Search results for "Transducin"

showing 10 items of 169 documents

Evidence for a common origin of most Friedreich ataxia chromosomes in the Spanish population

1996

Haplotype analysis is a powerful approach to understand the spectrum of mutations accounting for a disease in a homogeneous population. We show that haplotype variation for 10 markers linked to the Friedreich ataxia locus (FRDA) argues in favor of an important mutation homogeneity in the Spanish population, and positions the FRDA locus in the region where it has been recently isolated. We also report the finding of a new single nucleotide polymorphism called FAD1. The new marker shows a very strong linkage disequilibrium with Friedreich ataxia (FA) in both the Spanish and French populations. suggesting the existence of an ancient and widespread FRDA mutations. Inclusion of FAD1 in the exten…

Genetic MarkersLinkage disequilibriumAtaxiaMolecular Sequence DataPopulationNerve Tissue ProteinsSingle-nucleotide polymorphismLocus (genetics)BiologyLinkage DisequilibriumTrinucleotide RepeatsGeneticsmedicineHumanseducationPhylogenyGenetics (clinical)Adaptor Proteins Signal TransducingGeneticseducation.field_of_studyPolymorphism GeneticBase SequenceHaplotypeIntronChromosome MappingIntronsHaplotypesFriedreich AtaxiaSpainGenetic markerMutationFrancemedicine.symptom
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Lrp4, a Novel Receptor for Dickkopf 1 and Sclerostin, Is Expressed by Osteoblasts and Regulates Bone Growth and Turnover In Vivo

2009

Lrp4 is a multifunctional member of the low density lipoprotein-receptor gene family and a modulator of extracellular cell signaling pathways in development. For example, Lrp4 binds Wise, a secreted Wnt modulator and BMP antagonist. Lrp4 shares structural elements within the extracellular ligand binding domain with Lrp5 and Lrp6, two established Wnt co-receptors with important roles in osteogenesis. Sclerostin is a potent osteocyte secreted inhibitor of bone formation that directly binds Lrp5 and Lrp6 and modulates both BMP and Wnt signaling. The anti-osteogenic effect of sclerostin is thought to be mediated mainly by inhibition of Wnt signaling through Lrp5/6 within osteoblasts. Dickkopf1 …

Genetic Markersmusculoskeletal diseasesmedicine.medical_specialtylcsh:MedicineBiologyBone morphogenetic proteinBone and BonesCell LineMicechemistry.chemical_compoundInternal medicineBiochemistry/Cell Signaling and Trafficking StructuresmedicineAnimalsHumanslcsh:ScienceLDL-Receptor Related ProteinsAdaptor Proteins Signal TransducingGlycoproteinsBone growthBone DevelopmentOsteoblastsMultidisciplinarylcsh:RWnt signaling pathwayLRP6Rheumatology/Bone and Mineral MetabolismLRP5OsteoblastPhenotypemedicine.anatomical_structureEndocrinologyGene Expression RegulationReceptors LDLGenetics and Genomics/Disease ModelschemistryOsteocyteBone Morphogenetic ProteinsIntercellular Signaling Peptides and ProteinsSclerostinlcsh:QSignal TransductionResearch ArticlePLoS ONE
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Usher syndrome: molecular links of pathogenesis, proteins and pathways.

2006

Contains fulltext : 50437.pdf (Publisher’s version ) (Closed access) Usher syndrome is the most common form of deaf-blindness. The syndrome is both clinically and genetically heterogeneous, and to date, eight causative genes have been identified. The proteins encoded by these genes are part of a dynamic protein complex that is present in hair cells of the inner ear and in photoreceptor cells of the retina. The localization of the Usher proteins and the phenotype in animal models indicate that the Usher protein complex is essential in the morphogenesis of the stereocilia bundle in hair cells and in the calycal processes of photoreceptor cells. In addition, the Usher proteins are important in…

Genetics and epigenetic pathways of disease [NCMLS 6]Usher syndromeCell Cycle ProteinsNerve Tissue ProteinsBiologyRetinaAdherens junctionMiceHair Cells AuditoryCell polarityGeneticsmedicineotorhinolaryngologic diseasesNeurosensory disorders [UMCN 3.3]AnimalsHumansProtein IsoformsCell Cycle ProteinMolecular BiologyGenetics (clinical)Renal disorder [IGMD 9]Adaptor Proteins Signal TransducingStereociliumMembrane ProteinsSignal transducing adaptor proteinGeneral MedicineActin cytoskeletonmedicine.diseaseeye diseasesCell biologyCytoskeletal ProteinsGenetic defects of metabolism [UMCN 5.1]Ear InnerMultiprotein ComplexesCateninSynapsessense organsUsher SyndromesPhotoreceptor Cells Vertebrate
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Msb2 is a Ste11 membrane concentrator required for full activation of the HOG pathway.

2015

The high osmolarity glycerol (HOG) pathway, composed of membrane-associated osmosensors, adaptor proteins and core signaling kinases, is essential for the survival of yeast cells under hyper-osmotic stress. Here, we studied how the MAPKKK Ste11 might change its protein interaction profile during acute stress exposure, with an emphasis on the sensory system of the so-called Sho1/Msb2 signaling branch. To characterize the transience of protein-protein interactions we utilized a recently described enzymatic in vivo protein proximity assay (M-track). Accordingly, interaction signals between Ste11 and many of its signaling partners can already be detected even under basal conditions. In most cas…

GlycerolSaccharomyces cerevisiae ProteinsOsmotic shockBiophysicsSaccharomyces cerevisiaeBiologyBiochemistryStructural BiologyOsmotic PressureNegative feedbackGeneticsProtein Interaction MapsMolecular Biologychemistry.chemical_classificationFeedback PhysiologicalMAP kinase kinase kinaseKinaseOsmolar ConcentrationIntracellular Signaling Peptides and ProteinsSignal transducing adaptor proteinMembrane ProteinsMAP Kinase Kinase KinasesYeastCell biologyEnzymechemistryFunction (biology)Signal TransductionBiochimica et biophysica acta
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γ2-Adaptin, a Novel Ubiquitin-interacting Adaptor, and Nedd4 Ubiquitin Ligase Control Hepatitis B Virus Maturation

2006

Hepatitis B virus (HBV) budding from infected cells is a tightly regulated process that requires both core and envelope structures. Here we report that HBV uses cellular γ2-adaptin and Nedd4, possibly in conjunction with ubiquitin, to coordinate its assembly and release. In search of interaction partners of the viral L envelope protein, we previously discovered γ2-adaptin, a putative endosomal sorting and trafficking adaptor of the adaptor protein complex family. We now demonstrate that the viral core interacts with the same γ2-adaptor and that disruption of the HBV/γ2-adaptin interactions inhibits virus production. Mutational analyses revealed a hitherto unknown ubiquitin-binding activity …

Hepatitis B virusbiologyEndosomeSignal transducing adaptor proteinDNA virusNEDD4Cell Biologymedicine.disease_causeBiochemistryMolecular biologyProtein ubiquitinationUbiquitin ligaseUbiquitinbiology.proteinmedicineMolecular BiologyJournal of Biological Chemistry
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Apoptosis induced by (E)-5-(2-bromovinyl)-2'-deoxyuridine in varicella zoster virus thymidine kinase-expressing cells is driven by activation of c-Ju…

2003

The molecular mode of cell killing by the antiviral drug (E)-5-(2-bromovinyl-2'-deoxyuridine (BVDU) was studied in Chinese hamster ovary (CHO) cells stably transfected with the thymidine kinase gene (tk) of varicella zoster virus (CHO-VZVtk). The colony-forming ability of the cells was reduced to <1% at a concentration of approximately 1 microM BVDU, whereas for nontransfected cells or cells transfected with tk gene of herpes simplex virus type 1 (CHO-HSVtk), a 1000-fold higher dose was required to achieve the same response. BVDU inhibited thymidylate synthase in CHO-VZVtk but not in CHO-HSVtk and control cells. On the other hand, the drug was incorporated into DNA of VZVtk- and HSVtk-expre…

Herpesvirus 3 HumanFas Ligand ProteinFas-Associated Death Domain ProteinApoptosisCHO CellsBiologyTransfectionAntiviral AgentsThymidine KinaseFas ligandchemistry.chemical_compoundNecrosisCricetinaeCytotoxic T cellAnimalsSimplexvirusAdaptor Proteins Signal TransducingPharmacologyCaspase 8GenomeMembrane GlycoproteinsChinese hamster ovary cellCell CycleJNK Mitogen-Activated Protein KinasesTransfectionDNAThymidylate SynthaseMolecular biologyCaspase 9Transcription Factor AP-1Cell killingchemistryBromodeoxyuridineApoptosisThymidine kinaseCaspasesMolecular MedicineMitogen-Activated Protein KinasesCarrier ProteinsBromodeoxyuridineMolecular pharmacology
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Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption

2015

Contains fulltext : 155360.pdf (Publisher’s version ) (Closed access) Coffee, a major dietary source of caffeine, is among the most widely consumed beverages in the world and has received considerable attention regarding health risks and benefits. We conducted a genome-wide (GW) meta-analysis of predominately regular-type coffee consumption (cups per day) among up to 91,462 coffee consumers of European ancestry with top single-nucleotide polymorphisms (SNPs) followed-up in ~30 062 and 7964 coffee consumers of European and African-American ancestry, respectively. Studies from both stages were combined in a trans-ethnic meta-analysis. Confirmed loci were examined for putative functional and b…

INVOLVEMENTNetherlands Twin Register (NTR)GCKR protein humanPROTEINGenome-wide association studyVARIANTSgenetics [Brain-Derived Neurotrophic Factor]chemistry.chemical_compound0302 clinical medicinePolymorphism (computer science)genetics [Adaptor Proteins Signal Transducing]BINDINGBRAINGenetics0303 health sciencesBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsDisorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]3. Good healthPsychiatry and Mental healthPhenotypegenetics [Polymorphism Single Nucleotide]/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beinggenetics [Cytochrome P-450 CYP1A2]CaffeineCAFFEINESingle-nucleotide polymorphismBiologyArticle03 medical and health sciencesCellular and Molecular NeuroscienceSDG 3 - Good Health and Well-beingCytochrome P-450 CYP1A2/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_SNPHumansddc:610Allelegenetics [Basic Helix-Loop-Helix Leucine Zipper Transcription Factors]Molecular Biology030304 developmental biologyAdaptor Proteins Signal TransducingMLXIPL protein humanRECEPTORBrain-Derived Neurotrophic FactorCoffeata1182Feeding Behaviorbiology.organism_classificationta3124BDNFchemistryBehavioral medicineDevelopmental Psychopathology030217 neurology & neurosurgeryGLUCOKINASEmetabolism [Coffea]Genome-Wide Association StudyMolecular Psychiatry
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Dissection of human papillomavirus type 33 L2 domains involved in nuclear domains (ND) 10 homing and reorganization

2003

Abstract We have recently shown that the minor capsid protein L2 of human papillomavirus type 33 (HPV33) recruits the transcriptional repressor Daxx into nuclear domains (ND) 10 and causes the loss of the transcriptional activator Sp100 from these subnuclear structures (Florin et al., 2002b) . In order to dissect L2 domains involved in nuclear translocation, ND10 homing, loss of Sp100, and recruitment of Daxx, a detailed deletion mutagenesis of L2 was performed. Using immunofluorescence and green fluorescent protein fusions, we have identified two nuclear localization signals (NLS) in the central and C-terminal part of L2, respectively, homologous to previously identified NLS in HPV6B L2 (S…

ImmunoprecipitationRecombinant Fusion ProteinsGreen Fluorescent ProteinsNuclear Localization SignalsActive Transport Cell NucleusFluorescent Antibody TechniqueBiologyImmunofluorescenceAutoantigensGreen fluorescent proteinDeath-associated protein 6DaxxVirologyTumor Cells CulturedmedicineSp100HumansNLSPapillomaviridaeAdaptor Proteins Signal TransducingCell Nucleusmedicine.diagnostic_testIntracellular Signaling Peptides and ProteinsND10Nuclear ProteinsAntigens NuclearL2Oncogene Proteins ViralPapillomavirusbiochemical phenomena metabolism and nutritionMolecular biologyDeletion MutagenesisLuminescent ProteinsCapsidMutagenesisCapsid ProteinsCarrier ProteinsCo-Repressor ProteinsGene DeletionNuclear localization sequenceMolecular ChaperonesVirology
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Innate Immune Defense of the Sponge Suberites domuncula against Bacteria Involves a MyD88-dependent Signaling Pathway

2005

Sponges (phylum Porifera) are the phylogenetically oldest metazoa; as filter feeders, they are abundantly exposed to marine microorganisms. Here we present data indicating that the demosponge Suberites domuncula is provided with a recognition system for Gram-negative bacteria. The lipopolysaccharide (LPS)-interacting protein was identified as a receptor on the sponge cell surface, which recognizes the bacterial endotoxin LPS. The cDNA was isolated, and the protein (Mr 49,937) was expressed. During binding to LPS, the protein dimerizes and interacts with MyD88, which was also identified and cloned. The sponge MyD88 (Mr 28,441) is composed of two protein interaction domains, a Toll/interleuki…

Innate immune systembiologyPattern recognition receptorSignal transducing adaptor proteinCell Biologybiology.organism_classificationBiochemistryMicrobiologyCell biologySuberites domunculaProtein structureSignal transductionReceptorMolecular BiologyDeath domainJournal of Biological Chemistry
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Pore-forming Staphylococcus aureus alpha-toxin triggers epidermal growth factor receptor-dependent proliferation.

2006

Staphylococcal alpha-toxin is an archetypal killer protein that homo-oligomerizes in target cells to create small transmembrane pores. The membrane-perforating beta-barrel motif is a conserved attack element of cytolysins of Gram-positive and Gram-negative bacteria. Following the recognition that nucleated cells can survive membrane permeabilization, a profile of abundant transcripts was obtained in transiently perforated keratinocytes. Several immediate early genes were found to be upregulated, reminiscent of the cellular response to growth factors. Cell cycle analyses revealed doubling of S + G2/M phase cells 26 h post toxin treatment. Determination of cell counts uncovered that after an …

KeratinocytesStaphylococcus aureusSrc Homology 2 Domain-Containing Transforming Protein 1ImmunologyCellBacterial ToxinsBlotting WesternFluorescent Antibody TechniqueTransfectionMicrobiologyCell LineHemolysin ProteinsDownregulation and upregulationNucleated cellVirologymedicineHumansGrowth factor receptor inhibitorEpidermal growth factor receptorStaphylococcus aureus alpha toxinAdaptor Proteins Signal TransducingCell Line TransformedCell ProliferationbiologyCytotoxinsReverse Transcriptase Polymerase Chain ReactionGene Expression ProfilingCell CycleCell cycleFlow CytometryTransmembrane proteinCell biologyErbB Receptorsmedicine.anatomical_structureShc Signaling Adaptor Proteinsbiology.proteinMitogensSignal TransductionCellular microbiology
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