromoterYAP-Signaling ProteinsPhenotypeCell biologyChromatinbody regionsJuvenile HormonesTrans-ActivatorsDrosophilaSignal transductionChromatin immunoprecipitationSignal TransductionTranscription FactorsEMBO Reports
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Cbt modulates Foxo activation by positively regulating insulin signaling in Drosophila embryos.

2018

In late Drosophila embryos, the epidermis exhibits a dorsal hole as a consequence of germ band retraction. It is sealed during dorsal closure (DC), a morphogenetic process in which the two lateral epidermal layers converge towards the dorsal midline and fuse. We previously demonstrated the involvement of the Cbt transcription factor in Drosophila DC. However its molecular role in the process remained obscure. In this study, we used genomic approaches to identify genes regulated by Cbt as well as its direct targets during late embryogenesis. Our results reveal a complex transcriptional circuit downstream of Cbt and evidence that it is functionally related with the Insulin/insulin-like growth…

0301 basic medicinebiologyGrowth factormedicine.medical_treatmentBiophysicsRegulatorContext (language use)behavioral disciplines and activitiesBiochemistryDorsal closureCell biology03 medical and health sciencesInsulin receptor030104 developmental biologyStructural Biologymental disordersGeneticsbiology.proteinmedicineSignal transductionMolecular BiologyTranscription factorPsychological repressionBiochimica et biophysica acta. Gene regulatory mechanisms
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Cabut, a C2H2 zinc finger transcription factor, is required during Drosophila dorsal closure downstream of JNK signaling.

2005

AbstractDuring dorsal closure, the lateral epithelia on each side of the embryo migrate dorsally over the amnioserosa and fuse at the dorsal midline. Detailed genetic studies have revealed that many molecules are involved in this epithelial sheet movement, either with a signaling function or as structural or motor components of the process. Here, we report the characterization of cabut (cbt), a new Drosophila gene involved in dorsal closure. cbt is expressed in the yolk sac nuclei and in the lateral epidermis. The Cbt protein contains three C2H2-type zinc fingers and a serine-rich domain, suggesting that it functions as a transcription factor. cbt mutants die as embryos with dorsal closure …

animal structuresMorphogenesisBiologyCabutZinc fingerMorphogenesismedicineAnimalsDrosophila ProteinsDorsal closureYolk sacMolecular BiologyTranscription factorYolk nucleiCytoskeletonGeneticsZinc fingerEpidermis (botany)C2H2 Zinc FingerJNK Mitogen-Activated Protein KinasesZinc FingersCell BiologyDorsal closureCell biologymedicine.anatomical_structureDrosophila melanogasterEpidermal Cellsembryonic structuresMutationJNK cascadeDrosophilaJNKDevelopmental BiologySignal TransductionTranscription FactorsDevelopmental biology
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A heterochromatic P sequence in the D. subobscura genome.

1994

The study of a heterochromatic P sequence of D. subobscura reveals that it is a degraded element, located at the centromeric region of the A chromosome (X chromosome in this species), and that it is strongly diverged from the euchromatic P sequences previously described in this species. This heterochromatic sequence is composed of some P element fragments embedded in undefined beta-heterochromatic sequences. These mosaic P sequences do not show any transcriptional activity and seem to be ancient parasites of the D. subobscura genome. Phylogenetic analyses indicate that both the euchromatic and heterochromatic P sequences of D. subobscura could come from an ancestral element which was presen…

DNA ComplementaryX ChromosomeEuchromatinTranscription GeneticHeterochromatinMolecular Sequence DataPlant ScienceBiologyGenomeP elementHeterochromatinGeneticsAnimalsCloning MolecularX chromosomePhylogenySequence (medicine)GeneticsPhylogenetic treeBase SequenceChromosomeChromosome MappingGeneral MedicineSequence Analysis DNAInsect ScienceDNA Transposable ElementsAnimal Science and ZoologyDrosophilaSequence AlignmentGenetica
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Gly114Asp mutation of rhodopsin in autosomal dominant retinitis pigmentosa

1995

Two autosomal dominant retinitis pigmentosa families of different origin were screened for rhodopsin mutations using the method of single strand conformation polymorphism and direct sequencing. We found a CGG-CAG substitution in codon 114 of rhodopsin in both families. This change predicted the replacement of a glycine by an aspartic acid and suggested that this change is the cause of the disease in these families.

AdultMaleRhodopsincongenital hereditary and neonatal diseases and abnormalitiesAdolescentgenetic structuresMolecular Sequence DataGlycinemedicine.disease_causeAutosomal dominant retinitis pigmentosaRetinitis pigmentosaAspartic acidmedicineHumansPoint MutationAmino Acid SequenceCodonMolecular BiologyGenes DominantGeneticsAspartic AcidMutationPolymorphism GeneticBase SequencebiologyDirect sequencingSingle-strand conformation polymorphismCell BiologyMiddle Agedmedicine.diseasePedigreeRhodopsinGlycinebiology.proteinFemalesense organsRetinitis PigmentosaMolecular and Cellular Probes
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The use of whole-mountin situhybridization to illustrate gene expression regulation

2014

In situ hybridization is a widely used technique for studying gene expression. Here, we describe two experiments addressed to postgraduate genetics students in which the effect of transcription factors on gene expression is analyzed in Drosophila embryos of different genotypes by whole-mount in situ hybridization. In one of the experiments, students analyzed the repressive effect of Snail over rhomboid expression using reporter lines containing different constructs of the rhomboid neuroectodermal enhancer fused to the lacZ gene. In the second experiment, the epistatic relationship between the cabut and decapentaplegic genes was analyzed. These simple experiments allowed students to (1) unde…

GeneticsRegulation of gene expressionDecapentaplegicved/biologyved/biology.organism_classification_rank.speciesIn situ hybridizationBiologyBiochemistryGene expressionEnhancerModel organismMolecular BiologyGeneTranscription factorBiochemistry and Molecular Biology Education
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Effects of pharmacological agents on the lifespan phenotype of Drosophila DJ-1beta mutants.

2010

Mutations in the DJ-1 gene cause autosomal recessive, early-onset Parkinsonism. The DJ-1 protein exerts a protective role against oxidative stress damage, working as a cellular oxidative stress sensor, and it seems to regulate gene expression at different levels. In Drosophila, two DJ-1 orthologs have been identified: DJ-1β and DJ-1β. Several studies have shown that loss of DJ-1β function causes Parkinson's disease (PD)-like phenotypes in flies such as age-dependent locomotor defects, reduced lifespan, and enhanced sensitivity to toxins that induce oxidative stress, like the herbicide paraquat. However, no dopaminergic neurodegeneration is observed. These results suggested that both locomot…

ParaquatDopamineMutantOxidative phosphorylationBiologymedicine.disease_causeAntioxidantsLipid peroxidationchemistry.chemical_compoundParkinsonian DisordersGeneticsmedicineAnimalsGeneticschemistry.chemical_classificationReactive oxygen speciesNeurodegenerationDopaminergicBrainParkinson DiseaseGeneral Medicinemedicine.diseasePhenotypeCell biologyOxidative StressPhenotypechemistryMutationDrosophilaReactive Oxygen SpeciesOxidative stressGene
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P sequences ofDrosophilla Subobscuralack exon 3 and may encode a 66 kd repressor-like protein

1991

Abstract Several P homologous sequences have been cloned and sequenced from Drosophila subobscura. These sequences are located at the 85DE region of the O chromosome and at least three of them are organized in tandem. We have identified four copies which exhibit strong similarity between them. All of the isolated elements are truncated at the 5' and 3' ends. They have lost the inverted terminal repeats and exon 3, but maintain exons 0, 1 and 2. They are transcribed producing a polyadenylated RNA. The structure of these transcripts suggests that they are able to encode a 66 kd repressor-like protein, but not a functional transposase. We ask about the biological role of a potential repressor …

Transposable elementMolecular Sequence DataRestriction MappingTransposasesRepressorBiologyHomology (biology)P elementExonSequence Homology Nucleic AcidGeneticsAnimalsAmino Acid SequenceCloning MolecularTransposaseRepetitive Sequences Nucleic AcidGeneticsLeucine ZippersBase SequenceNucleic acid sequenceNucleic Acid HybridizationExonsNucleotidyltransferasesMolecular biologyDrosophila subobscuraRepressor ProteinsDNA Transposable ElementsDrosophilaNucleic Acids Research
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Collective Cell Migration in Tissue Building

2015

Collective cell migration (CCM) is an essential process during tissue building and morphogenesis of animal body plans, but it can also occur in pathogenic situations. A detailed study of this cell behaviour in several model systems has allowed to determine that cells move coordinately but interact differently while migrating together, thus defining several categories of collective cell movements. They are regulated by guidance signals that act as chemoattractants and allow directionality of movement and whose levels, together with the action of repulsive molecular cues, influence this movement. Besides, cells in the moving group affect each other through cell–cell interactions but they also…

Cell signalingmedicine.anatomical_structureCellmedicineMorphogenesisExtracellularDirectionalityChemotaxisBiologyProcess (anatomy)IntracellularCell biologyeLS
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SERCA activity is reduced in DJ-1 mutant flies and human cells due to oxidative modification

2020

ABSTRACTDJ-1 is a causative gene for familial Parkinson’s disease (PD) with different functions, standing out its role against oxidative stress (OS). Accordingly, PD model flies harboring a mutation in the DJ-1β gene (the Drosophila ortholog of human DJ-1) show high levels of OS markers like protein carbonylation, a common post-translational modification that may alter protein function. To increase our understanding of PD pathogenesis as well as to discover potential therapeutic targets for pharmacological intervention, we performed a redox proteomic assay in DJ-1β mutant flies. Among the proteins that showed increased carbonylation levels in PD model flies, we found SERCA, an endoplasmic r…

SERCAChemistryActivator (genetics)Endoplasmic reticulumProtein CarbonylationMutantmedicineOxidative phosphorylationmedicine.disease_causeOxidative stressHomeostasisCell biology
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Drosophila as a model of wound healing and tissue regeneration in vertebrates.

2011

Understanding the molecular basis of wound healing and regeneration in vertebrates is one of the main challenges in biology and medicine. This understanding will lead to medical advances allowing accelerated tissue repair after wounding, rebuilding new tissues/organs and restoring homeostasis. Drosophila has emerged as a valuable model for studying these processes because the genetic networks and cytoskeletal machinery involved in epithelial movements occurring during embryonic dorsal closure, larval imaginal disc fusion/regeneration, and epithelial repair are similar to those acting during wound healing and regeneration in vertebrates. Recent studies have also focused on the use of Drosoph…

AdultWound HealingRegeneration (biology)AnatomyBiologyRegenerative medicineModels BiologicalDorsal closureCell biologyImaginal discAdult Stem CellsModels AnimalVertebratesAnimalsHumansRegenerationDrosophilaWound healingImaginal disc fusionTissue homeostasisDevelopmental BiologyAdult stem cellDevelopmental dynamics : an official publication of the American Association of Anatomists
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Molecular characterization and evolution of the protein phosphatase 2A B' regulatory subunit family in plants.

2002

Abstract Type 2A serine/threonine protein phosphatases (PP2A) are important components in the reversible protein phosphorylation events in plants and other organisms. PP2A proteins are oligomeric complexes constituted by a catalytic subunit and several regulatory subunits that modulate the activity of these phosphatases. The analysis of the complete genome of Arabidopsis allowed us to characterize four novel genes, AtB′ε, AtB′ζ,AtB′η, and AtB′θ, belonging to the PP2A B′ regulatory subunit family. Because four genes of this type had been described previously, this family is composed of eight members. Reverse transcriptase-polymerase chain reaction experiments showed thatAtB′ε mRNAs are prese…

PhysiologyProtein subunitMolecular Sequence DataArabidopsisPlant ScienceGene Expression Regulation EnzymologicEvolution MolecularGene Expression Regulation PlantArabidopsisGeneticsPhosphoprotein PhosphatasesArabidopsis thalianaProtein phosphorylationAmino Acid SequenceProtein Phosphatase 2GenePeptide sequencePhylogenyGenomic organizationGeneticsExpressed Sequence TagsbiologySequence Homology Amino AcidOryzaProtein phosphatase 2Plantsbiology.organism_classificationIsoenzymesBiochemistryMultigene FamilyResearch ArticlePlant physiology
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A high-throughput chemical screen in DJ-1β mutant flies identifies zaprinast as a potential Parkinson's disease treatment

2021

AbstractDopamine replacement represents the standard therapy for Parkinson’s disease (PD), a common, chronic, and incurable neurological disorder; however, this approach only treats the symptoms of this devastating disease. In the search for novel disease-modifying therapies that target other relevant molecular and cellular mechanisms, Drosophila has emerged as a valuable tool to study neurodegenerative diseases due to the presence of a complex central nervous system, the blood–brain barrier, and a similar neurotransmitter profile to humans. Human PD-related genes also display conservation in flies; DJ-1β is the fly ortholog of DJ-1, a gene for which mutations prompt early-onset recessive P…

Programmed cell deathParkinson's diseasePurinonesSistema nerviós central MalaltiesMutantProtein Deglycase DJ-1PharmacologyBiologymedicine.disease_causechemistry.chemical_compoundNeurologiaDopaminemedicineAnimalsPharmacology (medical)GPR35 agonistPharmacologyHigh-throughput screeningPhosphodiesteraseParkinson Diseasemedicine.diseaseOxidative StresschemistryParkinson’s diseaseDrosophilaOriginal ArticleZaprinastNeurology (clinical)Phosphodiesterase inhibitorZaprinastGPR35Oxidative stressmedicine.drug
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Molecular evolution of P transposable elements in the Genus drosophila. II. The obscura species group.

1998

A phylogenetic analysis of P transposable elements in the Drosophila obscura species group is described. Multiple P sequences from each of 10 species were obtained using PCR primers that flank a conserved region of exon 2 of the transposase gene. In general, the P element phylogeny is congruent with the species phylogeny, indicating that the dominant mode of transmission has been vertical, from generation to generation. One manifestation of this is the distinction of P elements from the Old World obscura and subobscura subgroups from those of the New World affinis subgroup. However, the overall distribution of elements within the obscura species group is not congruent with the phylogenetic …

GeneticsbiologyPhylogenetic treeGenes Insectbiology.organism_classificationPolymerase Chain ReactionP elementEvolution MolecularPhylogeneticsGenusMolecular evolutionHorizontal gene transferGeneticsDNA Transposable ElementsAnimalsDrosophilaDrosophila obscuraDrosophila (subgenus)Molecular BiologyEcology Evolution Behavior and SystematicsPhylogenyJournal of molecular evolution
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Overexpression of Septin 4, the Drosophila homologue of human CDCrel-1, is toxic for dopaminergic neurons

2007

parkin loss-of-function mutations are linked to autosomal recessive juvenile parkinsonism. Parkin is an E3 ubiquitin ligase that promotes degradation of specific target proteins by the proteasome. It has been proposed that loss of Parkin activity will result in accumulation of its substrates, thus leading to dopaminergic (DA) neuron death. In Drosophila, parkin mutations cause degeneration of a subset of DA neurons in the brain but no Parkin substrates have yet been described. Here we characterized the septin 4 gene, which encodes the Drosophila orthologue of human CDCrel-1, a Parkin substrate. We showed that Septin 4 overexpression causes age-dependent disruption of DA neuron integrity in …

GeneticsbiologyGeneral NeurosciencefungiMutantSeptinPhenotypeParkinnervous system diseasesUbiquitin ligaseCell biologymedicine.anatomical_structureProteasomebiology.proteinmedicineNeuronNeuron deathEuropean Journal of Neuroscience
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Antioxidant compound supplementation prevents oxidative damage in a Drosophila model of Parkinson's disease

2013

Loss-of-function mutations in the DJ-1 gene are linked to rare autosomal recessive forms of parkinsonism. In Drosophila, two DJ-1 orthologs have been identified, DJ-1α and DJ-1β. Several studies have shown that DJ-1β mutant flies are viable and fertile but exhibit age-dependent locomotor defects, shortened life span, and enhanced sensitivity to toxins that induce oxidative stress response compared to control flies. We also demonstrated that long-term dietary supplementation with antioxidant compounds was effective at increasing life-span values of DJ-1β mutants. These results, together with high levels of oxidative stress markers detected in newly eclosed DJ-1β mutant flies compared to cont…

chemistry.chemical_classificationReactive oxygen speciesAntioxidantVitamin Cmedicine.medical_treatmentParkinson DiseaseBiologymedicine.disease_causeProtein oxidationAscorbic acidBiochemistryAntioxidantsSuperoxide dismutaseDisease Models AnimalOxidative StressDrosophila melanogasterchemistryBiochemistryCatalasePhysiology (medical)medicinebiology.proteinAnimalsReactive Oxygen SpeciesOxidative stressFree Radical Biology and Medicine
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Nemo regulates cell dynamics and represses the expression of miple, a midkine/pleiotrophin cytokine, during ommatidial rotation

2013

AbstractOmmatidial rotation is one of the most important events for correct patterning of the Drosophila eye. Although several signaling pathways are involved in this process, few genes have been shown to specifically affect it. One of them is nemo (nmo), which encodes a MAP-like protein kinase that regulates the rate of rotation throughout the entire process, and serves as a link between core planar cell polarity (PCP) factors and the E-cadherin–β-catenin complex. To determine more precisely the role of nmo in ommatidial rotation, live-imaging analyses in nmo mutant and wild-type early pupal eye discs were performed. We demonstrate that ommatidial rotation is not a continuous process, and …

Ommatidial rotationRotationCellMutantEyePleiotrophinModels BiologicalArticleImaging Three-DimensionalmedicineAnimalsDrosophila ProteinsMipleProtein kinase AMolecular BiologyGenetic Association Studiesbeta CateninBody PatterningMidkineLive-imagingbiologyGene Expression ProfilingMidkineGene Expression Regulation DevelopmentalCell BiologyCadherinsPhenotypeMolecular biologyCell biologyDrosophila melanogasterPhenotypemedicine.anatomical_structureImaginal DiscsNemoMutationbiology.proteinCytokinesDrosophila eyeFemaleGene expressionMitogen-Activated Protein KinasesSignal transductionOmmatidial rotationDevelopmental BiologyDevelopmental Biology
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Enhanced activity of glycolytic enzymes in Drosophila and human cell models of Parkinson's disease based on DJ-1 deficiency

2020

ABSTRACTParkinson’s disease (PD) is a neurodenerative debilitating disorder characterized by progressive disturbances in motor, autonomic and psychiatric functions. The pathological hallmark of PD is the loss of dopaminergic neurons in the substantia nigra pars compacta, which causes striatal dopamine deficiency. Although most PD cases are sporadic (iPD), approximately 5-10% of all patients suffer from monogenic PD forms caused by highly penetrant rare mutations segregating with the disease in families (fPD). One of the genes linked to monogenic PD is DJ-1. Mutations in DJ-1 cause autosomal recessive early-onset forms of fPD; however, it has been shown that an over-oxidized and inactive for…

0301 basic medicineParkinson's diseaseProtein CarbonylationProtein Deglycase DJ-1MutantNerve Tissue ProteinsSubstantia nigraBiologymedicine.disease_causeBiochemistryNeuroprotection03 medical and health sciences0302 clinical medicinePhysiology (medical)medicineAnimalsDrosophila ProteinsHumansGlycolysisGeneLoss functionPars compactaChemistryDopaminergicParkinson Diseasemedicine.diseasePhenotypeCell biologyOxidative Stress030104 developmental biologyDrosophilaGlycolysis030217 neurology & neurosurgeryOxidative stressFree Radical Biology and Medicine
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Noncanonical RNAs from transcripts of the Drosophila muscleblind gene.

2006

It has become increasingly evident that eukaryotic cells produce RNA molecules from coding genes with constitutions other than those of typically spliced mRNA transcripts. Here we describe new cDNAs from the Drosophila melanogaster muscleblind (mbl ) locus that identify two such atypical RNA molecules: RNAs containing an incomplete exon 2 tandem repetition (mblE2E2#) or having exons with a different order compared to the corresponding genomic DNA (mblE2E3#E2#; exon scrambling). The existence of exon duplications and rearrangements in the genomic locus that might explain such cDNAs was ruled out by genomic Southern blotting and in silico analysis of the Drosophila genome sequence. The incomp…

PolyadenylationMolecular Sequence DataBiologyExonRapid amplification of cDNA endsComplementary DNAGeneticsAnimalsDrosophila ProteinsAmino Acid SequenceRNA MessengerMolecular BiologyGeneGenetics (clinical)DNA PrimersGeneticsBase SequenceReverse Transcriptase Polymerase Chain ReactionRNANuclear ProteinsExonsgenomic DNARNA splicingDrosophilaPoly ABiotechnologyThe Journal of heredity
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Scabrous overexpression in the eye affects R3/R4 cell fate specification and inhibits notch signaling

2015

Background Planar cell polarity (PCP) in the Drosophila eye is generated when immature ommatidial preclusters acquire opposite chirality in the dorsal and ventral halves of the eye imaginal disc and rotate 90 ° toward the equator. The scabrous (sca) gene is involved in R8 differentiation and in the correct spacing of ommatidial clusters in eye imaginal discs, but it was also suggested to be required during ommatidial rotation. However, no clear relationships between sca and other genes involved in the process were established. Results To explore the role of Sca in PCP establishment, we performed an RNAi-based modifier genetic screen using the rough eye phenotype of sca-overexpressing flies.…

0301 basic medicineOmmatidial rotationbiologyCellular differentiationNotch signaling pathwayCell fate determinationbiology.organism_classificationCell biology03 medical and health sciencesImaginal disc030104 developmental biologyDrosophila melanogasterDrosophila ProteinDevelopmental BiologyGenetic screenDevelopmental Dynamics
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Why mammalian wound-healing researchers may wish to turn to Drosophila as a model.

2014

Wound healing is an essential and complex biological process that allows tissue continuity and functioning to be restored after injury. Understanding the molecular and cellular mechanisms underlying wound repair is essential to develop new therapies that could be useful not only to accelerate the normal healing process but also to treat healing pathologies that appear as a consequence of improper wound resolution. Numerous models have been developed to study wound healing both in vitro and in vivo. In vitro models have been useful to study some steps of epithelial repair. However, the development of effective treatments for wound healing is still required, and this could mainly be achieved …

Wound HealingBiomedical Researchbiologyved/biologyDrug screensved/biology.organism_classification_rank.speciesContext (language use)DermatologyAnatomybiology.organism_classificationBiochemistryHuman healthModels AnimalAnimalsIdentification (biology)DrosophilaGenetic TestingModel organismWound healingMolecular BiologyDrosophilaNeuroscienceOrganismSignal TransductionExperimental dermatology
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Generation of GAL4-responsive muscleblind constructs

2002

The muscleblind (mbl) gene encodes protein isoforms Mbl A to Mbl D, which arise by alternative splicing from a common primary transcript. Mbl A, B, and C contain two Zn-finger domains of the type Cys3His, while Mbl D contains only one complete Zn finger. Loss of function mutations in the gene reveal that mbl is involved in both terminal photoreceptor and muscle differentiation in Drosophila. During retina development mbl is essential for rhabdomere differentiation in photoreceptor neuron. Clones homozygous null for mbl completely lack these lightharvesting structures (Begemann et al., 1997). Similarly, the terminal differentiation of the larval body wall muscles is compromised in mbl mutant…

TransgeneAlternative splicingchemical and pharmacologic phenomenaCell BiologyBiologybacterial infections and mycosesPhenotypeRhabdomereCell biologyImaginal discExonEndocrinologyRNA splicingGeneticsGenegenesis
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Transcriptional Activity and Nuclear Localization of Cabut, the Drosophila Ortholog of Vertebrate TGF-β-Inducible Early-Response Gene (TIEG) Proteins

2011

Background Cabut (Cbt) is a C2H2-class zinc finger transcription factor involved in embryonic dorsal closure, epithelial regeneration and other developmental processes in Drosophila melanogaster. Cbt orthologs have been identified in other Drosophila species and insects as well as in vertebrates. Indeed, Cbt is the Drosophila ortholog of the group of vertebrate proteins encoded by the TGF-s-inducible early-response genes (TIEGs), which belong to Sp1-like/Kruppel-like family of transcription factors. Several functional domains involved in transcriptional control and subcellular localization have been identified in the vertebrate TIEGs. However, little is known of whether these domains and fu…

Transcription GeneticNuclear Localization SignalsActive Transport Cell Nucleuslcsh:MedicineGene ExpressionBiochemistrybehavioral disciplines and activities03 medical and health sciencesModel Organisms0302 clinical medicineTransforming Growth Factor betaMolecular Cell Biologymental disordersGeneticsTranscriptional regulationAnimalsDrosophila Proteinslcsh:ScienceBiology030304 developmental biologyGeneticsZinc finger transcription factor0303 health sciencesMultidisciplinarybiologySchneider 2 cellslcsh:RfungiProteinsAnimal Modelsbiology.organism_classificationFusion proteinCellular StructuresDorsal closure3. Good healthRepressor ProteinsDrosophila melanogasterGene Expression RegulationVertebrateslcsh:QDrosophila melanogaster030217 neurology & neurosurgeryDrosophila ProteinNuclear localization sequenceTranscription FactorsResearch ArticleDevelopmental BiologyPLoS ONE
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