Search results for "Gene Expression"

showing 10 items of 4085 documents

The E3 Ubiquitin Ligase MID1 Catalyzes Ubiquitination and Cleavage of Fu

2014

Sonic Hedgehog (SHH)-GLI signalling plays an important role during embryogenesis and in tumorigenesis. The survival and growth of several types of cancer depend on autonomously activated SHH-GLI signalling. A protein complex containing the ubiquitin-ligase MID1 and protein phosphatase 2A (PP2A) regulates the nuclear localization and transcriptional activity of GLI3, a transcriptional effector molecule of SHH, in cancer cell lines with autonomously activated SHH signalling. However, the exact molecular mechanisms that mediate the interaction between MID1 and GLI3 remained unknown. Here, we show that MID1 catalyses the ubiquitination and proteasomal cleavage of the GLI3-regulator Fu. Our data…

metabolism [Microtubule Proteins]Ubiquitin-conjugating enzymeBiochemistrymetabolism [Protein Serine-Threonine Kinases]Ubiquitinmetabolism [Transcription Factors]Nuclear proteinSonic hedgehogbiologymetabolism [Protein-Serine-Threonine Kinases]Nuclear Proteinsrespiratory systemProtein-Serine-Threonine KinasesUbiquitin ligaseGene Expression Regulation NeoplasticGLI3 protein humanBiochemistryddc:540embryonic structuresMicrotubule Proteinsmetabolism [Hedgehog Proteins]Function and Dysfunction of the Nervous Systemmetabolism [Nuclear Proteins]Signal Transductionmetabolism [Kruppel-Like Transcription Factors]Proteasome Endopeptidase Complexanimal structuresSTK36 protein humanUbiquitin-Protein LigasesKruppel-Like Transcription FactorsNerve Tissue ProteinsProtein Serine-Threonine Kinaseschemistry [Ubiquitin-Protein Ligases]CatalysisZinc Finger Protein Gli3Cell Line TumorGLI3HumansHedgehog Proteinsmetabolism [Proteasome Endopeptidase Complex]metabolism [Cell Nucleus]Molecular Biologychemistry [Lysine]DNA PrimersCell Nucleusmetabolism [Nerve Tissue Proteins]UbiquitinLysineUbiquitinationCell BiologyProtein phosphatase 2chemistry [Ubiquitin]Proteasomebiology.proteinSHH protein humanhuman activitiesMid1 protein humanHeLa CellsTranscription FactorsJournal of Biological Chemistry
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Functions of the translation factor eIF5A in cellular metabolism and transcriptional control

2023

El factor de inicio de traducción de eucariotas 5A (eIF5A) es una proteína esencial y conservada con funciones en las tres fases de la traducción. eIF5A está codificado por dos genes parálogos, TIF51A/TIF51B y EIF5A1/EIF5A2 en levadura y humanos respectivamente. eIF5A es la única proteína que contiene hipusina, una modificación esencial para su actividad, y se une a los ribosomas para facilitar la traducción de motivos con prolinas consecutivas o combinaciones de prolina con glicina y aminoácidos cargados. eIF5A participa en otras funciones y procesos como exporte de mRNAs nucleares, proliferación y apoptosis. Su asociación con enfermades como el cáncer es de interés. En esta tesis se han u…

mitochondriacollagenUNESCO::CIENCIAS DE LA VIDAtranslationgene expression regulationtranscriptionmetabolism
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Myostatin/activin blocking combined with exercise reconditions skeletal muscle expression profile of mdx mice

2015

Duchenne Muscular Dystrophy is characterized by muscle wasting and decreased aerobic metabolism. Exercise and blocking of myostatin/activin signaling may independently or combined counteract muscle wasting and dystrophies. The effects of myostatin/activin blocking using soluble activin receptor-Fc (sActRIIB-Fc) administration and wheel running were tested alone or in combination for seven weeks in dystrophic mdx mice. Expression microarray analysis revealed decreased aerobic metabolism in the gastrocnemius muscle of mdx mice compared to healthy mice. This was not due to reduced home-cage physical activity, and was further downregulated upon sActRIIB-Fc treatment in enlarged muscles. However…

muscular dystrophymedicine.medical_specialtyDuchenne muscular dystrophyActivin Receptors Type IIRecombinant Fusion Proteinsphysical activityMyostatinBiologyta3111BiochemistryMuscle hypertrophy03 medical and health sciencesGastrocnemius muscleMice0302 clinical medicineEndocrinologyoxidative metabolismInternal medicinePhysical Conditioning AnimalGene expressionmedicineSTAT5 Transcription FactorAnimalsmuscle hypertrophyMuscular dystrophyPhosphorylationta315Muscle SkeletalMolecular BiologyWasting030304 developmental biologyInhibin-beta Subunits0303 health sciencesPhysical activitySkeletal muscleMyostatinmusculoskeletal systemmedicine.diseaseMuscular dystrophymRNA profilingEndocrinologymedicine.anatomical_structurebiology.proteinMice Inbred mdxOxidative metabolismMuscle hypertrophymedicine.symptom030217 neurology & neurosurgery
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ShRNA-mediated knock-down of CXCL8 inhibits tumor growth in colorectal liver metastasis.

2018

CXCL8 belongs to proinflammatory chemokines that are predominantly involved in neutrophil chemotaxis and degranulation. Several studies have suggested that secretion of CXCL8 from cancer cells have a profound effect on tumor microenvironment. In this study, in continuation to our previous work of understanding the global picture of invasion related genes in colorectal liver metastases, we clearly show an up-regulation of CXCL8 expression in the tumor cells at the invasion front as compared to the tumor cells in the inner parts of the tumor. Furthermore, ShRNA mediated down-regulation of CXCL8 resulted in inhibition of cell proliferation, viability and invasion in vitro and a near complete g…

musculoskeletal diseases0301 basic medicineAngiogenesisCell SurvivalBiophysicsDown-RegulationApoptosisBiologyBiochemistryProinflammatory cytokineMetastasis03 medical and health sciencesMice0302 clinical medicineCell Line TumormedicineAnimalsHumansNeoplasm InvasivenessAmino Acid SequenceRNA MessengerRNA Small InterferingMolecular BiologyProtein kinase BConserved SequenceCell ProliferationTumor microenvironmentInterleukin-8Liver NeoplasmsCell Biologymedicine.diseaseXenograft Model Antitumor AssaysUp-RegulationGene Expression Regulation NeoplasticVascular endothelial growth factor A030104 developmental biologyTumor progression030220 oncology & carcinogenesisGene Knockdown TechniquesCancer cellCancer researchColorectal NeoplasmsBiochemical and biophysical research communications
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Myotonic dystrophy: candidate small molecule therapeutics

2017

Myotonic dystrophy type 1 (DM1) is a rare multisystemic neuromuscular disorder caused by expansion of CTG trinucleotide repeats in the noncoding region of the DMPK gene. Mutant DMPK transcripts are toxic and alter gene expression at several levels. Chiefly, the secondary structure formed by CUGs has a strong propensity to capture and retain proteins, like those of the muscleblind-like (MBNL) family. Sequestered MBNL proteins cannot then fulfill their normal functions. Many therapeutic approaches have been explored to reverse these pathological consequences. Here, we review the myriad of small molecules that have been proposed for DM1, including examples obtained from computational rational …

musculoskeletal diseases0301 basic medicineTherapeutic gene modulationcongenital hereditary and neonatal diseases and abnormalitiesMutantComputational biologyBiologyMyotonic dystrophyMyotonin-Protein Kinase03 medical and health sciences0302 clinical medicineTrinucleotide RepeatsDrug DiscoveryGene expressionmedicineAnimalsHumansMyotonic DystrophyGenePharmacologyRegulation of gene expressionGeneticsDrug RepositioningRational designmedicine.diseaseSmall moleculeHigh-Throughput Screening Assays030104 developmental biologyGene Expression RegulationDrug Design030217 neurology & neurosurgeryDrug Discovery Today
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Derepressing muscleblind expression by miRNA sponges ameliorates myotonic dystrophy-like phenotypes in Drosophila

2016

AbstractMyotonic Dystrophy type 1 (DM1) originates from alleles of the DMPK gene with hundreds of extra CTG repeats in the 3′ untranslated region (3′ UTR). CUG repeat RNAs accumulate in foci that sequester Muscleblind-like (MBNL) proteins away from their functional target transcripts. Endogenous upregulation of MBNL proteins is, thus, a potential therapeutic approach to DM1. Here we identify two miRNAs, dme-miR-277 and dme-miR-304, that differentially regulate muscleblind RNA isoforms in miRNA sensor constructs. We also show that their sequestration by sponge constructs derepresses endogenous muscleblind not only in a wild type background but also in a DM1 Drosophila model expressing non-co…

musculoskeletal diseases0301 basic medicineUntranslated regioncongenital hereditary and neonatal diseases and abnormalitiesMotor ActivityBiologyMyotonic dystrophyArticle03 medical and health sciences0302 clinical medicineRNA IsoformsmicroRNAmedicineAnimalsDrosophila ProteinsMyotonic DystrophyRegulation of gene expressionGeneticsMultidisciplinaryWild typeNuclear Proteinsmedicine.diseaseMicroRNAsDrosophila melanogasterPhenotype030104 developmental biologyGene Expression RegulationFlight AnimalTrinucleotide Repeat ExpansionTrinucleotide repeat expansion030217 neurology & neurosurgeryDrosophila ProteinScientific Reports
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Expanded CCUG repeat RNA expression in Drosophila heart and muscle trigger Myotonic Dystrophy type 1-like phenotypes and activate autophagocytosis ge…

2016

AbstractMyotonic dystrophies (DM1–2) are neuromuscular genetic disorders caused by the pathological expansion of untranslated microsatellites. DM1 and DM2, are caused by expanded CTG repeats in the 3′UTR of the DMPK gene and CCTG repeats in the first intron of the CNBP gene, respectively. Mutant RNAs containing expanded repeats are retained in the cell nucleus, where they sequester nuclear factors and cause alterations in RNA metabolism. However, for unknown reasons, DM1 is more severe than DM2. To study the differences and similarities in the pathogenesis of DM1 and DM2, we generated model flies by expressing pure expanded CUG ([250]×) or CCUG ([1100]×) repeats, respectively, and compared …

musculoskeletal diseases0301 basic medicinecongenital hereditary and neonatal diseases and abnormalitiesRNA SplicingScienceGene ExpressionBiologyMyotonic dystrophyMyotonin-Protein KinaseArticle03 medical and health sciencesGene expressionAutophagymedicineAnimalsMyotonic DystrophyMuscle SkeletalGeneDNA Repeat ExpansionMultidisciplinaryMyocardiumQRIntronRNAArrhythmias CardiacDNA Repeat Expansionmedicine.diseaseMolecular biologyDisease Models AnimalCell nucleus030104 developmental biologymedicine.anatomical_structureRNA splicingMedicineDrosophilaLocomotionScientific Reports
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Influence of the anti-inflammatory cytokine interleukin-4 on human joint capsule myofibroblasts

2016

Post-traumatic joint contracture was reported to be associated with elevated numbers of contractile myofibroblasts (MFs) in the healing capsule. During the physiological healing process, the number of MFs declines; however, in fibroconnective disorders, MFs persist. The manifold interaction of the cytokines regulating the appearance and persistence of MFs in the pathogenesis of joint contracture remains to be elucidated. The objective of our current study was to analyze the impact of the anti-inflammatory cytokine interleukin (IL)-4 on functional behavior of MFs. Cells were isolated from human joint capsule specimens and challenged with three different concentrations of IL-4 with or without…

musculoskeletal diseases0301 basic medicinemedicine.medical_treatmentInterleukinBiology03 medical and health sciences030104 developmental biology0302 clinical medicinemedicine.anatomical_structureCytokineJoint capsuleGene expressionImmunologyCancer researchmedicineOrthopedics and Sports MedicineJoint ContractureReceptorMyofibroblastInterleukin 4030215 immunologyJournal of Orthopaedic Research
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Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR.

2003

Mutations in genes coding for the dystrophin-glycoprotein complex (DGC) cause inherited muscular dystrophies (MD), including Morbus Duchenne (DMD) and M. Becker (BMB) as well as limb-girdle muscular dystrophies (LGMD). New insights into the pathophysiology of the dystrophic muscle, the identification of compensatory mechanisms and additional proteins interacting with dystrophin are essential for developing new treatments. In order to define molecular mechanisms induced by lack of dystrophin and the subsequent counter-regulatory transcriptional response of degenerating muscle fibres, we have investigated the mRNA expression of 19 functionally linked genes in biopsies of patients with MD by m…

musculoskeletal diseasesAdultMaleAdolescentTranscription GeneticGene Expressionmedicine.disease_causeMuscular DystrophiesStatistics NonparametricDystrophinGenetic linkageGene expressionmedicineHumansRNA MessengerMuscular dystrophyChildGeneGlycoproteinsMutationbiologyReverse Transcriptase Polymerase Chain ReactionGene Expression ProfilingMusclesMiddle Agedmedicine.diseaseCell biologyGene expression profilingMuscular Dystrophy DuchenneNeurologyChild PreschoolMutationbiology.proteinFemaleNeurology (clinical)DystrophinNeuroscienceLimb-girdle muscular dystrophyJournal of neurology
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Mouse CSB protein is important for gene expression in the presence of a single-strand break in the non-transcribed DNA strand.

2010

CSB protein is required for strand-specific repair of bulky DNA lesions in transcribed genes and mediates transcription recovery after exposure to DNA-damaging agents. We enzymatically generated DNA single-strand breaks (SSBs) with 3'-OH and 5'-phosphate termini in defined positions of a plasmid-borne gene and measured their effect on transcription in cell lines with different statuses of the Csb gene. A single SSB in the transcribed region of the gene caused significant decrease of gene expression. In all tested cell lines of mouse and human origin, a SSB in the transcribed DNA strand was less harmful for gene expression than a SSB situated in the opposing DNA strand. CSB deficiency exhibi…

musculoskeletal diseasesBase SequenceDNA damageDNA Single-StrandedGene ExpressionCell BiologyBiologyBiochemistryMolecular biologychemistry.chemical_compoundMiceDNA Repair EnzymeschemistryTranscription (biology)Cell cultureCoding strandGene expressionAnimalsPoly-ADP-Ribose Binding ProteinsMolecular BiologyGeneDNATranscription bubbleDNA DamageDNA PrimersDNA repair
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