0000000000374876

AUTHOR

Giovanni Meola

showing 3 related works from this author

rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences

2018

Myotonic dystrophy type 1 and type 2 (DM1, DM2) are caused by expansions of CTG and CCTG repeats, respectively. RNAs containing expanded CUG or CCUG repeats interfere with the metabolism of other RNAs through titration of the Muscleblind-like (MBNL) RNA binding proteins. DM2 follows a more favorable clinical course than DM1, suggesting that specific modifiers may modulate DM severity. Here, we report that the rbFOX1 RNA binding protein binds to expanded CCUG RNA repeats, but not to expanded CUG RNA repeats. Interestingly, rbFOX1 competes with MBNL1 for binding to CCUG expanded repeats and overexpression of rbFOX1 partly releases MBNL1 from sequestration within CCUG RNA foci in DM2 muscle ce…

0301 basic medicineModels MolecularProtein Conformation alpha-Helical[SDV]Life Sciences [q-bio]General Physics and AstronomyGene ExpressionRNA-binding proteinCrystallography X-Raychemistry.chemical_compoundMOLECULAR-BASISGene expressionMBNL1Myotonic DystrophyComputingMilieux_MISCELLANEOUSMultidisciplinaryCHLORIDE CHANNELQRNA-Binding ProteinsRecombinant Proteins3. Good healthCell biologyCONGENITAL HEART-DISEASEDrosophila melanogasterThermodynamicsSKELETAL-MUSCLERNA Splicing FactorsCUG REPEATSProtein BindingRNA Splicing Factorsmusculoskeletal diseasesSTEADY-STATEcongenital hereditary and neonatal diseases and abnormalitiesScienceRBFOX1BiologyMyotonic dystrophyBinding CompetitiveGeneral Biochemistry Genetics and Molecular BiologyArticle03 medical and health sciencesmedicineEscherichia coliAnimalsHumansProtein Interaction Domains and MotifsBinding siteNucleotide MotifsMuscle SkeletalSPLICING REGULATOR RBFOX2MUSCLEBLIND PROTEINSBinding SitesPRE-MESSENGER-RNARNAGeneral Chemistrymedicine.diseaseDisease Models AnimalKinetics030104 developmental biologychemistryTRIPLET REPEATRNAProtein Conformation beta-Strand3111 Biomedicine
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"I Know that You Know that I Know": Neural Substrates Associated with Social Cognition Deficits in DM1 Patients.

2016

Myotonic dystrophy type-1 (DM1) is a genetic multi-systemic disorder involving several organs including the brain. Despite the heterogeneity of this condition, some patients with non-congenital DM1 can present with minimal cognitive impairment on formal testing but with severe difficulties in daily-living activities including social interactions. One explanation for this paradoxical mismatch can be found in patients' dysfunctional social cognition, which can be assessed in the framework of the Theory of Mind (ToM). We hypothesize here that specific disease driven abnormalities in DM1 brains may result in ToM impairments. We recruited 20 DM1 patients who underwent the "Reading the Mind in th…

MaleSocial CognitionMagnetic Resonance SpectroscopyTheory of MindAdult; Brain; Cognition; Female; Humans; Magnetic Resonance Spectroscopy; Male; Middle Aged; Myotonic Dystrophy; Neuropsychological Tests; Social Behavior; Theory of MindSocial Scienceslcsh:MedicineDiseaseNeuropsychological TestsDiagnostic RadiologyCognition0302 clinical medicineFunctional Magnetic Resonance ImagingTheory of mindMedicine and Health SciencesPsychologyMyotonic Dystrophylcsh:ScienceCognitive ImpairmentBrain MappingMultidisciplinarymedicine.diagnostic_testCognitive NeurologyRadiology and Imagingagricultural and biological sciences (all); biochemistry genetics and molecular biology (all); medicine (all)05 social sciencesRBrainCognitionMiddle AgedMagnetic Resonance ImagingNeurologyRC0346Genetic DiseasesPhysical SciencesFemaleSettore MED/26 - NeurologiaPsychologyResearch ArticleClinical psychologyAdultmusculoskeletal diseasesComputer and Information Sciencesmedicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitiesSocial PsychologyImaging TechniquesCognitive NeuroscienceNeuroimagingDysfunctional familyResearch and Analysis MethodsMyotonic dystrophy050105 experimental psychology03 medical and health sciencesDiagnostic MedicineSocial cognitionTheory of mind cerebral lesionGeneticsmedicineHumans0501 psychology and cognitive sciencesSocial BehaviorPsychiatryClinical GeneticsSettore M-PSI/02 - Psicobiologia E Psicologia Fisiologicalcsh:RCognitive PsychologyBiology and Life SciencesHuman Geneticsmedicine.diseaseComprehensionGraph TheoryRC0321Cognitive Sciencelcsh:QFunctional magnetic resonance imagingMathematics030217 neurology & neurosurgeryNeurosciencePLoS ONE
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Second asymptomatic carotid surgery trial (ACST-2): a randomised comparison of carotid artery stenting versus carotid endarterectomy.

2021

Summary Background Among asymptomatic patients with severe carotid artery stenosis but no recent stroke or transient cerebral ischaemia, either carotid artery stenting (CAS) or carotid endarterectomy (CEA) can restore patency and reduce long-term stroke risks. However, from recent national registry data, each option causes about 1% procedural risk of disabling stroke or death. Comparison of their long-term protective effects requires large-scale randomised evidence. Methods ACST-2 is an international multicentre randomised trial of CAS versus CEA among asymptomatic patients with severe stenosis thought to require intervention, interpreted with all other relevant trials. Patients were eligib…

Malemedicine.medical_specialtyTime FactorsTime Factormedicine.medical_treatmentCarotid StenosiMEDLINECarotid endarterectomyRate ratioRisk AssessmentAsymptomaticlaw.inventionRandomized controlled triallawRisk Factorscarotid artery stenting (CAS); carotid endarterectomy (CEA)StentmedicineHumansCarotid StenosisStrokeEndarterectomyAgedEndarterectomy Carotidbusiness.industrycarotid arteryRisk FactorArticlesGeneral Medicinetrialmedicine.diseaseSettore MED/22 - CHIRURGIA VASCOLARESurgeryStrokeStenosisTreatment Outcomecarotid artery stenting (CAS)Settore MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLAREFemaleStentsHuman medicinemedicine.symptomcarotid endarterectomy (CEA)businessHumanLancet (London, England)
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