Search results for "Muscle proteins"

showing 10 items of 76 documents

Immunohistochemical marker for Na+ CP type Vα (C-20) and heterozygous nonsense SCN5A mutation W822X in a sudden cardiac death induced by mild anaphyl…

2009

A sudden death likely due to mild anaphylactic reaction in a young man is described. Autoptic, histologic, immunohistochemical, and laboratory findings were strongly consistent with the diagnosis of a mild anaphylactic reaction. Genetic molecular analysis, performed on formalin-fixed, paraffin-embedded tissues, showed a mutation described as W822X in a family with electrocardiographic pattern typical of Brugada Syndrome. It results in a nonsense mutation generating a truncated form of the channel protein. The mutation is due to a point substitution of a guanine with an adenine residue (G2466A). Immunohistochemistry and laser scanning confocal microscopy on sections from heart formalin-fixed…

MaleChannellopathies; Confocal laser scanning microscopy; Immunohistochemistry; Na+ CP type Vα (C-20); Sodium channel; Sudden cardiac death; W822X; Adult; Anaphylaxis; Brugada Syndrome; Fatal Outcome; Humans; Male; Muscle Proteins; Myocardium; Myocytes Cardiac; NAV1.5 Voltage-Gated Sodium Channel; Peanut Hypersensitivity; Sodium Channels; Death Sudden Cardiac; Mutation Missense; 2734; Medical Laboratory Technology; HistologyMuscle Proteinsmedicine.disease_causeSodium ChannelsSudden cardiac deathNAV1.5 Voltage-Gated Sodium ChannelNa+ CP type V[alpha] (C-20)Fatal OutcomeMissense mutationMyocytes CardiacConfocal laser scanning microscopyCP type Vα (C-20)Cellular localizationBrugada syndromeBrugada SyndromeMutationChemistrySodium channelChannellopathiesImmunohistochemistryChannellopathies; Confocal laser scanning microscopy; Immunohistochemistry; Na; +; CP type Vα (C-20); Sodium channel; Sudden cardiac death; W822XDeathMedical Laboratory TechnologyCardiologyCardiacAdultmedicine.medical_specialtyHistologyNa+ CP type V[alpha] (C-20) confocal laser scanning microscopy immunohistochemistry sodium channel channellopathies W822X sudden cardiac deathNonsense mutation2734Mutation MissenseSocio-culturaleNa+ CP type Vα (C-20)+Sudden deathPathology and Forensic MedicineInternal medicinemedicineHumansPeanut HypersensitivityNacardiovascular diseasesW822XAnaphylaxisMyocytesSodium channelMyocardiummedicine.diseaseMolecular biologySuddenSudden cardiac deathDeath Sudden CardiacMutationMissenseNa+ CP type V[alpha] (C-20); confocal laser scanning microscopy; immunohistochemistry; sodium channel; channellopathies; W822X; sudden cardiac death
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Downregulation and Nuclear Relocation of MLP During the Progression of Right Ventricular Hypertrophy Induced by Chronic Pressure Overload

2000

Abstract The cardiac LIM domain protein MLP plays a crucial role in the architecture and mechanical function of cardiac myocytes. Mice lacking the MLP gene develop cardiac hypertrophy, dilated cardiopathy and heart failure. We investigated whether downregulation of MLP is induced by pressure overload and contributes to the physiopathology of cardiac hypertrophy and failure. We studied this mechanism in rat right ventricles submitted to pulmonary arterial hypertension, because it is known that this ventricle is very vulnerable to the deleterious effects of pressure overload. During the progression of cardiac hypertrophy to failure over a 31 days period there was a dramatic decrease by 50% of…

MaleCytoplasmmedicine.medical_specialtyTime FactorsTranscription GeneticHeart VentriclesDown-RegulationMuscle ProteinsCardiomegalyCytosolMyofibrilsDownregulation and upregulationRight ventricular hypertrophyInternal medicinePressureAnimalsVentricular FunctionMedicineMyocyteRNA MessengerRats WistarLungMolecular BiologyCell NucleusHomeodomain ProteinsPressure overloadReverse Transcriptase Polymerase Chain Reactionbusiness.industryMyocardiumLIM Domain Proteinsmedicine.diseaseImmunohistochemistryPulmonary hypertensionRatsMicroscopy Electronmedicine.anatomical_structureVentricleHeart failureCardiologyCardiology and Cardiovascular MedicinebusinessMyofibrilJournal of Molecular and Cellular Cardiology
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Absence of dysferlin alters myogenin expression and delays human muscle differentiation 'in vitro'

2006

Mutations in dysferlin cause a type of muscular dystrophy known as dysferlinopathy. Dysferlin may be involved in muscle repair and differentiation. We compared normal human skeletal muscle cultures expressing dysferlin with muscle cultures from dysferlinopathy patients. We quantified the fusion index of myoblasts as a measure of muscle development and conducted optic and electronic microscopy, immunofluorescence, Western blot, flow cytometry, and real-time PCR at different developmental stages. Short interference RNA was used to corroborate the results obtained in dysferlin-deficient cultures. A luciferase reporter assay was performed to study myogenin activity in dysferlin-deficient cultur…

MaleDysferlinopathyMuscle ProteinsIn Vitro TechniquesBiochemistryMuscular DystrophiesDysferlinmedicineMyocyteHumansMuscular dystrophyMuscle SkeletalMolecular BiologyDysferlinMyogeninCells CulturedbiologyMyogenesisMusclesSkeletal muscleMembrane ProteinsCell DifferentiationCell Biologymedicine.diseaseMolecular biologyCD56 Antigenmedicine.anatomical_structureGene Expression RegulationCase-Control Studiesbiology.proteinFemaleMyogeninMyofibrilSignal Transduction
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Alteration of hypothalamic glucose and lactate sensing in 48h hyperglycemic rats.

2013

International audience; Hypothalamic detection of nutrients is involved in the control of energy metabolism and is altered in metabolic disorders. Although hypothalamic detection of blood lactate lowers hepatic glucose production and food intake, it is unknown whether it also modulates insulin secretion. To address this, a lactate injection via the right carotid artery (cephalad) was performed in Wistar rats. This triggered a transient increase in insulin secretion. Rats made hyperglycemic for 48h exhibited prolonged insulin secretion in response to a glucose injection via the carotid artery, but lactate injection induced two types of responses: half of the HG rats showed no difference comp…

MaleMonocarboxylic Acid TransportersGene isoformmedicine.medical_specialtyTime Factors[ SDV.AEN ] Life Sciences [q-bio]/Food and NutritionHypothalamusMuscle ProteinsBiologyCarbohydrate metabolismInternal medicineInsulin SecretionBlood lactatemedicineExtracellularAnimalsInsulinLactic AcidRats WistarInsulin secretionSymportersGeneral NeuroscienceGlucose InjectionTransporterRatsGlucoseEndocrinologyHypothalamusHyperglycemia[SDV.AEN]Life Sciences [q-bio]/Food and Nutrition
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Comparison of blood lactate and perceived exertion responses in two matched time-under-tension protocols.

2019

PurposeThe aim of this study was to compare the concentration of blood lactate [bLa-] and the subjective perception of exertion of trained men in a moderate repetition protocol (MRP) versus a high repetition protocol (HRP) equated for time under tension.MethodsA sample of 40 healthy young men (aged, 23.2 ± 4.0 years; height, 177.3 ± 7.0 cm; BMI, 24.3 ± 2.2) performed two sessions of 8 sets of bicep curls with a one-week recovery interval between the trials. In the HRP protocol, 20 repetitions were performed with a cadence of 2 seconds of eccentric and 1 second of concentric, while in the MRP protocol 10 repetitions were performed with 4 seconds of eccentric and 2 seconds of concentric. Cade…

MaleMuscle PhysiologyPhysiologyMuscle ProteinsConcentricBiochemistrylaw.invention0302 clinical medicinelawMedicine and Health SciencesElbowMetabolitesBlood lactateMedicineEccentricPublic and Occupational HealthMusculoskeletal SystemRating of perceived exertionMultidisciplinaryQRSoftware EngineeringMuscle BiochemistryMultidrug Resistance-Associated Protein 2Sports ScienceBody FluidsArmsBloodAnesthesiaStrength TrainingEngineering and TechnologyMedicineAnatomyCadenceResearch ArticleComputer and Information SciencesStrength trainingSciencePhysical ExertionMetronomeBiosynthesisYoung Adult03 medical and health sciencesHumansLactic AcidExertionSports and Exercise MedicineMuscle SkeletalExerciseSoftware Toolsbusiness.industryBiology and Life SciencesProteinsResistance TrainingPhysical Activity030229 sport sciencesMetabolismAthletesPhysical FitnessBody LimbsPerceptionbusiness030217 neurology & neurosurgeryPLoS ONE
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Heterozygous nonsense SCN5A mutation W822X explains a simultaneous sudden infant death syndrome.

2008

The sudden, unexpected, and unexplained death of both members of a set of healthy twins (simultaneous sudden infant death syndrome (SSIDS)) is defined as a case in which both infants meet the definition of sudden infant death syndrome individually. A search of the world medical literature resulted in only 42 reported cases of SSIDS. We report the case of a pair of identical, male, monozygotic twins, 138 days old, who suddenly died, meeting the full criteria of SSIDS and where a genetic screen was performed, resulting in a heterozygous nonsense SCN5A mutation (W822X) in both twins. Immunohistochemistry was performed on cardiac tissue samples utilizing polyclonal antibodies anti-Na+ CP type V…

MalePathologymedicine.medical_specialtyNav1.5 protein functionv1.5 protein functionmedia_common.quotation_subject2734Nonsense mutationNonsenseNa+ channel functionMuscle ProteinsSocio-culturaleBiology+Nav1.5 protein function; Na+ channel function; SCN5A gene mutation; Simultaneous sudden infant death syndrome; W822X mutation; Codon Nonsense; Diseases in Twins; Humans; Infant; Male; Muscle Proteins; NAV1.5 Voltage-Gated Sodium Channel; Sodium Channels; Sudden Infant Death; 2734Sudden deathSodium ChannelsNAV1.5 Voltage-Gated Sodium ChannelPathology and Forensic MedicinePathogenesisSCN5A gene mutationDiseases in TwinsmedicineHumansSimultaneous sudden infant death syndromeSCN5A gene mutationW822X mutationNa+ channel functionNav1.5 protein functionNaSimultaneous sudden infant death syndrome SCN5A gene mutation W822X mutation Na+ channel function Nav1.5 protein function CodonMolecular BiologyCellular localizationmedia_commonSimultaneous sudden infant death syndromeSettore BIO/16 - Anatomia UmanaSimultaneous sudden infant death syndrome SCN5A gene mutation W822X mutation Na+ channel function Nav1.5 protein functionW822X mutationInfantCell BiologyGeneral MedicineSudden infant death syndromeNonsenseTerminal deoxynucleotidyl transferaseCodon NonsenseImmunohistochemistryNa; v; 1.5 protein function; Na; +; channel function; SCN5A gene mutation; Simultaneous sudden infant death syndrome; W822X mutationchannel functionSudden Infant Death
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Reduction of mdx mouse muscle degeneration by low-intensity endurance exercise: a proteomic analysis in quadriceps muscle of exercised versus sedenta…

2015

By proteomic analysis we found an up-regulation of four carbonic anhydrase-3 (CA3) isoforms and a down-regulation of superoxide dismutase [Cu-Zn] (SODC) in quadriceps of sedentary X-linked muscular dystrophy (mdx) mice as compared with wild–type (WT) mice and the levels were significantly restored to WT values following low-intensity endurance exercise.

MaleProteomicsmuscular dystrophymdx mousemedicine.medical_specialtycarbonic anhydrase exercise mdx muscle oxidative stress muscle proteomic muscular dystrophyBlotting Westerncarbonic anhydraseBiophysicsMuscle Proteinsmedicine.disease_causeBiochemistryQuadriceps Musclemuscle proteomicSuperoxide dismutaseWestern blotEndurance trainingInternal medicinemedicineAnimalsoxidative stressElectrophoresis Gel Two-DimensionalMuscular dystrophyMolecular BiologyOriginal Paperexercisebiologymedicine.diagnostic_testSuperoxide Dismutasebusiness.industryReproducibility of ResultsSkeletal muscleCell Biologymedicine.diseaseOriginal PapersCarbonic Anhydrase IIIMice Inbred C57BLMuscular Dystrophy Duchennemedicine.anatomical_structureEndocrinologyX-linked muscular dystrophy (mdx)carbonic anhydrase; oxidative stress; muscle proteomicMice Inbred mdxPhysical Endurancebiology.proteinCarbonic anhydrase 3businessmuscle oxidative stressOxidative stress
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When tubules aggregate

2011

Within muscle fibres, tubules appear as microtubules, transverse tubules, and different components of the sarcotubular system, the latter consisting of longitudinal tubules and lateral or terminal sacs which, at special junctional connections, are situated on both sides of transverse tubules forming triads. Pathological structures related to the transverse tubules are honeycomb structures, both the transverse tubules and the honeycomb ones being labelled by extracellularly applied lanthanum [1] or potassium ferrocyanide [2], thus, indicating an open connection between the interior of the muscle fibres and the extracellular space. Dyads or multiple incomplete or complete forms of triads, pen…

MaleRyanodine receptorChemistryEndoplasmic reticulumSarcoplasmMuscle ProteinsAnatomyCalsequestrinCalcium ATPaseSarcoplasmic ReticulumNeurologyTriadinMicrotubulePediatrics Perinatology and Child HealthBiophysicsAnimalsHumansSarcalumeninNeurology (clinical)Muscle SkeletalGenetics (clinical)Neuromuscular Disorders
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Immunoproteasome LMP2 60HH Variant Alters MBP Epitope Generation and Reduces the Risk to Develop Multiple Sclerosis in Italian Female Population

2010

BackgroundAlbeit several studies pointed out the pivotal role that CD4+T cells have in Multiple Sclerosis, the CD8+ T cells involvement in the pathology is still in its early phases of investigation. Proteasome degradation is the key step in the production of MHC class I-restricted epitopes and therefore its activity could be an important element in the activation and regulation of autoreactive CD8+ T cells in Multiple Sclerosis.Methodology/principal findingsImmunoproteasomes and PA28-alphabeta regulator are present in MS affected brain area and accumulated in plaques. They are expressed in cell types supposed to be involved in MS development such as neurons, endothelial cells, oligodendroc…

MaleT cells proteasomes multiple sclerosis parietal lobeMuscle ProteinsImmunoproteasomeEpitopeEpitopesGene FrequencyRisk FactorsCytotoxic T cellFunding: This work was financed in part by the grant Giovani Ricercatori 2007 from Italian Ministry of Health to MM DG and FMB by a grant from the European Commission Integrated Project PROTEOMAGE (FP6) to CF by the finalized projects of Fondazione Italiana Sclerosi Multipla (FISM) cod. 2003/R26 and BioPharmaNet to CF and 2002/R/40 and 2005/R/10 2008/R/11 (Genoa) to SD'A by the University of Bologna (FRO) to MPF by the Regione Piemonte (Ricerca Sanitaria Finalizzata Project and Ricerca Sanitaria Applicata-CIPE Project) to SD'A by Associazione Amici del Centro Dino Ferrari and IRCCS Ospedale Maggiore Policlinico Milano to DG and by the grants Sonderforschungsbereich (SFB-507 SFB-421) to PMK and US the grants TR43 and Neurocure to PMK. MM benefited from the A.V. Humboldt PostDoc fellowship. The funders had no role in study design data collection and analysis decision to publish or preparation of the manuscript.MultidisciplinaryMicrogliaQRBrainMiddle AgedImmunohistochemistryCysteine EndopeptidasesOligodendrogliamedicine.anatomical_structureItalyImmunoproteasome; multiple sclerosis; italian populationmultiple sclerosiImmunology/Antigen Processing and RecognitionMedicineFemaleMicrogliaNeuroscience/Neurobiology of Disease and RegenerationResearch ArticleProtein BindingAdultProteasome Endopeptidase ComplexMultiple SclerosisGenotypeScienceMolecular Sequence DataImmunology/AutoimmunityBiologySex FactorsMHC class IHLA-A2 AntigenmedicineHumansAmino Acid SequenceAlleleHLA-A AntigensMultiple sclerosisMacrophagesMyelin Basic Proteinmedicine.diseaseMyelin basic proteinImmunologybiology.proteinitalian populationCD8PLoS ONE
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Morphological, molecular and hormonal adaptations to early morning versus afternoon resistance training

2018

It has been clearly established that maximal force and power is lower in the morning compared to noon or afternoon hours. This morning neuromuscular deficit can be diminished by regularly training in the morning hours. However, there is limited and contradictory information upon hypertrophic adaptations to time-of-day-specific resistance training. Moreover, no cellular or molecular mechanisms related to muscle hypertrophy adaptation have been studied with this respect. Therefore, the present study examined effects of the time-of-day-specific resistance training on muscle hypertrophy, phosphorylation of selected proteins, hormonal concentrations and neuromuscular performance. Twenty five pre…

MaleTime FactorsHydrocortisonePhysiologyMuscle ProteinsPhysiologylihaksetNoonp38 Mitogen-Activated Protein KinasesQuadriceps MuscleMuscle hypertrophy0302 clinical medicinePeptide Elongation Factor 2harjoitteluTestosteronePhosphorylationExtracellular Signal-Regulated MAP Kinasesta315vuorokausirytmiMorningRibosomal Protein S6resistanssiRibosomal Protein S6 Kinases 70-kDafood and beveragescell signallingAdaptation PhysiologicalMagnetic Resonance ImagingCircadian Rhythmmedicine.anatomical_structurevoimaharjoitteluhypertrophyAdultYoung Adult03 medical and health sciencesIsometric ContractionPhysiology (medical)medicineHumansMuscle Strengthdiurnalskeletal musclebusiness.industryfungiResistance trainingSkeletal muscle030229 sport sciencesresistance trainingbusinessBiomarkers030217 neurology & neurosurgeryHormoneChronobiology International
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