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showing 10 items of 3080 documents

Relevance of NADH Dehydrogenase and Alternative Two-Enzyme Systems for Growth of Corynebacterium glutamicum With Glucose, Lactate, and Acetate

2021

The oxidation of NADH with the concomitant reduction of a quinone is a crucial step in the metabolism of respiring cells. In this study, we analyzed the relevance of three different NADH oxidation systems in the actinobacterial model organism Corynebacterium glutamicum by characterizing defined mutants lacking the non-proton-pumping NADH dehydrogenase Ndh (Δndh) and/or one of the alternative NADH-oxidizing enzymes, L-lactate dehydrogenase LdhA (ΔldhA) and malate dehydrogenase Mdh (Δmdh). Together with the menaquinone-dependent L-lactate dehydrogenase LldD and malate:quinone oxidoreductase Mqo, the LdhA-LldD and Mdh-Mqo couples can functionally replace Ndh activity. In glucose minimal medium…

0301 basic medicineHistologylcsh:Biotechnologyrespiratory chain030106 microbiologyMutantBiomedical EngineeringRespiratory chainmalate dehydrogenaseBioengineeringDehydrogenaseMalate dehydrogenaseCorynebacterium glutamicum03 medical and health scienceschemistry.chemical_compoundNAD+/NADH ratioddc:570lcsh:TP248.13-248.65Lactate dehydrogenaseOriginal ResearchbiologyWild typeNADH dehydrogenaseBioengineering and BiotechnologyNADH dehydrogenaselactate dehydrogenaseSugR030104 developmental biologyBiochemistrychemistrybiology.proteinmalate:quinone oxidoreductaseBiotechnologyFrontiers in Bioengineering and Biotechnology
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Obstacles and opportunities in the functional analysis of extracellular vesicle RNA - an ISEV position paper

2017

The release of RNA-containing extracellular vesicles (EV) into the extracellular milieu has been demonstrated in a multitude of different in vitro cell systems and in a variety of body fluids. RNA-containing EV are in the limelight for their capacity to communicate genetically encoded messages to other cells, their suitability as candidate biomarkers for diseases, and their use as therapeutic agents. Although EV-RNA has attracted enormous interest from basic researchers, clinicians, and industry, we currently have limited knowledge on which mechanisms drive and regulate RNA incorporation into EV and on how RNA-encoded messages affect signalling processes in EV-targeted cells. Moreover, EV-R…

0301 basic medicineHistologymedia_common.quotation_subjectmRNAnon-coding RNAexosomesBiologyExosomesArticle03 medical and health sciencesQuantificationSettore BIO/10 - BiochimicaJournal ArticleMRNAexosomeOriginal Research Articleddc:610Functionlcsh:QH573-671Function (engineering)Non-coding RNAmedia_commonfunctionlcsh:CytologySortingRNAExtracellular vesicleCell BiologyExtracellular vesiclesNon-coding RNAData scienceRNA binding proteinquantificationExtracellular vesicles; RNA binding proteins; exosomes; function; mRNA; non-coding RNA; quantification; sortingCell biologyVariety (cybernetics)030104 developmental biologySignallingPosition paperRNA binding proteinsExtracellular vesicleExtracellular vesicles; Exosomes; Non-coding RNA; mRNA; Function; Sorting; RNA binding proteins; QuantificationFunctional analysis (psychology)sortingJournal of Extracellular Vesicles
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Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatri…

2017

Heritable predisposition is an important cause of cancer in children and adolescents. Although a large number of cancer predisposition genes and their associated syndromes and malignancies have already been described, it appears likely that there are more pediatric cancer patients in whom heritable cancer predisposition syndromes have yet to be recognized. In a consensus meeting in the beginning of 2016, we convened experts in Human Genetics and Pediatric Hematology/Oncology to review the available data, to categorize the large amount of information, and to develop recommendations regarding when a cancer predisposition syndrome should be suspected in a young oncology patient. This review su…

0301 basic medicineHistoryMedizinGene Expression0302 clinical medicineNeoplasm Proteins/geneticsNeoplasmsChildGenetics (clinical)Societies Medicalddc:618HematologyJuvenile myelomonocytic leukemiaCancer predispositionSyndromeFocus Groups21st Century3. Good healthNeoplasm Proteins030220 oncology & carcinogenesisHematologic NeoplasmsGenetic Testing/methodsmedicine.medical_specialtyAdolescentGenetics MedicalGenetic CounselingHistory 21st CenturyMedical/history/instrumentation/methodsFamilial adenomatous polyposis03 medical and health sciencesInternal medicineGeneticsmedicineHumansFocus Groups/methodsGenetic Predisposition to DiseaseGenetic TestingIntensive care medicineGenetic Counseling/ethicsbusiness.industryHematologic Neoplasms/diagnosis/genetics/pathologyCancermedicine.diseasePediatric cancerHuman genetics030104 developmental biologyLi–Fraumeni syndromeNeoplasms/diagnosis/genetics/pathologyMutationMedical/historySocietiesbusinessAmerican journal of medical genetics. Part A
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Telomerase and pluripotency factors jointly regulate stemness in pancreatic cancer stem cells

2021

© 2021 by the authors.

0301 basic medicineHomeobox protein NANOGCancer ResearchTelomerasePancreatic neoplasmsMedicinaBiologyStammzelleArticle03 medical and health sciences0302 clinical medicineSOX2Cancer stem cellPancreatic cancermedicineddc:610BauchspeicheldrüsenkrebsStemnessTelomeraseRC254-282Telomere lengthPancreas; CancerCancer stem cellsNeoplastic stem cellsCancer stem cells; Pancreatic cancer; Self-renewal; Stemness; Telomerase; Telomere lengthNeoplasms. Tumors. Oncology. Including cancer and carcinogensPancreatic cancermedicine.disease3. Good healthTelomere030104 developmental biologyOncologyKLF4030220 oncology & carcinogenesisCancer researchSelf-renewalStem cellDDC 610 / Medicine & health
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Inhibition of tetraspanin functions impairs human papillomavirus and cytomegalovirus infections

2018

Tetraspanins are suggested to regulate the composition of cell membrane components and control intracellular transport, which leaves them vulnerable to utilization by pathogens such as human papillomaviruses (HPV) and cytomegaloviruses (HCMV) to facilitate host cell entry and subsequent infection. In this study, by means of cellular depletion, the cluster of differentiation (CD) tetraspanins CD9, CD63, and CD151 were found to reduce HPV16 infection in HeLa cells by 50 to 80%. Moreover, we tested recombinant proteins or peptides of specific tetraspanin domains on their effect on the most oncogenic HPV type, HPV16, and HCMV. We found that the C-terminal tails of CD63 and CD151 significantly i…

0301 basic medicineHuman cytomegalovirusMaleTelomeraseTetraspaninsviruses610 MedizinCytomegalovirusIC50virus entrylcsh:ChemistryTetraspanin610 Medical scienceshuman papillomaviruslcsh:QH301-705.5SpectroscopyHuman papillomavirus 16virus diseasesGeneral MedicineBiología y Biomedicina / BiologíaEntry into hostComputer Science ApplicationsCytomegalovirus Infectionsembryonic structuresIC<sub>50</sub>HPV16BiologyCatalysisArticleInorganic Chemistry03 medical and health sciencesInhibitory Concentration 50AntigenViral entrymedicineHumansddc:610Physical and Theoretical ChemistryHumanes PapillomavirusMolecular BiologyCluster of differentiationOrganic ChemistryVirus internalizationCytomegalie-VirusIC 50Human papillomavirus virusesmedicine.diseaseVirologyHaCaT030104 developmental biologytetraspaninlcsh:Biology (General)lcsh:QD1-999human cytomegalovirusPeptidesDDC 610 / Medicine &amp; healthblocking peptideHeLa Cells
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Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes

2018

Modification of SMN2 exon 7 (E7) splicing is a validated therapeutic strategy against spinal muscular atrophy (SMA). However, a target-based approach to identify small-molecule E7 splicing modifiers has not been attempted, which could reveal novel therapies with improved mechanistic insight. Here, we chose as a target the stem-loop RNA structure TSL2, which overlaps with the 5′ splicing site of E7. A small-molecule TSL2-binding compound, homocarbonyltopsentin (PK4C9), was identified that increases E7 splicing to therapeutic levels and rescues downstream molecular alterations in SMA cells. High-resolution NMR combined with molecular modelling revealed that PK4C9 binds to pentaloop conformati…

0301 basic medicineIndolesCOMPOUND LIBRARIESDrug Evaluation PreclinicalGeneral Physics and AstronomyBiotecnologiaAnimals Genetically ModifiedExonMolecular Targeted TherapyRegulatory Elements Transcriptionallcsh:ScienceHUMAN-DISEASE GENESBIOACTIVE SMALL MOLECULESMultidisciplinaryChemistryDrug discovery[CHIM.ORGA]Chemical Sciences/Organic chemistryQImidazolesMUTATION PATTERNExonsSMA*3. Good healthCell biologySurvival of Motor Neuron 2 ProteinPhenotypeCribratgeRNA splicingNUCLEOTIDE STRUCTUREDrosophilaMESSENGER-RNACOMPUTATIONAL TOOLSMedical screeningMYOTONIC-DYSTROPHYScienceMuscular atrophyArticleGeneral Biochemistry Genetics and Molecular BiologyGenètica molecularMuscular Atrophy Spinal03 medical and health sciencesddc:570SPLICING MODIFIERSmedicineAnimalsHumansHIV-1 TARRNA MessengerAtròfia muscularMessenger RNAAlternative splicingRNAGeneral ChemistrySpinal muscular atrophymedicine.diseaseAlternative Splicing030104 developmental biologyRNAlcsh:QRNA Splice SitesHeLa CellsNature Communications
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Exogenous TNFR2 activation protects from acute GvHD via host T reg cell expansion

2015

Activation of TNFR2 with a novel agonist expands T reg cells in vivo and protects allo-HCT recipients from acute GvHD while sparing antilymphoma and antiinfectious properties of transplanted donor T cells.

0301 basic medicineInterleukin 2medicine.medical_treatmentImmunologyGraft vs Host DiseaseMice Inbred Strainschemical and pharmacologic phenomenaHematopoietic stem cell transplantationBiologyT-Lymphocytes RegulatoryArticleMice03 medical and health sciencesInterleukin 21immune system diseaseshemic and lymphatic diseasesmedicineAnimalsReceptors Tumor Necrosis Factor Type IIImmunology and AllergyCytotoxic T cellddc:610Research Articlesintegumentary systemMyeloid-Derived Suppressor CellsHematopoietic Stem Cell TransplantationFOXP3hemic and immune systemsmedicine.diseaseLeukemiaddc:57030104 developmental biologysurgical procedures operativeAcute DiseaseImmunologyMyeloid-derived Suppressor CellInterleukin-2FemaleTumor necrosis factor receptor 2medicine.drug
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Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

2017

International audience; We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested associated variants (P < 1 × 10-4) in 35,962 independent samples using de novo genotyping and imputed genotypes. In stage 3, we used an additional 14,997 samples to test the most significant stage 2 associations (P < 5 × 10-8) using imputed genotypes. We observed three new genome-wide significant nonsynonymous variants associated with Alzheimer's disease: a protective variant in PLCG2 (rs72824905: p.Pro522Arg, P = 5.38 × 10-10, odds ratio (OR) = 0.68…

0301 basic medicineLinkage disequilibrium[SDV]Life Sciences [q-bio]MedizinSequence HomologyGenome-wide association studygenetics [Alzheimer Disease]metabolism [Microglia]Linkage Disequilibrium0302 clinical medicinegenetics [Protein Interaction Maps]genetics [Membrane Glycoproteins]Gene FrequencyImmunologicgenetics [Adaptor Proteins Signal Transducing]Receptorsgenetics [Exome]Odds RatioInnategenetics [Receptors Immunologic]ExomeProtein Interaction Mapsgenetics [Genetic Predisposition to Disease]Receptors ImmunologicABI3 protein humanGeneticsAdaptor Proteins Signal Transducing; Alzheimer Disease; Amino Acid Sequence; Case-Control Studies; Exome; Gene Expression Profiling; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Immunity Innate; Linkage Disequilibrium; Membrane Glycoproteins; Microglia; Odds Ratio; Phospholipase C gamma; Protein Interaction Maps; Receptors Immunologic; Sequence Homology Amino Acid; Polymorphism Single Nucleotide; GeneticsMembrane GlycoproteinsAdaptor ProteinsSingle NucleotideAdaptor Proteins Signal Transducing; Alzheimer Disease; Amino Acid Sequence; Case-Control Studies; Exome; Gene Expression Profiling; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Immunity Innate; Linkage Disequilibrium; Membrane Glycoproteins; Microglia; Odds Ratio; Phospholipase C gamma; Protein Interaction Maps; Receptors Immunologic; Sequence Homology Amino Acid; Polymorphism Single Nucleotide3. Good health[SDV] Life Sciences [q-bio]Amino AcidSettore MED/26 - NEUROLOGIAgenetics [Phospholipase C gamma][SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]MicrogliaAlzheimer's diseaseCommon disease-common variantGenotypeBiologyPolymorphism Single NucleotideArticle03 medical and health sciencesAlzheimer Diseaseddc:570medicineJournal ArticleGeneticsHumansGenetic Predisposition to Disease[SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Amino Acid SequencePolymorphismAllele frequencyAdaptor Proteins Signal TransducingTREM2 protein humanSequence Homology Amino AcidTREM2Phospholipase C gammaGene Expression ProfilingCase-control studySignal TransducingImmunitymedicine.diseaseR1Immunity InnateMinor allele frequencygenetics [Immunity Innate]030104 developmental biologyCase-Control StudiesHuman medicine030217 neurology & neurosurgery
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GRIP1 Binds to ApoER2 and EphrinB2 to Induce Activity-Dependent AMPA Receptor Insertion at the Synapse

2017

Summary Regulation of α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor trafficking in response to neuronal activity is critical for synaptic function and plasticity. Here, we show that neuronal activity induces the binding of ephrinB2 and ApoER2 receptors at the postsynapse to regulate de novo insertion of AMPA receptors. Mechanistically, the multi-PDZ adaptor glutamate-receptor-interacting protein 1 (GRIP1) binds ApoER2 and bridges a complex including ApoER2, ephrinB2, and AMPA receptors. Phosphorylation of ephrinB2 in a serine residue (Ser-9) is essential for the stability of such a complex. In vivo, a mutation on ephrinB2 Ser-9 in mice results in a complete disruption…

0301 basic medicineLong-Term PotentiationPrimary Cell CultureEphrin-B2Mice TransgenicNerve Tissue ProteinsephrinBAMPA receptorGRIP1BiologyHippocampusArticleApoER2General Biochemistry Genetics and Molecular BiologyPostsynapseMice03 medical and health sciences0302 clinical medicineddc:570SerineAnimalsReceptors AMPAPhosphorylationAMPA receptorsLong-term depressionlcsh:QH301-705.5LDL-Receptor Related ProteinsAdaptor Proteins Signal TransducingNeuronssynaptic plasticitySynaptic scalingLong-term potentiationCell biologyProtein Transport030104 developmental biologyGene Expression Regulationlcsh:Biology (General)nervous systemSynapsesSilent synapseSynaptic plasticityLTP030217 neurology & neurosurgeryIon channel linked receptorsProtein BindingSignal TransductionCell Reports
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Skeletal muscle-specific methyltransferase METTL21C trimethylates p97 and regulates autophagy-associated protein breakdown

2018

Summary: Protein aggregates and cytoplasmic vacuolization are major hallmarks of multisystem proteinopathies (MSPs) that lead to muscle weakness. Here, we identify METTL21C as a skeletal muscle-specific lysine methyltransferase. Insertion of a β-galactosidase cassette into the Mettl21c mouse locus revealed that METTL21C is specifically expressed in MYH7-positive skeletal muscle fibers. Ablation of the Mettl21c gene reduced endurance capacity and led to age-dependent accumulation of autophagic vacuoles in skeletal muscle. Denervation-induced muscle atrophy highlighted further impairments of autophagy-related proteins, including LC3, p62, and cathepsins, in Mettl21c−/− muscles. In addition, w…

0301 basic medicineMaleATPaseVacuoleProtein degradationProtein aggregationMethylationGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesMiceValosin Containing ProteinmedicineAutophagyAnimalsddc:610Muscle Skeletallcsh:QH301-705.5Mice KnockoutbiologyChemistryAutophagySkeletal muscleMuscle weaknessMethyltransferasesMuscle atrophyCell biology030104 developmental biologymedicine.anatomical_structurelcsh:Biology (General)Proteolysisbiology.proteinmedicine.symptom
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