0000000000241515

AUTHOR

F. Brucato

showing 6 related works from this author

Mutation in candidate genes account for a small minority of hypobetalipoproteinemias and NGS analysis support polygenicity in mutation-negative patie…

2020

GeneticsPOLYGENICCandidate geneMutation (genetic algorithm)BiologyCardiology and Cardiovascular MedicineHYPOBETALIPOPROTEINEMIASNGS ANALYSISAtherosclerosis
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Identification Of P.Leu167Del Apoe Gene Mutation By Next Generation Sequencing In A Large Hypercholesterolemic Family

2019

Apolipoprotein EGeneticsSettore MED/09 - Medicina InternaNEXT GENERATION SEQUENCING HYPERCHOLESTEROLEMIAMutation (genetic algorithm)APOE GENEIdentification (biology)BiologyCardiology and Cardiovascular MedicineMUTATIONDNA sequencingAtherosclerosis
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MOLECULAR CHARACTERIZATION OF PATIENTS WITH AND WITHOUT CORONARY ARTERY DISEASE WITH "EXTREME LDL-C PHENOTYPES"

2020

Coronary artery diseasemedicine.medical_specialtygenotypingbusiness.industryInternal medicineCardiologyMedicineCardiology and Cardiovascular Medicinebusinessmedicine.diseasePhenotypeCoronary artery diseaseLDL
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PCSK9-D374Y mediated LDL-R degradation can be functionally inhibited by EGF-A and truncated EGF-A peptides: An in vitro study.

2019

Abstract Background and aims Proprotein convertase subtilisin/kexin type 9 (PCSK9) binds to low density lipoprotein receptor (LDLR) through the LDLR epidermal growth factor-like repeat A (EGF-A) domain and induces receptor internalization and degradation. PCSK9 has emerged as a novel therapeutic target for hypercholesterolemia. Clinical studies with PCSK9 inhibiting antibodies have demonstrated strong LDL-c lowering effects, but other therapeutic approaches using small molecule inhibitors for targeting PCSK9 functions may offer supplementary therapeutic options. The aim of our study was to evaluate the effect of synthetic EGF-A analogs on mutated (D374Y) PCSK9-D374Y mediated LDLR degradatio…

0301 basic medicineSmall peptidesmedia_common.quotation_subject030204 cardiovascular system & hematologyDecoy strategyPCSK903 medical and health sciences0302 clinical medicineHumansInternalizationCells Culturedmedia_commonExpression vectorEpidermal Growth FactorChemistryPCSK9PCSK9 InhibitorsTransfectionProprotein convertasePCSK9 inhibitionIn vitroCell biologyEGF-A domain030104 developmental biologyLDLRReceptors LDLLDL receptorMutationKexinlipids (amino acids peptides and proteins)Proprotein Convertase 9Cardiology and Cardiovascular MedicineAtherosclerosis
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Prevalence Of Statin Intolerance In A Cohort Of Outpatients In A Lipid Clinic

2019

medicine.medical_specialtyStatinbusiness.industrymedicine.drug_classInternal medicineCohortlipid clinicMedicineCardiology and Cardiovascular MedicinebusinessLipid clinicstatin intoleranceAtherosclerosis
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rs629301 CELSR2 polymorphism confers a ten-year equivalent risk of critical stenosis assessed by coronary angiography

2021

Abstract Background and aims Novel genetic determinants associated with coronary artery disease (CAD) have been discovered by genome wide association studies. Variants encompassing the CELSR2- PSRC1-SORT1 gene cluster have been associated with CAD. This study is aimed to investigate the rs629301 polymorphism association with the extent of CAD evaluated by coronary angiography (CAG), and to evaluate its associations with an extensive panel of lipid and lipoprotein measurements in a large Italian cohort of 2429 patients. Methods and results The patients were collected by four Intensive Care Units located in Palermo and Verona (Italy). Clinical Records were filed, blood samples were collected,…

MaleApolipoprotein ETime FactorsApolipoprotein BCoronary StenosiEndocrinology Diabetes and MetabolismMedicine (miscellaneous)Genome-wide association study030204 cardiovascular system & hematologyCoronary AngiographyCoronary artery diseaseSeverity of Illness IndexGastroenterologyCoronary artery disease0302 clinical medicineRisk FactorsGenotypeAge FactorNutrition and DieteticsbiologyGene polymorphismAge FactorsSingle NucleotideLipidMiddle AgedCadherinsPrognosisLipidsApolipoproteinPhenotypeItalyFemalelipids (amino acids peptides and proteins)Cardiology and Cardiovascular Medicinemedicine.medical_specialty030209 endocrinology & metabolismRisk AssessmentPolymorphism Single Nucleotide03 medical and health sciencesPredictive Value of TestsIntensive careInternal medicinemedicineHumansGenetic Predisposition to DiseasePolymorphismGenetic Association StudiesAgedbusiness.industryCoronary StenosisBiomarkerOdds ratiomedicine.diseaseSortilinApolipoproteinsbiology.proteinGene polymorphismbusinessBiomarkersNutrition, Metabolism and Cardiovascular Diseases
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