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showing 10 items of 3116 documents

The MID1 protein is a central player during development and in disease.

2015

Loss-of-function mutations in the MID1 gene cause a rare monogenic disorder, Opitz BBB/G syndrome (OS), which is characterized by malformations of the ventral midline. The MID1 gene encodes the MID1 protein, which assembles a large microtubule-associated protein complex. Intensive research over the past several years has shed light on the function of the MID1 protein as a ubiquitin ligase and regulator of mTOR signalling and translational activator. As a central player in the cell MID1 has been implicated in the pathogenesis of various other disorders in addition to OS including cancer and neurodegenerative diseases. Influencing the activity of the MID1 protein complex is a promising new st…

0301 basic medicinephysiopathology [Huntington Disease]CarcinogenesisUbiquitin-Protein LigasesRegulatorDiseaseBiologyBioinformaticsmedicine.disease_causephysiopathology [Alzheimer Disease]Congenital AbnormalitiesPathogenesis03 medical and health sciencesMiceAlzheimer Diseasephysiology [Nuclear Proteins]medicineAnimalsHumansgenetics [Microtubule Proteins]ddc:610GenePI3K/AKT/mTOR pathwayActivator (genetics)Nuclear Proteinsgenetics [Nuclear Proteins]genetics [Transcription Factors]physiology [Transcription Factors]Ubiquitin ligase030104 developmental biologyHuntington DiseaseMutationbiology.proteinMicrotubule Proteinsphysiology [Microtubule Proteins]CarcinogenesisMid1 protein humanTranscription FactorsFrontiers in bioscience (Landmark edition)
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STRIPAK Members Orchestrate Hippo and Insulin Receptor Signaling to Promote Neural Stem Cell Reactivation

2019

Summary Adult stem cells reactivate from quiescence to maintain tissue homeostasis and in response to injury. How the underlying regulatory signals are integrated is largely unknown. Drosophila neural stem cells (NSCs) also leave quiescence to generate adult neurons and glia, a process that is dependent on Hippo signaling inhibition and activation of the insulin-like receptor (InR)/PI3K/Akt cascade. We performed a transcriptome analysis of individual quiescent and reactivating NSCs harvested directly from Drosophila brains and identified the conserved STRIPAK complex members mob4, cka, and PP2A (microtubule star, mts). We show that PP2A/Mts phosphatase, with its regulatory subunit Widerbors…

0301 basic medicinereactivationendocrine systemMitosisNerve Tissue ProteinsProtein Serine-Threonine KinasesBiologyArticleGeneral Biochemistry Genetics and Molecular BiologyAnimals Genetically ModifiedPhosphatidylinositol 3-Kinases03 medical and health sciences0302 clinical medicineNeural Stem CellsAnimalsDrosophila ProteinsquiescenceProtein Phosphatase 2lcsh:QH301-705.5Protein kinase BCells CulturedPI3K/AKT/mTOR pathwayTissue homeostasisAdaptor Proteins Signal TransducingCell ProliferationHippo signaling pathwayGene Expression ProfilingHippo signalingInR/PI3K/Akt signalingfungiIntracellular Signaling Peptides and ProteinsBrainSTRIPAK membersProtein phosphatase 2Receptor InsulinNeural stem cellCell biologyDrosophila melanogaster030104 developmental biologylcsh:Biology (General)nervous systemHippo signalingSingle-Cell AnalysisTranscriptomeProto-Oncogene Proteins c-akt030217 neurology & neurosurgeryAdult stem cellCell Reports
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Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia

2016

International audience

0301 basic medicinesignaling pathwaymedicine.medical_specialtyhrasDermatologynoonanBiologyWoolly hair nevusBiochemistry030207 dermatology & venereal diseases03 medical and health sciences0302 clinical medicine[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathologymedicineMolecular BiologyComputingMilieux_MISCELLANEOUSsyringocystadenoma papilliferumCell BiologyCortical dysplasiamedicine.diseaseDermatologyPhacomatosis pigmentokeratotica030104 developmental biologyMutation (genetic algorithm)mosaic rasopathies[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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Analysis of the Transcriptome of the Red Seaweed Grateloupia imbricata with Emphasis on Reproductive Potential

2018

Grateloupia imbricata is an intertidal marine seaweed and candidate model organism for both industry and academic research, owing to its ability to produce raw materials such as carrageenan. Here we report on the transcriptome of G. imbricata with the aim of providing new insights into the metabolic pathways and other functional pathways related to the reproduction of Grateloupia species. Next-generation sequencing was carried out with subsequent de novo assembly and annotation using state-of-the-art bioinformatic protocols. The results show the presence of transcripts required for the uptake of glycerol, which is a specific carbon source for in vitro culture of G. imbricata and nucleotide …

0301 basic medicineved/biology.organism_classification_rank.speciescarbon sourcesPharmaceutical ScienceRed algaetranscriptome shotgun assemblyreproductionTranscriptome03 medical and health scienceschemistry.chemical_compoundBiosynthesisgrowth regulatorsDrug DiscoveryModel organismlcsh:QH301-705.5Pharmacology Toxicology and Pharmaceutics (miscellaneous)red algaeMethyl jasmonatebiologyved/biologybiology.organism_classificationSporeMetabolic pathway030104 developmental biologylcsh:Biology (General)chemistryBiochemistryPolyamineMarine Drugs
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Modulation of Hippocampal Circuits by Muscarinic and Nicotinic Receptors

2017

This article provides a review of the effects of activation of muscarinic and nicotinic receptors on the physiological properties of circuits in the hippocampal formation. Previous articles have described detailed computational hypotheses about the role of cholinergic neuromodulation in enhancing the dynamics for encoding in cortical structures and the role of reduced cholinergic modulation in allowing consolidation of previously encoded information. This article will focus on addressing the broad scope of different modulatory effects observed within hippocampal circuits, highlighting the heterogeneity of cholinergic modulation in terms of the physiological effects of activation of muscarin…

0301 basic medicinevolume transmissioncholinergic fibersCognitive NeuroscienceNeuroscience (miscellaneous)ReviewHippocampal formationReceptors NicotinicCholinergic modulationHippocampuslcsh:RC321-571tonic depolarization03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineNeuromodulationMuscarinic acetylcholine receptorNeural PathwaysmedicineAnimalsHumanslcsh:Neurosciences. Biological psychiatry. NeuropsychiatryCholinergic FibersNicotinic ReceptorsChemistrypresynaptic inhibitionReceptors MuscarinicacetylcholineSensory Systems030104 developmental biologymedicine.anatomical_structureCholinergicNeuroscience030217 neurology & neurosurgeryAcetylcholinemedicine.drugNeuroscienceFrontiers in Neural Circuits
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The Role of p53 Signaling in Colorectal Cancer.

2021

Simple Summary The transcription factor p53 is a crucial tumor suppressor that regulates diverse cellular responses to protect against cancer development. Deactivating p53 signaling either by altering p53 regulators or by p53 mutations occurs frequently in human colorectal carcinoma (CRC). Forty-three percent of CRCs harbor p53 mutations that reduce wild-type p53 tumor suppressor activity and often provide neo-morphic functions, which contribute to tumorigenesis. In this review, we summarize wild-type p53 signaling, how it can be deregulated in CRC, and the functional and phenotypical effects of p53 mutations. We also discuss current therapeutic strategies of targeting p53. Abstract The tra…

0301 basic medicinewild type p53Cancer ResearchDNA repairCellular differentiationcolorectal cancerReview03 medical and health sciences0302 clinical medicinemedicineTranscription factorRC254-282gain-of-functionbiologyCell growthmutant p53CancerNeoplasms. Tumors. Oncology. Including cancer and carcinogensmedicine.diseaseUbiquitin ligasep53 signaling030104 developmental biologyOncology030220 oncology & carcinogenesisCancer cellbiology.proteinCancer researchMdm2cancer therapyp53 pathwayCancers
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alpha 2-COP is involved in early secretory traffic in Arabidopsis and is required for plant growth

2017

[EN] COP (coat protein) I-coated vesicles mediate intra-Golgi transport and retrograde transport from the Golgi to the endoplasmic reticulum. These vesicles form through the action of the small GTPase ADP-ribosylation factor 1 (ARF1) and the COPI heptameric protein complex (coatomer), which consists of seven subunits (alpha-, beta-, beta' -, gamma-, delta-, epsilon- and xi-COP). In contrast to mammals and yeast, several isoforms for coatomer subunits, with the exception of gamma and delta, have been identified in Arabidopsis. To understand the role of COPI proteins in plant biology, we have identified and characterized a loss-of-function mutant of alpha 2-COP, an Arabidopsis alpha-COP isofo…

0301 basic medicineα2-COPPhysiologyUbiquitin-Protein LigasesProtein subunitMutantSEC31ArabidopsisPlant ScienceEndoplasmic ReticulumCoatomer ProteinP24 family protein03 medical and health sciencessymbols.namesakeBotanyBIOQUIMICA Y BIOLOGIA MOLECULARCOPIICOPIISecretory pathwayCOPICoat proteinArabidopsis ProteinsChemistryEndoplasmic reticulumAlpha 2-COPBiological TransportCOPIGolgi apparatusSEC31.Cell biologyAlpha 1-COPα1-COP030104 developmental biologyCoatomerGolgi apparatussymbolsCOPII Golgi apparatusResearch Paper
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Guidelines Have a Key Role in Driving HCV Elimination by Advocating for Simple HCV Care Pathways.

2021

The availability of pangenotypic direct-acting antivirals for treatment of hepatitis C (HCV) has provided an opportunity to simplify patient pathways. Recent clinical practice guidelines have recognised the need for simplification to ensure that elimination of HCV as a public health concern remains a priority. Despite the move towards simplified treatment algorithms, there remains some complexity in the recommendations for the management of genotype 3 patients with compensated cirrhosis. In an era where additional clinical trial data are not anticipated, clinical guidance should consider experience gained in real-world settings. Although more experience is required for some pangenotypic the…

030213 general clinical medicinemedicine.medical_specialtyCoronavirus disease 2019 (COVID-19)EliminationGuidelineGuidelinesGlobal HealthAntiviral AgentsPatient pathwaySimplification03 medical and health sciences0302 clinical medicinePandemicGlobal healthMedicineHumansPharmacology (medical)Disease EradicationIntensive care medicineAntiviral Agentbusiness.industrySARS-CoV-2Public healthCOVID-19General MedicineHepatitis CHcv eliminationClinical trialCritical Pathway030220 oncology & carcinogenesisCommunicable Disease ControlPractice Guidelines as TopicKey (cryptography)Critical PathwaysCommentarybusinessHumanAdvances in therapy
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2019

Mitochondria have been increasingly recognized as a central regulatory nexus for multiple metabolic pathways, in addition to ATP production via oxidative phosphorylation (OXPHOS). Here we show that inducing mitochondrial DNA (mtDNA) stress in Drosophila using a mitochondrially-targeted Type I restriction endonuclease (mtEcoBI) results in unexpected metabolic reprogramming in adult flies, distinct from effects on OXPHOS. Carbohydrate utilization was repressed, with catabolism shifted towards lipid oxidation, accompanied by elevated serine synthesis. Cleavage and translocation, the two modes of mtEcoBI action, repressed carbohydrate rmetabolism via two different mechanisms. DNA cleavage activ…

0303 health sciencesCancer ResearchCatabolismMetabolismOxidative phosphorylationBiologyMitochondrionPyruvate dehydrogenase complexCell biology03 medical and health sciencesMetabolic pathway0302 clinical medicineLipid oxidationGeneticsSignal transductionMolecular Biology030217 neurology & neurosurgeryGenetics (clinical)Ecology Evolution Behavior and Systematics030304 developmental biologyPLOS Genetics
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The Hippo Show Must Go On: YAP Activation as a Therapeutic Strategy in Colorectal Cancer

2020

The role of Hippo pathway in colorectal cancer (CRC) initiation and progression has been controversial. In this issue of Cell Stem Cell, Cheung et al. (2020) shed new light on a distinct function of the transcriptional co-activator YAP as a tumor suppressor and Wnt pathway inhibitor in CRC.

0303 health sciencesHippo signaling pathwayColorectal cancerCellWnt signaling pathwayCell BiologyBiologymedicine.diseasedigestive system diseaseslaw.invention03 medical and health sciences0302 clinical medicinemedicine.anatomical_structurelawGeneticsmedicineCancer researchMolecular MedicineSuppressorYAP colorectal cancer Hippo pathway Wnt pathwayStem cellTranscription factor030217 neurology & neurosurgeryFunction (biology)030304 developmental biologyCell Stem Cell
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