Davide Noto
A5000781891- Lipoproteins and Cardiovascular Health
- Lipid metabolism and disorders
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Cancer, Lipids, and Metabolism
- Liver Disease Diagnosis and Treatment
- Metabolism, Diabetes, and Cancer
- Cholesterol and Lipid Metabolism
- Atherosclerosis and Cardiovascular Diseases
- Diet, Metabolism, and Disease
- Adipokines, Inflammation, and Metabolic Diseases
- Peroxisome Proliferator-Activated Receptors
- Cardiovascular Function and Risk Factors
- Nutritional Studies and Diet
- Lipid metabolism and biosynthesis
- Caveolin-1 and cellular processes
- Pancreatitis Pathology and Treatment
- Diet and metabolism studies
- Computational Drug Discovery Methods
- Cancer, Hypoxia, and Metabolism
- Celiac Disease Research and Management
- Genetic Associations and Epidemiology
- Blood Pressure and Hypertension Studies
- Cardiac Imaging and Diagnostics
- Genetic factors in colorectal cancer
- Cardiovascular Disease and Adiposity
University of Palermo
2016-2025
Azienda Ospedaliera Universitaria Policlinico "Paolo Giaccone" di Palermo
2003-2025
Azienda di Rilievo Nazionale ed Alta Specializzazione
2023
University of Padua
2017
Imperial College London
2015
Center for Human Genetics
2012-2013
Massachusetts General Hospital
2012-2013
University of Modena and Reggio Emilia
2006-2013
Harvard University
2013
Broad Institute
2013
The PCSK9 gene, encoding a pro-protein convertase involved in posttranslational degradation of low-density lipoprotein receptor, has emerged as key regulator plasma cholesterol. In African-Americans two nonsense mutations resulting loss function are associated with 30% to 40% reduction aim this study was assess whether were cause familial hypobetalipoproteinemia and determinant low-plasma cholesterol whites.We sequenced gene 18 subjects 102 hypocholesterolemic blood donors who negative for...
Angiopoietin-like 3 (ANGPTL3) regulates lipoprotein metabolism by modulating extracellular lipases. Loss-of function mutations in ANGPTL3 gene cause familial combined hypolipidemia (FHBL2). The mode of inheritance and hepatic vascular consequences FHBL2 have not been fully elucidated. To get further insights on these aspects, we reevaluated the clinical biochemical characteristics all reported cases FHBL2. One hundred fifteen individuals carrying 13 different (14 homozygotes, 8 compound...
Objective— Mutations of the ANGPTL3 gene have been associated with a novel form primary hypobetalipoproteinemia, combined hypolipidemia (cHLP), characterized by low total cholesterol and HDL-cholesterol levels. The aim this work is to define role as determinant phenotype in 2 large cohorts 913 among American Italian subjects hypobetalipoproteinemia (total <5th percentile). Methods Results— cut-offs were chosen according levels reported kindred described date: levels, <2nd percentile...
In familial hypobetalipoproteinemia, fatty liver is a characteristic feature, and there are several reports of associated cirrhosis hepatocarcinoma. We investigated large kindred in which low-density lipoprotein cholesterol, liver, hepatocarcinoma displayed an autosomal dominant pattern inheritance.The proband was 25-year-old female with low plasma cholesterol hepatic steatosis. Low levels total were observed 10 more family members; 1 member affected by cirrhosis, 4 subjects died either or...
Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by elevated plasma levels of LDL-cholesterol that confers increased risk premature atherosclerotic cardiovascular disease. Early identification and treatment FH patients can improve prognosis reduce the burden mortality. Aim this study was to perform mutational analysis identified through a collaboration 20 Lipid Clinics in Italy (LIPIGEN Study). We recruited 1592 individuals with clinical diagnosis definite or...
Primary dyslipidemias are a heterogeneous group of disorders characterized by abnormal levels circulating lipoproteins. Among them, familial hypercholesterolemia is the most common lipid disorder that predisposes for premature cardiovascular disease. We set up an Italian nationwide network aimed at facilitating clinical and genetic diagnosis named LIPIGEN (LIpid TransPort Disorders GEnetic Network). Observational, multicenter, retrospective prospective study involving about 40 centers....
Statins are a class of drugs widely prescribed as frontline therapy for lowering plasma LDL-cholesterol in cardiovascular risk prevention. Several clinical reports have recently suggested an increased type 2 diabetes associated with chronic use these drugs. The pathophysiology this effect remains to be fully elucidated but impaired β-cell function constitutes potential mechanism. aim study was explore the treatment lipophilic and hydrophilic statins on function, using human pancreatic islets...
Abstract Aims The availability of novel lipid-lowering therapies (LLTs) has remarkably changed the clinical management homozygous familial hypercholesterolaemia (HoFH). impact these advances was evaluated in a cohort 139 HoFH patients followed real-world setting. Methods and results characteristics patients, along with information about LLTs low-density lipoprotein cholesterol (LDL-C) levels at baseline after median follow-up 5 years, were retrospectively retrieved from records enrolled...
We hypothesized that the minor allele of atrial natriuretic peptide (ANP) genetic variant rs5068 is associated with a favorable cardiometabolic phenotype in general Mediterranean population.We genotyped random sample residents Ventimiglia di Sicilia, Sicily, for rs5068.Genotype frequencies are AA, 93.5%; AG, 6.4%; and GG, 0.1%. All subsequent analyses AA versus AG+GG. After adjusting age sex, G lower BMI (estimate [SE]: -1.7 kg/m(2) [0.8], P = 0.04). In AG+GG group, males HDL cholesterol...
Background— Exome sequencing is a promising tool for gene mapping in Mendelian disorders. We used this technique an attempt to identify novel genes underlying monogenic dyslipidemias. Methods and Results— performed exome on 213 selected family members from 41 kindreds with suspected inheritance of extreme levels low-density lipoprotein cholesterol (after candidate excluded known genetic causes high families) or high-density cholesterol. standard analytic approaches variants also assigned...
Context: Lipase maturation factor 1 (LMF1) gene is a novel candidate in severe hypertriglyceridemia. Lmf1 involved the of lipoprotein lipase (LPL) and hepatic endoplasmic reticulum. To date only one patient with hypertriglyceridemia related disorders was found to be homozygous for nonsense mutation LMF1 (Y439X). Objective: The objective study investigate hypertriglyceridemic patients whom mutations LPL, APOC2, APOA5 genes had been excluded. Results: resequencing led discovery recurrent...